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
FAT3	120114	broad.mit.edu	37	11	92257900	92257900	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92257900C>T	ENST00000298047.6	+	2	3410	c.3393C>T	c.(3391-3393)acC>acT	p.T1131T	FAT3_ENST00000409404.2_Silent_p.T1131T|FAT3_ENST00000541502.1_Silent_p.T1131T|FAT3_ENST00000525166.1_Silent_p.T981T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1131	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACTCCACCATTGAGGTCT	0.483000										TCGA Ovarian(4;0.039)			18	229					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23966723G>A	ENST00000335694.4	-	3	498	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_ENST00000286890.4_Silent_p.F98F|GGTLC1_ENST00000278765.4_Silent_p.F98F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000													7	101					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90124979	90124979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:90124979G>A	ENST00000405460.2	+	77	16683	c.16587G>A	c.(16585-16587)atG>atA	p.M5529I	GPR98_ENST00000425867.2_Missense_Mutation_p.M1190I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5529					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGGACTAATGATGTCTGTTA	0.423000													12	52					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466429	88466429	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88466429C>T	ENST00000361373.4	+	7	1059	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	346						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCATCGCCTCCGCCTCCA	0.692000													6	38					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24798270	24798270	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24798270G>A	ENST00000310677.4	-	11	1634	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	ADCY4_ENST00000396747.3_Silent_p.L200L|ADCY4_ENST00000554068.2_Silent_p.L507L|ADCY4_ENST00000418030.2_Silent_p.L507L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	507					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CACATACCGGGAGAGGGGTGG	0.622000													6	86					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742769	10742769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10742769C>T	ENST00000586078.1	+	10	869	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SLC44A2_ENST00000335757.5_Missense_Mutation_p.R254C|SLC44A2_ENST00000407327.4_Missense_Mutation_p.R252C	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	254					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATCCTGCTTCGCTTCCTGGC	0.547000													45	204					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241992590	241992590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241992590G>A	ENST00000310397.8	+	16	2104	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000405547.3_Missense_Mutation_p.E702K|SNED1_ENST00000342631.6_Missense_Mutation_p.E702K|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.E702K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	702	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGCCCCCCGGAGGAGGTGAA	0.716000													5	25					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338017	39338017	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39338017G>A	ENST00000221419.5	-	2	691	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	109	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCGTCAATCAGGCCCCTGATG	0.522000													4	67					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831424	131831424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131831424G>A	ENST00000359827.3	-	28	5862	c.4900C>T	c.(4900-4902)Ctc>Ttc	p.L1634F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1634F			Q9HCM2	PLXA4_HUMAN	plexin A4	1634						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGTGAGCGGAGGCTGTCGGGG	0.577000													32	136					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905099	234905099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234905099G>A	ENST00000324695.4	+	22	3109	c.3069G>A	c.(3067-3069)atG>atA	p.M1023I	TRPM8_ENST00000433712.2_Missense_Mutation_p.M601I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1023						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTTCTACATGGTGGTGAAGA	0.493000													14	83					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261064	1261064	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1261064T>C	ENST00000447027.1	+	28	3686	c.3628T>C	c.(3628-3630)Ttc>Ctc	p.F1210L	MUC5B_ENST00000529681.1_Missense_Mutation_p.F1207L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1207	Cys-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)		CCAGCCCTTCTTCAATGAGGA	0.612000													3	17					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001465	49001465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49001465C>T	ENST00000600059.1	-	11	3088	c.2861G>A	c.(2860-2862)aGa>aAa	p.R954K	LMTK3_ENST00000270238.3_Missense_Mutation_p.R983K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TTTCTCTTCTCTCTCGGGGGA	0.647000													8	87					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96789835	96789835	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96789835G>A	ENST00000342380.2	-	9	1049	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	350					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTTTTTCAGGGCAGGGGACT	0.672000													15	123					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73927255	73927255	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73927255C>T	ENST00000476977.1	+	3	1910	c.219C>T	c.(217-219)ttC>ttT	p.F73F	GTF2IRD1_ENST00000265755.3_Silent_p.F73F|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.F73F|GTF2IRD1_ENST00000424337.2_Silent_p.F73F			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	73						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGAATGTTCCTGAATGCCC	0.637000													4	67					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823296	53823296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53823296G>A	ENST00000257863.4	+	8	1107	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	AMHR2_ENST00000379791.3_Missense_Mutation_p.E343K|AMHR2_ENST00000550311.1_Missense_Mutation_p.E343K	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	343	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTCATTCGGGAAGATGGATC	0.562000													4	37					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9615392	9615392	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:9615392C>T	ENST00000570827.2	+	14	2419	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	USP43_ENST00000570475.1_Silent_p.L755L|USP43_ENST00000285199.6_Silent_p.L760L			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	760					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTGCCCCTCCCTGCCCCAGGT	0.557000													3	29					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050539	110050539	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110050539C>T	ENST00000369864.4	-	2	1345	c.996G>A	c.(994-996)caG>caA	p.Q332Q	AMIGO1_ENST00000369862.1_Silent_p.Q332Q			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	332	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CGTCCTCGACCTGCACCTGCT	0.502000													6	101					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42293036	42293036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42293036G>A	ENST00000302904.4	-	5	952	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	UBTF_ENST00000526094.1_Missense_Mutation_p.P154S|UBTF_ENST00000529383.1_Missense_Mutation_p.P154S|UBTF_ENST00000533177.1_Missense_Mutation_p.P154S|UBTF_ENST00000393606.3_Missense_Mutation_p.P154S|UBTF_ENST00000436088.1_Missense_Mutation_p.P154S|UBTF_ENST00000527034.1_Missense_Mutation_p.P154S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000343638.5_Missense_Mutation_p.P154S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	154					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTTCTCCGGAAGCTCCTTG	0.562000													15	92					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58541874	58541874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:58541874G>A	ENST00000394282.4	+	12	1263	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	NDRG4_ENST00000258187.5_Missense_Mutation_p.G266R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G234R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G266R|NDRG4_ENST00000562999.1_Missense_Mutation_p.G234R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G252R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G252R|NDRG4_ENST00000356752.4_Missense_Mutation_p.G264R|NDRG4_ENST00000570248.1_Missense_Mutation_p.G234R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G179R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	234					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCTGGTGGTTGGGGATAATGC	0.667000													5	79					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11333708	11333708	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11333708C>T	ENST00000294618.7	-	25	3041	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DOCK6_ENST00000319867.7_Silent_p.R349R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1010					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGACAAAGCCCCGGTCCACCA	0.622000													5	58					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7240682	7240682	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7240682G>A	ENST00000158762.3	+	2	311	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	35	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGACCCGTCTGGAAAAGGTGA	0.557000													7	68					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614213	36614213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36614213C>T	ENST00000311485.3	-	2	1667	c.1506G>A	c.(1504-1506)atG>atA	p.M502I		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	502					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGGGATTTCATTGGAGGCT	0.408000									Familial Hemophagocytic Lymphohistiocytosis				4	57					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90101239	90101239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:90101239G>A	ENST00000405460.2	+	72	14896	c.14800G>A	c.(14800-14802)Gaa>Aaa	p.E4934K	GPR98_ENST00000425867.2_Missense_Mutation_p.E595K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4934					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAATTCCTGAATTCATTGT	0.458000													8	28					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657239	123657239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123657239C>T	ENST00000422452.2	-	17	3071	c.3008G>A	c.(3007-3009)aGg>aAg	p.R1003K	TENM1_ENST00000371130.3_Missense_Mutation_p.R1003K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AATAGTTCCCCTCTCTGGACA	0.438000													4	17					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295239	19295239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:19295239G>A	ENST00000328405.2	+	2	436	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	57	PAS.					integral to membrane	two-component sensor activity	p.R57Q(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GGATTTGCCCGAACTGAAGTC	0.458000													4	29					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17844133	17844133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17844133C>T	ENST00000324096.4	+	6	3071	c.2920C>T	c.(2920-2922)Ctc>Ttc	p.L974F	MAP1S_ENST00000544059.2_Missense_Mutation_p.L948F|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	974	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGTGCGCGCGCTCTGCTACGT	0.672000													5	18					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496330	52496330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52496330C>T	ENST00000216286.5	-	10	2335	c.2336G>A	c.(2335-2337)gGg>gAg	p.G779E	NID2_ENST00000541773.1_Missense_Mutation_p.G726E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	779	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACACCTGTCCCTGGATGGCA	0.537000													7	44					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124005660	124005660	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124005660C>T	ENST00000456829.2	+	12	1529	c.1278C>T	c.(1276-1278)tcC>tcT	p.S426S	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Silent_p.S426S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	426	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AAGGCACCTCCACCAGCCTAA	0.443000													7	25					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169209337	169209337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169209337C>T	ENST00000393743.3	-	9	1462	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	391							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTACATTTTCATTTTCATAG	0.244000													5	40					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166091	118166091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118166091C>T	ENST00000369448.3	+	2	848	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	201										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TTCCAATAATCCCATCTCTGA	0.478000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			8	118					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													11	31					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626190	102626190	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102626190C>T	ENST00000332549.3	+	3	463	c.234C>T	c.(232-234)gtC>gtT	p.V78V	IL1R2_ENST00000441002.1_Silent_p.V78V|IL1R2_ENST00000393414.2_Silent_p.V78V	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	78	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CTAGGACGGTCCCAGGAGAAG	0.597000													62	200					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023635	167023635	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167023635C>T	ENST00000392766.2	-	17	1861	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ZBBX_ENST00000392764.1_Silent_p.K478K|ZBBX_ENST00000455345.2_Silent_p.K507K|ZBBX_ENST00000392767.2_Silent_p.K507K|ZBBX_ENST00000307529.5_Silent_p.K507K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	507						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTTTCTCCTTTAAATTTC	0.338000													3	17					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592898	247592898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247592898G>A	ENST00000366497.2	+	5	2948	c.2168G>A	c.(2167-2169)aGc>aAc	p.S723N	NLRP3_ENST00000336119.3_Missense_Mutation_p.S723N|NLRP3_ENST00000391828.3_Missense_Mutation_p.S723N|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.S723N|NLRP3_ENST00000391827.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	728					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)			TTGGTGAACAGCCACCTCACT	0.507000													8	118					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458011	248458011	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248458011C>T	ENST00000317996.1	-	1	869	c.870G>A	c.(868-870)gtG>gtA	p.V290V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			CACTGTTCCTCACACTGTAGA	0.478000													15	109					0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31438930	31438930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:31438930G>A	ENST00000373747.3	-	13	2087	c.1988C>T	c.(1987-1989)tCc>tTc	p.S663F	PUM1_ENST00000440538.2_Missense_Mutation_p.S636F|PUM1_ENST00000373741.4_Missense_Mutation_p.S698F|PUM1_ENST00000426105.2_Missense_Mutation_p.S662F|PUM1_ENST00000424085.2_Missense_Mutation_p.S420F|PUM1_ENST00000423018.2_Missense_Mutation_p.S518F|PUM1_ENST00000373742.2_Missense_Mutation_p.S603F|PUM1_ENST00000257075.5_Missense_Mutation_p.S662F	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	662	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGAGCCCTGGGAGAAGAGGGA	0.582000													14	102					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226566885	226566885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226566885G>A	ENST00000366794.5	-	12	1846	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	568					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGTAGTAGGAGTTGGTTCC	0.547000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	94					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533272	94533272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:94533272C>T	ENST00000433060.2	+	3	1057	c.916C>T	c.(916-918)Cct>Tct	p.P306S	AMOTL1_ENST00000317829.8_Missense_Mutation_p.P256S|AMOTL1_ENST00000317837.9_Missense_Mutation_p.P306S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	306						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGTGCTGGACCCTCGGGGTCC	0.597000													7	93					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12356714	12356714	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:12356714G>A	ENST00000269143.3	-	9	1374	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	381					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCACACCAACGAACATCTCCA	0.542000													11	68					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108719109	108719109	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:108719109C>T	ENST00000218006.2	-	2	348	c.57G>A	c.(55-57)agG>agA	p.R19R		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	19					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCAGCAGTTTCCTGAAAGCCG	0.557000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:184787863C>T	ENST00000367511.3	-	9	1275	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537000													5	106					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17349598	17349598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:17349598C>T	ENST00000253692.7	-	14	2688	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TBC1D5_ENST00000429924.2_Missense_Mutation_p.E294K|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.E342K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E342K	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	342	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity	p.E342K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGGGGAACTCTCGTCCAAAT	0.438000													3	8					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767678	41767678	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41767678T>C	ENST00000394253.3	-	5	1891		c.e5-2		USP49_ENST00000373006.1_Splice_Site|USP49_ENST00000373010.1_Splice_Site|USP49_ENST00000373009.3_Splice_Site|USP49_ENST00000297229.2_Splice_Site			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTCGTTTGCCTATGTGGTTTG	0.433000													4	91					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713690	138713690	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138713690G>A	ENST00000389532.4	-	11	2881	c.2817C>T	c.(2815-2817)taC>taT	p.Y939Y	CAMSAP1_ENST00000409386.3_Silent_p.Y950Y|CAMSAP1_ENST00000312405.6_Silent_p.Y661Y|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	939						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTGCTGAGAGTACTCCTTTG	0.597000													14	154					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202568430	202568430	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202568430C>T	ENST00000367267.1	-	8	1161	c.969G>A	c.(967-969)aaG>aaA	p.K323K	SYT2_ENST00000367268.4_Silent_p.K323K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	323	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTGTCTTCTTCTTCTTGAGCC	0.552000													11	119					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415432	46415432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46415432G>A	ENST00000343801.4	+	3	1396	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CCR5_ENST00000445772.1_Missense_Mutation_p.E347K|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Missense_Mutation_p.E347K	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	347					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)	TGGGGAGCAGGAAATATCTGT	0.532000													5	34					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71495673C>T	ENST00000296755.7	+	5	6789	c.6491C>T	c.(6490-6492)cCg>cTg	p.P2164L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2164						microtubule|microtubule associated complex	structural molecule activity	p.P2164Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGTTCCCCCGGAGACTGAA	0.577000													8	38					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104486483	104486483	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104486483C>T	ENST00000369893.4	+	2	257	c.90C>T	c.(88-90)atC>atT	p.I30I	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	30					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCCTAAACATCACGGACCCCC	0.592000													10	70					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10428192	10428192	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10428192C>T	ENST00000360273.2	-	7	1350	c.912G>A	c.(910-912)gtG>gtA	p.V304V	ATP2B2_ENST00000352432.4_Silent_p.V304V|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000343816.4_Silent_p.V304V|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCTTCTTCACACCTGTGT	0.512000													9	52					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353934	220353934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220353934G>A	ENST00000312358.7	+	35	8440	c.8308G>A	c.(8308-8310)Ggt>Agt	p.G2770S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2770					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTTTGTCAGGGGTACTCAAGG	0.612000													11	118					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17644466	17644466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17644466G>A	ENST00000335393.4	+	5	614	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.R128Q|FAM129C_ENST00000599124.1_Missense_Mutation_p.R128Q|FAM129C_ENST00000352727.3_Missense_Mutation_p.R159Q|FAM129C_ENST00000595684.1_Missense_Mutation_p.R159Q|FAM129C_ENST00000332386.5_Missense_Mutation_p.R159Q|FAM129C_ENST00000300971.2_Missense_Mutation_p.R159Q|FAM129C_ENST00000601861.1_Missense_Mutation_p.R128Q|FAM129C_ENST00000600871.1_Missense_Mutation_p.R105Q	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	159										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						ACTTCCCAGCGAGAATATCTC	0.542000													20	67					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146686877	146686877	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146686877C>T	ENST00000508784.1	-	12	3101	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	ZNF827_ENST00000513320.1_Silent_p.K608K|ZNF827_ENST00000379448.4_Silent_p.K958K			Q17R98	ZN827_HUMAN	zinc finger protein 827	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CGCTGGGGGTCTTCCTGTCTT	0.453000													4	64					0	0	1	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191797	54191797	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54191797C>T	ENST00000408494.1	+	0	63					NR_031573.1																						AAAGCGCTTCCCTTTTGAGGG	0.433000													6	25					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504380	151504380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151504380G>A	ENST00000317605.4	+	1	1304	c.199G>A	c.(199-201)Gag>Aag	p.E67K	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	67					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGAGGGGCTCGAGGTCATTTC	0.602000													4	37					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593341	137593341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137593341C>T	ENST00000274721.3	-	4	1018	c.772G>A	c.(772-774)Gac>Aac	p.D258N	GFRA3_ENST00000378362.3_Missense_Mutation_p.D227N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	258					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAAGCGGGTCGGAGAAGCAG	0.692000													5	19					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105945824	105945824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105945824C>T	ENST00000357060.3	-	15	2033	c.1918G>A	c.(1918-1920)Gga>Aga	p.G640R	WDR96_ENST00000278064.2_Missense_Mutation_p.G571R|WDR96_ENST00000428666.1_Missense_Mutation_p.G641R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	640										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						AGTCCAGGTCCATACTGTCTG	0.378000													6	71					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484011	60484011	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60484011T>G	ENST00000450662.2	+	9	886	c.815T>G	c.(814-816)tTt>tGt	p.F272C	EFCAB3_ENST00000305286.3_Missense_Mutation_p.F220C	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	220							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGATTTATTTAAATTTCTT	0.388000													5	13					0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27676943	27676943	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27676943G>A	ENST00000543823.1	+	9	1434	c.972G>A	c.(970-972)cgG>cgA	p.R324R	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.R312R			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	324	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TGAAGAAACGGAATCTGAATC	0.597000													12	52					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71275385	71275385	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:71275385G>A	ENST00000395275.2	-	6	982	c.594C>T	c.(592-594)atC>atT	p.I198I	CALN1_ENST00000329008.5_Silent_p.I156I|CALN1_ENST00000431984.1_Silent_p.I156I|CALN1_ENST00000395276.2_Silent_p.I156I|CALN1_ENST00000405452.2_Silent_p.I156I|CALN1_ENST00000412588.1_Silent_p.I198I	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	156						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.I156I(1)|p.I198I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATTGATAATGATGTTCTCAA	0.507000													12	106					0	0	1	0	0
BRSK2	9024	broad.mit.edu	37	11	1466554	1466554	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1466554G>A	ENST00000308219.9	+	10	1229	c.843G>A	c.(841-843)caG>caA	p.Q281Q	BRSK2_ENST00000308230.5_Silent_p.Q281Q|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.Q221Q|BRSK2_ENST00000382179.1_Silent_p.Q327Q|BRSK2_ENST00000528841.1_Silent_p.Q281Q|BRSK2_ENST00000526678.1_Silent_p.Q281Q|BRSK2_ENST00000531197.1_Silent_p.Q281Q	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	281					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AACCAGAGCAGCCCATTCCTC	0.682000													7	27					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172485	78172485	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:78172485G>A	ENST00000369947.2	-	1	1005	c.636C>T	c.(634-636)tcC>tcT	p.S212S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	212					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACCCACCGTGGAGTAGACCG	0.587000													8	24					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050062	47050062	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47050062T>C	ENST00000450053.3	+	52	8110	c.7931T>C	c.(7930-7932)cTg>cCg	p.L2644P	NBEAL2_ENST00000383740.2_Missense_Mutation_p.L893P|NBEAL2_ENST00000292309.5_Missense_Mutation_p.L2460P	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2644							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGGCTTCACTGCCCCTGGCA	0.582000													9	77					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227617	75227617	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75227617C>T	ENST00000342232.4	-	2	658	c.618G>A	c.(616-618)aaG>aaA	p.K206K		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	206					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGCCCTTCTTCTTGCCCGCTA	0.652000													7	71					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501699	47501699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47501699C>T	ENST00000371901.3	+	6	881	c.631C>T	c.(631-633)Cct>Tct	p.P211S	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P210S	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	211						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CACCCATGATCCTTATGCAAA	0.373000													6	31					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266685	124266685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124266685G>A	ENST00000354597.3	-	1	579	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		GCTGGTGCAGGAAAGCTGGAG	0.473000													4	32					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103437	52103437	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:52103437G>A	ENST00000361781.2	-	7	1397	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SGMS1_ENST00000361543.2_Silent_p.F146F|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	152					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTGAGAACGAAACAGGAAA	0.502000													6	38					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688549	48688549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:48688549C>T	ENST00000236495.5	+	1	191	c.141C>T	c.(139-141)ttC>ttT	p.F47F	SLC5A9_ENST00000420136.2_Silent_p.F40F|SLC5A9_ENST00000533824.1_Silent_p.F47F|SLC5A9_ENST00000438567.2_Silent_p.F47F	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	47						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						ACTTTGTCTTCGTCATTGCTG	0.602000													4	24					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981794	61981794	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61981794G>A	ENST00000370263.4	-	5	1190	c.969C>T	c.(967-969)atC>atT	p.I323I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	323					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGAAGACCGTGATGACGATGG	0.607000													13	77					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72347041	72347041	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72347041G>A	ENST00000389916.4	+	12	1722	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	AC103809.2_ENST00000599136.1_Silent_p.F90F	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	528					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TGCGCAAGCAGAAGGTGTCCA	0.642000													16	94					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117788729	117788729	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:117788729C>T	ENST00000276204.6	+	43	4934	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	DOCK11_ENST00000276202.7_Silent_p.T1620T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1620	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAGGAAAACCTGGCTTGATA	0.428000													6	27					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680830	100680830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100680830C>T	ENST00000306151.4	+	3	6197	c.6133C>T	c.(6133-6135)Cca>Tca	p.P2045S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2045	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGGACCACTCCATTAGCAGG	0.502000													23	75					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61083838	61083838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61083838G>A	ENST00000373867.3	-	5	569	c.104C>T	c.(103-105)tCa>tTa	p.S35L	FAM13C_ENST00000419214.2_Missense_Mutation_p.S118L|FAM13C_ENST00000468840.2_Missense_Mutation_p.S35L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000422313.2_Missense_Mutation_p.S118L|FAM13C_ENST00000277705.6_Missense_Mutation_p.S118L|FAM13C_ENST00000373868.2_Missense_Mutation_p.S118L|FAM13C_ENST00000435852.2_Missense_Mutation_p.S118L|FAM13C_ENST00000442566.3_Missense_Mutation_p.S118L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	118										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGACACTCTGACTGGCTGGA	0.478000													8	30					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984005	41984005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41984005C>T	ENST00000333141.5	+	1	293	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	66										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAGCTTGGATCCCTCCTCTTT	0.532000													5	34					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943473	27943473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27943473C>T	ENST00000374005.3	-	7	865	c.577G>A	c.(577-579)Gat>Aat	p.D193N	FGR_ENST00000545953.1_Missense_Mutation_p.D127N|FGR_ENST00000374004.1_Missense_Mutation_p.D193N|FGR_ENST00000399173.1_Missense_Mutation_p.D193N	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	193	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCACATGATCGCCTCTGGTC	0.552000													25	73					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	197009663	197009663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197009663G>A	ENST00000346964.2	-	4	394	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	DLG1_ENST00000448528.2_Missense_Mutation_p.R69C|DLG1_ENST00000485409.1_5'UTR|DLG1_ENST00000314062.3_Missense_Mutation_p.R69C|DLG1_ENST00000392382.2_Missense_Mutation_p.R69C|DLG1_ENST00000422288.1_Missense_Mutation_p.R69C|DLG1_ENST00000450955.1_Missense_Mutation_p.R69C|DLG1_ENST00000357674.4_Missense_Mutation_p.R69C|DLG1_ENST00000419354.1_Missense_Mutation_p.R69C	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	69					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGCTTTGAACGATCTATACAT	0.358000													8	85					0	0	1	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74590268	74590268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74590268G>A	ENST00000451608.2	-	2	120	c.121C>T	c.(121-123)Cct>Tct	p.P41S	DCTN1_ENST00000407639.2_Missense_Mutation_p.P994S|DCTN1_ENST00000409567.3_Missense_Mutation_p.P1103S|DCTN1_ENST00000409438.1_Missense_Mutation_p.P989S|DCTN1_ENST00000409868.1_Missense_Mutation_p.P1106S|DCTN1_ENST00000409240.1_Missense_Mutation_p.P1086S|DCTN1_ENST00000361874.3_Missense_Mutation_p.P1128S|DCTN1_ENST00000394003.3_Missense_Mutation_p.P1121S																							ACATGCAGAGGGGGCAGGGAT	0.532000													4	49					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697791	99697791	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99697791G>A	ENST00000357195.3	-	3	540	c.531C>T	c.(529-531)ctC>ctT	p.L177L	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	177						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGCAGGGCGGGAGAGCGCCCA	0.701000			T	TLX3	T-ALL								5	16					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683343	140683343	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140683343G>A	ENST00000239451.4	-	1	269	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	30					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.F30F(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TTATTGTGTCGAAGGGCTGCC	0.597000													6	38					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231248	2231248	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2231248C>T	ENST00000343516.6	-	18	2213	c.2121G>A	c.(2119-2121)caG>caA	p.Q707Q		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	707					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						CCAGCAGCTCCTGCGAGCTGC	0.726000													6	17					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6606343	6606343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6606343G>A	ENST00000433363.2	-	5	895	c.662C>T	c.(661-663)aCc>aTc	p.T221I	SLC13A5_ENST00000381074.4_Missense_Mutation_p.T178I|SLC13A5_ENST00000573648.1_Missense_Mutation_p.T221I|SLC13A5_ENST00000293800.6_Missense_Mutation_p.T204I	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	221						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CAGGGTGGCGGTGCCCCCGAT	0.632000													5	95					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362762	84362762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:84362762C>T	ENST00000509231.1	-	1	1292	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	SATL1_ENST00000395409.3_Missense_Mutation_p.G218S|SATL1_ENST00000332921.5_Missense_Mutation_p.G218S			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	218	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGGCTTGTGCCTGATTGGCTG	0.532000													8	29					0	0	1	0	0
PRLH	51052	broad.mit.edu	37	2	238475779	238475779	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238475779C>T	ENST00000165524.1	+	2	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	75						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		TGACCTGCTTCCCCCTGGAAG	0.672000													4	40					0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226837	139226837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139226837G>A	ENST00000422142.2	+	4	575	c.503G>A	c.(502-504)tGg>tAg	p.W168*		NM_001080511.2	NP_001073980.2	P0C7M8	CLC2L_HUMAN	C-type lectin domain family 2, member L	168	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					GAATTCCACTGGGTCAACGGG	0.562000													3	19					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798161	42798161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42798161C>T	ENST00000572681.2	+	18	6901	c.6833C>T	c.(6832-6834)cCc>cTc	p.P2278L	CIC_ENST00000575354.2_Missense_Mutation_p.P1372L|CIC_ENST00000160740.3_Missense_Mutation_p.P1370L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGGTGCTGCCCTCCCCCACC	0.642000			"""Mis, F, S"""		oligodendroglioma								5	97					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270127	36270127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36270127C>T	ENST00000394571.2	+	6	1265	c.1265C>T	c.(1264-1266)tCa>tTa	p.S422L	PNPLA1_ENST00000312917.5_Missense_Mutation_p.S336L|PNPLA1_ENST00000388715.3_Missense_Mutation_p.S327L	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	422	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCACCCACTTCACCCAGGCCA	0.602000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	61					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3981385	3981385	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3981385G>A	ENST00000309311.6	-	7	1051	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	321						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGTTTGATGTCCAGTT	0.512000													17	176					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129288798	129288798	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129288798G>A	ENST00000393239.1	-	20	3931	c.3753C>T	c.(3751-3753)atC>atT	p.I1251I	PLXND1_ENST00000324093.4_Silent_p.I1251I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1251					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCCTACCTGGATCTGTGCAG	0.562000													6	33					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123087242	123087242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123087242C>T	ENST00000333479.7	+	46	4957	c.4780C>T	c.(4780-4782)Cac>Tac	p.H1594Y	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.H19Y|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1594					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ACTGCCTTTTCACCTGATATT	0.363000													7	42					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909212	65909212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65909212C>T	ENST00000321892.4	+	13	5651	c.5590C>T	c.(5590-5592)Cga>Tga	p.R1864*	BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1725*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1864*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1738*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1864					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGAGGAATCCGAGAGGTCCC	0.403000													13	86					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365518	36365518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36365518C>T	ENST00000221891.4	+	9	1361	c.1169C>T	c.(1168-1170)gCt>gTt	p.A390V	APLP1_ENST00000586861.1_Missense_Mutation_p.A384V|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.A351V	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	390					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCGCCGGGCTGCCTTGGAG	0.667000													8	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568945	179568945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179568945C>T	ENST00000589042.1	-	106	30376	c.30152G>A	c.(30151-30153)cGa>cAa	p.R10051Q	TTN_ENST00000591111.1_Missense_Mutation_p.R9734Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R8807Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9734	Glu-rich.						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)			GTCTTCTGCTCGAACATCTGC	0.428000													15	73					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42230109	42230109	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42230109C>T	ENST00000319977.4	+	5	1650	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	C17orf53_ENST00000245382.6_Intron|C17orf53_ENST00000585683.1_Silent_p.F471F	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	471										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGCTGCTTCCTCTGTACCT	0.537000													7	82					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192632	128192632	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:128192632G>A	ENST00000284694.7	-	3	1257	c.1137C>T	c.(1135-1137)aaC>aaT	p.N379N	C10orf90_ENST00000356858.3_Silent_p.N332N|C10orf90_ENST00000544758.1_Silent_p.N476N|C10orf90_ENST00000392694.1_Silent_p.N332N|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Silent_p.N379N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	379										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAGTGACTTGGTTAGCTCCCA	0.493000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226570804	226570804	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226570804G>T	ENST00000366794.5	-	8	1235	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	364					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGCCGCCACGGAGGCGCTGG	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					9	248					6.40141e-05	6.48587e-05	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17581265	17581265	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17581265A>T	ENST00000262102.6	-	4	2589	c.2365T>A	c.(2365-2367)Ttg>Atg	p.L789M	MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	789						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGACTTTTCAAAGATGCTTTG	0.453000													5	46					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528648	9528648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9528648C>T	ENST00000281419.3	+	22	2696	c.2356C>T	c.(2356-2358)Ccg>Tcg	p.P786S	ASAP2_ENST00000315273.4_Missense_Mutation_p.P786S|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	786	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CAGCGCCCCCCCGCTTCCTCC	0.577000													7	36					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73415021	73415021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:73415021C>T	ENST00000339362.5	+	4	1051	c.604C>T	c.(604-606)Cca>Tca	p.P202S	NEO1_ENST00000560262.1_Missense_Mutation_p.P202S|NEO1_ENST00000261908.6_Missense_Mutation_p.P202S|NEO1_ENST00000558964.1_Missense_Mutation_p.P202S			Q92859	NEO1_HUMAN	neogenin 1	202	Ig-like C2-type 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TATCAAACTTCCAAGTGGAAT	0.448000													4	25					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25182351	25182351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25182351G>A	ENST00000409280.1	-	8	1075	c.767C>T	c.(766-768)tCa>tTa	p.S256L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S256L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	256										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AGGGTCCCATGAATTTAAAGA	0.393000													7	50					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616062	25616062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25616062G>A	ENST00000232165.3	-	6	1915	c.1259C>T	c.(1258-1260)cCt>cTt	p.P420L	UBE3A_ENST00000566215.1_Missense_Mutation_p.P400L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000428984.2_Missense_Mutation_p.P400L|UBE3A_ENST00000438097.1_Missense_Mutation_p.P400L|UBE3A_ENST00000397954.2_Missense_Mutation_p.P423L	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	423	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCCACTCGAGGACCTTTCTT	0.433000													3	14					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60615435	60615435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60615435C>T	ENST00000227520.5	+	2	851	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CCDC86_ENST00000545580.1_Missense_Mutation_p.S10L|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	266					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CTGCGCACATCGTGGCAGCGG	0.622000													30	106					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6512052	6512052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6512052C>T	ENST00000377828.1	+	10	2389	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	ESPN_ENST00000461727.1_Missense_Mutation_p.P175S|ESPN_ENST00000416731.1_Missense_Mutation_p.P175S|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	741					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTCATCCCCACGCACGA	0.662000													3	17					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6919729	6919729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6919729C>T	ENST00000312053.4	+	13	1628	c.1591C>T	c.(1591-1593)Cca>Tca	p.P531S	EMR1_ENST00000250572.8_Missense_Mutation_p.P531S|EMR1_ENST00000381404.4_Missense_Mutation_p.P479S|EMR1_ENST00000450315.3_Missense_Mutation_p.P354S|EMR1_ENST00000381407.5_Missense_Mutation_p.P390S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	531	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCTCAGATCCAATCATCTA	0.483000													14	70					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203825973	203825973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203825973C>T	ENST00000320443.8	+	8	1699	c.656C>T	c.(655-657)tCa>tTa	p.S219L	CARF_ENST00000471271.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.S219L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545253.1_Missense_Mutation_p.S131L|CARF_ENST00000434998.1_Missense_Mutation_p.S117L|CARF_ENST00000444724.1_Missense_Mutation_p.S219L|CARF_ENST00000545262.1_Missense_Mutation_p.S143L|CARF_ENST00000456821.2_Intron|CARF_ENST00000402905.2_Missense_Mutation_p.S219L|CARF_ENST00000414439.1_Missense_Mutation_p.S117L|CARF_ENST00000428585.1_Missense_Mutation_p.S143L					calcium responsive transcription factor									p.S219L(1)									ATTGGAGATTCATACCGTGGC	0.388000													15	221					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151205165	151205165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151205165C>T	ENST00000409426.1	+	6	1034	c.589C>T	c.(589-591)Cca>Tca	p.P197S	PIP5K1A_ENST00000368890.4_Missense_Mutation_p.P196S|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.P209S|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.P197S			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	209	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	p.P196A(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAGCTGCTTCCAGGATACTA	0.498000													4	63					0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36038232	36038232	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36038232C>T	ENST00000392204.2	+	6	739	c.411C>T	c.(409-411)ttC>ttT	p.F137F	TMEM147_ENST00000222284.5_Silent_p.F186F|TMEM147_ENST00000392205.1_3'UTR	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	186						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGGACCTTCGTCCACCTCT	0.572000													7	71					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214972961	214972961	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:214972961C>T	ENST00000331683.5	+	14	1664	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	SPAG16_ENST00000374309.3_Silent_p.I429I	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	523					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGCATTCTATCAATGATGCCA	0.323000													3	13					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121732522	121732522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:121732522C>T	ENST00000452319.1	+	9	1265	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	GLI2_ENST00000435313.2_Intron|GLI2_ENST00000314490.11_Missense_Mutation_p.S74L|GLI2_ENST00000361492.4_Missense_Mutation_p.S402L			P10070	GLI2_HUMAN	GLI family zinc finger 2	402					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGACACGGCTCATGTGGGTGT	0.567000													15	67					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597994	3597994	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3597994T>C	ENST00000315212.3	-	4	833	c.478A>G	c.(478-480)Atc>Gtc	p.I160V		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	160	RNase H.				RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		TAAACGCCGATTCCTGCTCGC	0.517000													15	145					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012094	42012094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42012094G>A	ENST00000395925.3	-	13	2029	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	649					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTGGCGGCCGAGGATGGATG	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	100					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072429	133072429	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:133072429A>T	ENST00000326499.6	-	5	1179	c.1055T>A	c.(1054-1056)tTt>tAt	p.F352Y	VNN2_ENST00000525270.1_Missense_Mutation_p.F299Y|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	352					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TGCATTTTCAAAAAGTTCTGT	0.388000													6	39					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227963492	227963492	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227963492G>A	ENST00000396625.3	-	19	1329	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	COL4A4_ENST00000329662.7_Silent_p.F374F	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	374	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGCGGCCAGGGAACCCTGGGT	0.502000													4	29					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38172709	38172709	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38172709G>A	ENST00000373055.1	+	9	1044	c.771G>A	c.(769-771)gaG>gaA	p.E257E	CDCA8_ENST00000327331.2_Silent_p.E257E	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	257					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGATCCAGAGGCCTTGGGAA	0.483000													38	123					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3397100	3397100	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3397100G>A	ENST00000378378.4	+	15	2484	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	ARHGEF16_ENST00000378371.2_Silent_p.V405V|ARHGEF16_ENST00000378373.1_Silent_p.V405V|ARHGEF16_ENST00000413250.2_Silent_p.V397V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	693					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTGTGGCCGTGGAGGGCAATG	0.662000													6	48					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8401339	8401339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8401339G>A	ENST00000356406.5	-	8	894	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F	ACOX3_ENST00000503233.1_Missense_Mutation_p.L273F|ACOX3_ENST00000413009.2_Missense_Mutation_p.L273F	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	273					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.L273F(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CGGTTCAGAAGGCTCTGGCGA	0.602000													4	49					0	0	1	0	0
PSMA7	5688	broad.mit.edu	37	20	60714804	60714804	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60714804C>T	ENST00000370858.3	-	3	507	c.381G>A	c.(379-381)ctG>ctA	p.L127L	PSMA7_ENST00000370873.4_Intron|PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Intron			O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCCTGCTGCCAGAGGTGAGC	0.577000													8	54					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45297674	45297674	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45297674G>A	ENST00000447098.2	-	4	509	c.498C>T	c.(496-498)ccC>ccT	p.P166P	PTCH2_ENST00000372192.3_Silent_p.P166P	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	166					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTTCAATAAGGGGAACTCCTG	0.507000									Basal Cell Nevus syndrome				31	124					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8139499	8139499	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8139499C>T	ENST00000315684.8	-	6	961	c.954G>A	c.(952-954)ctG>ctA	p.L318L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	318					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GCTCCAGTTCCAGCTCCTGCA	0.567000													7	40					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680798	128680798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:128680798C>T	ENST00000344954.6	+	9	1563	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	FLI1_ENST00000429175.2_Missense_Mutation_p.S425F|FLI1_ENST00000525560.1_Missense_Mutation_p.S232F|FLI1_ENST00000281428.8_Missense_Mutation_p.S359F|FLI1_ENST00000534087.1_Missense_Mutation_p.S392F			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	425					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TACTGGACCTCCCCCACGGGG	0.567000			T	EWSR1	Ewing sarcoma								5	51					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301751	301751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:301751G>A	ENST00000428720.1	-	15	2337	c.1594C>T	c.(1594-1596)Ccg>Tcg	p.P532S	SLC6A12_ENST00000536824.1_Missense_Mutation_p.P532S|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P532S|SLC6A12_ENST00000397296.2_Missense_Mutation_p.P532S|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P532S	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	532					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCCCAGGGCGGGTACACATAG	0.562000													11	101					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677804	149677804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149677804G>A	ENST00000328668.7	-	2	1262	c.683C>T	c.(682-684)cCc>cTc	p.P228L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	228						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGAAGAGGGGACGCTGAGG	0.637000													7	26					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46311850	46311850	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46311850C>A	ENST00000397850.2	-	12	1738	c.1286G>T	c.(1285-1287)cGg>cTg	p.R429L	ITGB2_ENST00000397857.1_Missense_Mutation_p.R429L|ITGB2_ENST00000302347.5_Missense_Mutation_p.R429L|ITGB2_ENST00000355153.4_Missense_Mutation_p.R429L|ITGB2_ENST00000397854.3_Missense_Mutation_p.R372L|ITGB2_ENST00000397852.1_Missense_Mutation_p.R429L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	429					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCAGCGCCCGGATGACAAA	0.637000													3	26					1	1	1	1	0
MUC16	94025	broad.mit.edu	37	19	9071744	9071744	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9071744G>A	ENST00000397910.4	-	3	15905	c.15702C>T	c.(15700-15702)tcC>tcT	p.S5234S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTGGGGTGGAAATTTTGC	0.478000													10	42					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10291130	10291130	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10291130C>T	ENST00000287652.4	+	2	1297	c.246C>T	c.(244-246)tcC>tcT	p.S82S	RP11-438J1.1_ENST00000450534.1_Silent_p.S25S|TATDN2_ENST00000448281.2_Silent_p.S82S	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	82						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ACTCCTCCTCCTCCTTCTCCC	0.632000													12	168					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335465	20335465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20335465C>T	ENST00000302555.5	-	3	357	c.208G>A	c.(208-210)Gat>Aat	p.D70N	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.D70N			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	70						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AAGGGTTCATCCAGGAGGGTG	0.557000													9	44					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423026	26423026	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26423026G>A	ENST00000335473.7	+	43	7336	c.7086G>A	c.(7084-7086)ggG>ggA	p.G2362G	MYO18B_ENST00000407587.2_Silent_p.G2363G|MYO18B_ENST00000536101.1_Silent_p.G2362G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2362						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGCATGGGGAGAAAACTGA	0.582000													13	96					0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46474785	46474785	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:46474785G>A	ENST00000262158.2	-	2	922	c.636C>T	c.(634-636)tcC>tcT	p.S212S	SMAD7_ENST00000591805.1_5'UTR|SMAD7_ENST00000589634.1_Silent_p.S212S	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	212	Important for interaction with SMURF2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCGGGTATCTGGAGTAAGGAG	0.393000													4	61					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302238	123302238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123302238G>A	ENST00000296513.2	+	4	449	c.264G>A	c.(262-264)atG>atA	p.M88I	ADAD1_ENST00000388724.2_Missense_Mutation_p.M88I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.M70I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	88					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AATTTATAATGAAATACAAAC	0.388000													14	59					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222821	140222821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140222821G>A	ENST00000531613.1	+	1	1915	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E639K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.647000													7	103					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532833	92532833	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92532833C>T	ENST00000298047.6	+	9	6671	c.6654C>T	c.(6652-6654)atC>atT	p.I2218I	FAT3_ENST00000409404.2_Silent_p.I2218I|FAT3_ENST00000525166.1_Silent_p.I2068I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2218	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCAAGGCATCATATATATCA	0.403000										TCGA Ovarian(4;0.039)			15	114					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916565	7916565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7916565C>T	ENST00000254854.4	+	11	2408	c.2258C>T	c.(2257-2259)cCc>cTc	p.P753L		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	753	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GAGCTCACTCCCGAGGGTAAG	0.602000													3	17					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80899225	80899225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:80899225G>A	ENST00000403729.2	-	15	1808	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	ANTXR2_ENST00000307333.7_Missense_Mutation_p.P428L|ANTXR2_ENST00000346652.6_Missense_Mutation_p.P325L|ANTXR2_ENST00000404191.1_Missense_Mutation_p.P351L	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	428						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						AGGTGGTCTAGGCCTGATGGG	0.463000									Juvenile Hyaline Fibromatosis				7	63					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683577	100683577	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100683577C>T	ENST00000306151.4	+	3	8944	c.8880C>T	c.(8878-8880)acC>acT	p.T2960T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2960	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTCACCACTTCTGCTG	0.488000													32	146					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777367	79777367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79777367G>A	ENST00000372371.3	-	10	1534	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	466					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTGCAGCGAGGGCTGCCGATT	0.443000													10	47					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993539	76993539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76993539G>A	ENST00000302345.2	-	2	660	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	CANT1_ENST00000591773.1_Missense_Mutation_p.L56F|CANT1_ENST00000392446.5_Missense_Mutation_p.L56F	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGCAGCCAGAGGATGGCAGCA	0.692000			T	ETV4	prostate								7	27					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254056	49254056	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49254056G>A	ENST00000310160.3	-	4	1457	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGCTTCAGGAAAGGATCTC	0.612000													8	199					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807986	18807986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18807986G>A	ENST00000400664.1	+	1	563	c.511G>A	c.(511-513)Gga>Aga	p.G171R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	171						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCAGCTGGACTCATTGC	0.617000													5	52					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62430563	62430563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62430563G>A	ENST00000524958.1	-	4	351	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	C11orf48_ENST00000431002.2_3'UTR|C11orf48_ENST00000354588.3_3'UTR|C11orf48_ENST00000532208.1_3'UTR|RP11-831H9.11_ENST00000528405.1_Intron			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	266										endometrium(1)|lung(5)|urinary_tract(1)	7						ACATCCTGGGGGGCTTTTGTC	0.468000													10	32					0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134133142	134133142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:134133142G>A	ENST00000285930.4	-	6	735	c.656C>T	c.(655-657)cCc>cTc	p.P219L		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	219					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGCTCACCAGGGCCTGTCAGG	0.522000													5	85					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9005594	9005594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9005594G>A	ENST00000397910.4	-	46	40015	c.39812C>T	c.(39811-39813)cCc>cTc	p.P13271L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13273	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGTAGGGTCCCAGCTC	0.547000													9	64					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205813996	205813996	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205813996C>T	ENST00000367136.4	-	4	563	c.519G>A	c.(517-519)ctG>ctA	p.L173L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	173						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACTTCCTGATCAGCAGGAGCT	0.488000													4	53					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44039743	44039743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44039743C>T	ENST00000344290.5	+	2	362	c.40C>T	c.(40-42)Cac>Tac	p.H14Y	MAPT_ENST00000574436.1_Missense_Mutation_p.H14Y|MAPT_ENST00000571987.1_Missense_Mutation_p.H14Y|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000334239.8_Missense_Mutation_p.H14Y|MAPT_ENST00000420682.2_Missense_Mutation_p.H14Y|MAPT_ENST00000415613.2_Missense_Mutation_p.H14Y|MAPT_ENST00000340799.5_Missense_Mutation_p.H14Y|MAPT_ENST00000535772.1_Missense_Mutation_p.H14Y|MAPT_ENST00000262410.5_Missense_Mutation_p.H14Y|MAPT_ENST00000351559.5_Missense_Mutation_p.H14Y|MAPT_ENST00000431008.3_Missense_Mutation_p.H14Y|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000446361.3_Missense_Mutation_p.H14Y	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	14					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GATGGAAGATCACGCTGGGAC	0.567000													7	18					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745685	135745685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135745685G>A	ENST00000375845.3	-	7	787	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	MAP3K19_ENST00000358371.4_Missense_Mutation_p.R140C|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R270C|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCAGATTGACGAACAGACACT	0.458000													5	73					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64200735	64200735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64200735C>T	ENST00000261891.3	-	11	1102	c.1097G>A	c.(1096-1098)aGg>aAg	p.R366K	DAPK2_ENST00000457488.1_Missense_Mutation_p.R366K			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	366					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GGTGCTGCTCCTCCTCCGTGG	0.607000													4	23					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160964243	160964243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160964243G>A	ENST00000283249.2	-	14	2452	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ITGB6_ENST00000409967.2_Missense_Mutation_p.R632C|ITGB6_ENST00000409872.1_Missense_Mutation_p.R739C|ITGB6_ENST00000428609.2_Missense_Mutation_p.R697C			P18564	ITB6_HUMAN	integrin, beta 6	739	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTTCTTTACGATCATGAAAT	0.458000													4	33					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210883	134210883	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:134210883C>T	ENST00000367882.4	+	1	608	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.S116S	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	116	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCAAGCTCTCCAAGCTGGACA	0.632000													11	94					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139110984	139110984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139110984G>A	ENST00000358701.5	-	7	885	c.848C>T	c.(847-849)tCg>tTg	p.S283L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	283					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAAATAAGACGAAAAGAAGGC	0.468000													7	63					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083865	8083865	+	Silent	SNP	G	G	A	rs150412980		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8083865G>A	ENST00000075120.7	-	4	726	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	162					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCCAACAACGATGCCCAGCT	0.478000													5	52					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Silent_p.I605I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					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						AGTTGACCACGATCCAGTTGC	0.622000													8	210					0	0	1	0	0
CCT2	10576	broad.mit.edu	37	12	69983283	69983283	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:69983283C>T	ENST00000543146.2	+	7	806	c.324C>T	c.(322-324)ttC>ttT	p.F108F	CCT2_ENST00000544368.2_Silent_p.F155F|CCT2_ENST00000299300.6_Silent_p.F155F	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	155					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AAGTTAAATTCCGTCAAGATT	0.303000													4	25					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103041539	103041539	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:103041539C>T	ENST00000418604.1	+	4	617	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	PLP1_ENST00000303958.2_Silent_p.L113L|PLP1_ENST00000361621.2_Silent_p.L113L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	113					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CGGCAAGGGCCTGAGCGCAAC	0.582000													12	53					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66040613	66040613	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66040613C>T	ENST00000537025.2	+	9	1961	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	KPNA2_ENST00000330459.3_Silent_p.I447I			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	447					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCAAATATCTTTCAGGTAA	0.378000													19	336					0	0	1	0	0
RMDN2	151393	broad.mit.edu	37	2	38208450	38208450	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:38208450T>A	ENST00000407257.1	+	5	1436	c.1289T>A	c.(1288-1290)aTt>aAt	p.I430N	RMDN2_ENST00000354545.2_Missense_Mutation_p.I252N|RMDN2_ENST00000234195.3_Missense_Mutation_p.I430N|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.I107N|RMDN2_ENST00000406384.1_Missense_Mutation_p.I252N					regulator of microtubule dynamics 2																		GAAAGAGCTATTAATAGAGCA	0.328000													25	62					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184777334	184777334	+	Silent	SNP	G	G	A	rs149201304	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:184777334G>A	ENST00000367511.3	-	10	1402	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	403					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCATCTTCACGGAATGCAGCG	0.468000													6	43					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47563360	47563360	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47563360G>A	ENST00000285039.7	-	4	614	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	105	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAACAAGTACGATACCTGCAA	0.458000													3	15					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251796	47251796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:47251796G>A	ENST00000296861.2	-	3	1514	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	374					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CAGAGTCCTCGAGCTTTTCCG	0.517000													11	66					0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738630	41738630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41738630G>A	ENST00000549132.1	-	1	301	c.185C>T	c.(184-186)cCc>cTc	p.P62L	MEOX1_ENST00000329168.3_Silent_p.S91S|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000318579.4_Silent_p.S91S			P50221	MEOX1_HUMAN	mesenchyme homeobox 1	39						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCCAGTTGGGGGACTGTGGGA	0.667000													18	94					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334189	39334189	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39334189G>A	ENST00000377726.2	-	1	271	c.228C>T	c.(226-228)tgC>tgT	p.C76C		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	76	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCTGGGACGGCAGCAGGTGG	0.667000													9	75					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32163542	32163542	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32163542G>A	ENST00000373672.3	-	6	1138	c.622C>T	c.(622-624)Cta>Tta	p.L208L	COL16A1_ENST00000373668.3_Silent_p.L208L|COL16A1_ENST00000271069.6_Silent_p.L208L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	208	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAAGCCTAGAAATACATGG	0.627000													6	76					0	0	1	0	0
CRB3	92359	broad.mit.edu	37	19	6465617	6465617	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6465617C>T	ENST00000598494.1	+	3	675	c.144C>T	c.(142-144)tcC>tcT	p.S48S	CRB3_ENST00000600229.1_Silent_p.S48S|CRB3_ENST00000356762.3_Silent_p.S48S|CRB3_ENST00000308243.7_Silent_p.S48S			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	48					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						GCTCCAGCTCCGATGGCAACC	0.498000													43	215					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141554381	141554381	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:141554381G>A	ENST00000220592.5	-	14	1882	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P	AGO2_ENST00000519980.1_Silent_p.P590P	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GAAAGATGACGGGCTGCTGGA	0.652000													8	132					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79236828	79236828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79236828G>A	ENST00000264895.6	+	16	2199	c.1759G>A	c.(1759-1761)Ggg>Agg	p.G587R	FRAS1_ENST00000264899.6_Missense_Mutation_p.G587R|FRAS1_ENST00000325942.6_Missense_Mutation_p.G587R	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	587					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						GCTGCATGATGGGAAATGCAT	0.502000													4	42					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475106	50475106	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50475106G>A	ENST00000602139.1	+	0	1052									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CCTAGTCCTGGAAAACCTGAG	0.642000													4	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060710	9060710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9060710C>T	ENST00000397910.4	-	3	26939	c.26736G>A	c.(26734-26736)atG>atA	p.M8912I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8914	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGATATTCATACTGGGAG	0.498000													9	41					0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533450	29533450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29533450C>T	ENST00000400338.2	+	6	805	c.752C>T	c.(751-753)gCc>gTc	p.A251V	KREMEN1_ENST00000407188.1_Missense_Mutation_p.A249V|KREMEN1_ENST00000327813.5_Missense_Mutation_p.A251V|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A251V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	249	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GTTCCGGGGGCCTCCCACATC	0.602000													9	76					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149148	52149148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52149148G>A	ENST00000360844.6	-	3	628	c.587C>T	c.(586-588)tCg>tTg	p.S196L	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	196	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGTGAGCTCCGAGGAGCGGGT	0.642000													7	19					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969707	2969707	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2969707G>A	ENST00000396946.4	-	12	1975	c.1570_splice	c.e12-1	p.A524_splice		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	524					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGTGCCCCTTGGCTGTCCTCA	0.607000			Mis		DLBCL								6	52					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955218	116955218	+	Silent	SNP	G	G	A	rs142048882	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116955218G>A	ENST00000265441.3	-	3	794	c.495C>T	c.(493-495)atC>atT	p.I165I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	165					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGGCAAATTTGATCCCATAGT	0.468000													6	63					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943605	9943605	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9943605A>T	ENST00000506583.1	-	8	876	c.659T>A	c.(658-660)cTt>cAt	p.L220H	SLC2A9_ENST00000309065.3_Missense_Mutation_p.L220H|SLC2A9_ENST00000264784.3_Missense_Mutation_p.L249H			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	249					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GAGAAAGGGAAGGCTCAGCAG	0.587000													5	54					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686004	125686004	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125686004C>T	ENST00000371126.1	-	1	830	c.588G>A	c.(586-588)tgG>tgA	p.W196*		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	196										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGCGAAGATCCAGTCCTTGT	0.667000													9	14					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005305	1005305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1005305G>A	ENST00000234389.3	+	3	1824	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	602					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCCCCTACGGCCTCACGCCA	0.642000													6	55					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661819	36661819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661819G>A	ENST00000319136.4	+	7	1252	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	APOL1_ENST00000426053.1_Missense_Mutation_p.E295K|APOL1_ENST00000422706.1_Missense_Mutation_p.E313K|APOL1_ENST00000397279.4_Missense_Mutation_p.E313K|APOL1_ENST00000397278.3_Missense_Mutation_p.E313K|APOL1_ENST00000347595.7_Missense_Mutation_p.E192K	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	313					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AATCTCAGCTGAAAGCGGTGA	0.562000													6	73					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293808	10293808	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10293808T>A	ENST00000403437.2	-	40	5871	c.5777A>T	c.(5776-5778)aAg>aTg	p.K1926M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1926					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTCGGCTCTTCACTCGCAA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	117					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722884	46722884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46722884C>T	ENST00000318962.4	-	13	1371	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E430K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	430				E -> G (in Ref. 2; BAD18448).	endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TTGTACACCTCGTCGGTGCTG	0.652000													5	94					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61432354	61432354	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61432354C>T	ENST00000424789.2	+	12	1967	c.1963C>T	c.(1963-1965)Cta>Tta	p.L655L	TANC2_ENST00000389520.4_Silent_p.L655L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	655							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGGGTCCTATCTATATCTGAA	0.383000													6	87					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34104504	34104504	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:34104504T>G	ENST00000341394.4	+	9	1071	c.882T>G	c.(880-882)taT>taG	p.Y294*	CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.Y213*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.Y294*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.Y294*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.Y294*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	294					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTTTGCAGTATGTAAATAGAC	0.383000													6	33					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4704291	4704291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4704291G>A	ENST00000262960.9	-	6	729	c.452C>T	c.(451-453)tCt>tTt	p.S151F	DPP9_ENST00000594671.1_Missense_Mutation_p.S122F|DPP9_ENST00000597849.1_Missense_Mutation_p.S151F|DPP9_ENST00000598800.1_Missense_Mutation_p.S122F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	122					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCTCCCGAGAGTAGACCCC	0.642000													19	112					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821733	97821733	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97821733C>T	ENST00000297293.5	+	11	2249	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	652					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAAAATATTCGACTTAATGG	0.433000													15	54					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732449	144732449	+	Missense_Mutation	SNP	C	C	T	rs138574970		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144732449C>T	ENST00000501748.2	+	1	496	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ZNF623_ENST00000458270.2_Missense_Mutation_p.S96L|ZNF623_ENST00000526926.1_Missense_Mutation_p.S96L	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACGTTTAATTCGGACCTAGTT	0.478000													6	86					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928468	56928468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56928468C>T	ENST00000438926.2	+	22	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_ENST00000262502.5_Silent_p.L848L|SLC12A3_ENST00000566786.1_Silent_p.L857L|SLC12A3_ENST00000563236.1_Silent_p.L849L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557000													6	29					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922528	140922528	+	Missense_Mutation	SNP	C	C	T	rs144046998		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:140922528C>T	ENST00000389328.4	-	20	3135	c.3121G>A	c.(3121-3123)Gac>Aac	p.D1041N	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.D943N|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.D934N	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	943					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTGAACTTGTCCACTTGAATA	0.537000													10	40					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680091	181680091	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181680091G>A	ENST00000526775.1	+	8	1222	c.1055_splice	c.e8-1	p.E353_splice	CACNA1E_ENST00000358338.5_Splice_Site_p.E304_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.E353_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.E304_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.E353_splice|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Splice_Site_p.E353_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	353					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTCCACAGGGAATTTGCCAA	0.517000													9	26					0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153657475	153657475	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153657475C>T	ENST00000369762.2	+	2	304	c.243C>T	c.(241-243)gcC>gcT	p.A81A		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	81					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGATCCCGCCCTGGAGCTGG	0.652000													11	62					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719074	140719074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140719074C>T	ENST00000394576.2	+	1	536	c.536C>T	c.(535-537)tCc>tTc	p.S179F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCACTTCTCCCTGGACGTG	0.557000													5	59					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693442	153693442	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153693442C>T	ENST00000369682.3	+	11	2300	c.2125C>T	c.(2125-2127)Cta>Tta	p.L709L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	709					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTAAGAACCTACCTCAGCC	0.647000													3	19					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84911069	84911069	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84911069C>T	ENST00000262424.5	+	12	1406	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	CRISPLD2_ENST00000567845.1_Silent_p.T393T|CRISPLD2_ENST00000564567.1_Silent_p.T394T	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	394	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTACACGACCGTTGCTCAGC	0.552000													13	54					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183938543	183938543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183938543G>A	ENST00000361927.4	-	5	1063	c.692C>T	c.(691-693)cCc>cTc	p.P231L	COLGALT2_ENST00000546159.1_Missense_Mutation_p.P231L	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CATGGGGACGGGGAAGCAGCC	0.522000													5	54					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32344962	32344962	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:32344962C>T	ENST00000375200.1	+	6	1115	c.750C>T	c.(748-750)aaC>aaT	p.N250N	ZNF341_ENST00000342427.2_Silent_p.N250N			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGGTGCCAAACCAGTGTGTGG	0.597000													29	196					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233987	61233987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61233987G>A	ENST00000382768.1	+	7	1021	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	SERPINB12_ENST00000269491.1_Missense_Mutation_p.D321N			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	321					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGGCATTACGGATATCTTTGA	0.433000													8	134					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15811116	15811116	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15811116C>T	ENST00000338282.6	-	38	5491	c.5385G>A	c.(5383-5385)aaG>aaA	p.K1795K	MYH11_ENST00000576790.1_Silent_p.K1795K|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.K1802K|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Silent_p.K1802K|MYH11_ENST00000300036.5_Silent_p.K1795K|NDE1_ENST00000342673.5_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1795					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						TCCGGAGCTCCTTGTTCTGCC	0.647000			T	CBFB	AML								9	113					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182584161	182584161	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182584161C>T	ENST00000323116.5	+	14	1809	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	517					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GCAATCCAACCTGGCACCATC	0.443000													3	19					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895433	43895433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43895433C>T	ENST00000562955.1	+	28	4055	c.4055C>T	c.(4054-4056)cCa>cTa	p.P1352L	SZT2_ENST00000372442.1_Missense_Mutation_p.P510L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1409						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGGCATTCCAGACCCTGGG	0.552000													5	74					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521723	149521723	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149521723G>A	ENST00000378016.2	+	0	13802							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)			GCACCCCTCAGCCAGCAGCGC	0.697000													4	13					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17362445	17362445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17362445C>T	ENST00000252597.3	-	12	2041	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	USHBP1_ENST00000431146.2_Missense_Mutation_p.R559Q|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	623							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCGTCTGGCTCGCCCCTTCTG	0.612000													17	117					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486454	133486454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133486454C>T	ENST00000409261.1	-	18	5888	c.5515G>A	c.(5515-5517)Gaa>Aaa	p.E1839K	NCKAP5_ENST00000409213.1_Missense_Mutation_p.E520K|NCKAP5_ENST00000405974.3_Missense_Mutation_p.E520K|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1839K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1839							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						ATTGGGTCTTCAGCATATCCG	0.547000													9	114					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160557581	160557581	+	Silent	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160557581T>A	ENST00000366963.4	+	6	1107	c.960T>A	c.(958-960)ctT>ctA	p.L320L	SLC22A1_ENST00000324965.4_Silent_p.L320L|SLC22A1_ENST00000457470.2_Silent_p.L320L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	320						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTAGATGCTTTCCCTCGAAG	0.597000													5	94					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433842	73433842	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:73433842G>A	ENST00000263666.4	-	10	1989	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	PDZRN3_ENST00000535920.1_Silent_p.F347F|PDZRN3_ENST00000462146.2_Silent_p.F282F|PDZRN3_ENST00000466780.1_Silent_p.F282F|PDZRN3_ENST00000479530.1_Silent_p.F342F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	625							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGCCGAAATGAAAGACTCGT	0.662000													5	87					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908473	2908473	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:2908473C>A	ENST00000397461.1	+	7	876	c.492C>A	c.(490-492)tcC>tcA	p.S164S	CNTN4_ENST00000418658.1_Silent_p.S164S|CNTN4_ENST00000427331.1_Silent_p.S164S|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATACCCTTCCTATCAGGATA	0.378000													7	28					2.17888e-05	2.20919e-05	1	1	0
TECTB	6975	broad.mit.edu	37	10	114061864	114061864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114061864G>A	ENST00000369422.3	+	9	913	c.913G>A	c.(913-915)Gga>Aga	p.G305R	TECTB_ENST00000494328.1_3'UTR	NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	305						anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TACAGGCAGGGGATTTTCCAG	0.423000													5	63					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767630	39767630	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39767630C>T	ENST00000301653.4	-	3	802	c.738G>A	c.(736-738)gaG>gaA	p.E246E		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	246	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGCCAGCTCCTCCTTCAGGC	0.647000													4	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064755	9064755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9064755G>A	ENST00000397910.4	-	3	22894	c.22691C>T	c.(22690-22692)tCt>tTt	p.S7564F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7566	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACACTTTAGAAAGAACAGT	0.498000													5	32					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90497824	90497824	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90497824C>T	ENST00000325643.5	+	1	84	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ATCTCGTCATCCCTCTAGGGA	0.607000													5	43					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651718	128651718	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:128651718G>A	ENST00000281154.4	+	1	186	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	6					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GTGAGCCTGCGAAAAAGAAGG	0.552000													8	50					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085848	110085848	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110085848C>T	ENST00000527748.1	+	2	887	c.204C>T	c.(202-204)gcC>gcT	p.A68A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGTGATCGCCAAGACGCCTG	0.602000													8	110					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100919445C>T	ENST00000393437.3	-	3	1498	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E44K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000													13	57					0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43591732	43591732	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43591732G>A	ENST00000307126.5	-	8	1173	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.L304L	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	392							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGTGGCGGCAGAATATTCAGA	0.512000													7	104					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50450371	50450371	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50450371G>A	ENST00000331340.3	+	5	710	c.555G>A	c.(553-555)agG>agA	p.R185R	IKZF1_ENST00000439701.1_Silent_p.R185R|IKZF1_ENST00000359197.5_Silent_p.R185R|IKZF1_ENST00000357364.4_Silent_p.R185R|IKZF1_ENST00000343574.5_Silent_p.R98R|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Silent_p.R98R|IKZF1_ENST00000440768.2_Silent_p.R185R|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	185	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCGGAGGGACGCCCTCA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	20					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83456169	83456169	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:83456169C>T	ENST00000334574.8	-	0	155				FSD2_ENST00000541889.1_De_novo_Start_InFrame			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2											breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTCAGAAGCACCTTTATATAA	0.468000													6	58					0	0	1	0	0
TRAC	28755	broad.mit.edu	37	14	23020918	23020918	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23020918C>T	ENST00000478163.3	+	0	795																											GCTCTAGGTCCCGGAGAATGT	0.473000													13	36					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301785	27301785	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27301785C>T	ENST00000397501.1	+	28	3019	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	PTK2B_ENST00000544172.1_Silent_p.F737F|PTK2B_ENST00000517339.1_Silent_p.F737F|PTK2B_ENST00000338238.4_Silent_p.F737F|PTK2B_ENST00000397497.4_Silent_p.F483F|PTK2B_ENST00000420218.2_Silent_p.F737F|PTK2B_ENST00000346049.5_Silent_p.F737F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	737	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCTGCAGTTCCAGGTAAAGA	0.547000													5	51					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50596997	50596997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50596997C>T	ENST00000444124.2	-	5	679	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	DDC_ENST00000357936.5_Missense_Mutation_p.R160Q|DDC_ENST00000380984.4_Missense_Mutation_p.R160Q|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Missense_Mutation_p.R82Q|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	160	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACTTTGGTCCGAGCGGCCAG	0.557000													6	68					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9154728	9154728	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:9154728G>A	ENST00000382496.5	-	12	2018	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	451	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCCTCTCAGGGAAGAGCTCAA	0.557000													9	54					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33134452	33134452	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33134452C>T	ENST00000373493.5	+	5	756	c.597C>T	c.(595-597)gaC>gaT	p.D199D	RBBP4_ENST00000373485.1_Silent_p.D199D|RBBP4_ENST00000458695.2_Silent_p.D164D|RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000414241.3_Silent_p.D198D	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	199					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTTCAGATGACCATGTGTGTA	0.458000													4	61					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99517446	99517446	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99517446C>T	ENST00000393677.4	+	12	1341	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000370610.3_Silent_p.S279S|ZFYVE27_ENST00000357540.4_Silent_p.S286S|ZFYVE27_ENST00000337540.7_Silent_p.S340S|ZFYVE27_ENST00000370613.3_Silent_p.S254S|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000356257.4_Silent_p.S384S|ZFYVE27_ENST00000359980.3_Silent_p.S372S	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	379					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GATGCTGCTCCTTCAAGGTGC	0.597000													24	101					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3735877	3735877	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3735877G>A	ENST00000541714.2	+	10	1533	c.1071G>A	c.(1069-1071)agG>agA	p.R357R	TJP3_ENST00000262968.9_Silent_p.R390R|TJP3_ENST00000587686.1_Silent_p.R376R|TJP3_ENST00000539908.2_Silent_p.R321R|TJP3_ENST00000382008.3_Silent_p.R371R|TJP3_ENST00000589378.1_Silent_p.R366R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	371						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTGCCCAGGGAAAGCAGCT	0.512000													37	113					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997356	85997356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:85997356G>A	ENST00000372105.3	-	2	230	c.209C>T	c.(208-210)gCc>gTc	p.A70V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	70						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCTGCGTATGGCCGTCCGCTC	0.672000													6	82					0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45381853	45381853	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45381853C>T	ENST00000252485.4	+	6	1767	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	531					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCTCCCTCATCTCACGGCGGG	0.637000													35	255					0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226784510	226784510	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226784510C>T	ENST00000366788.3	+	2	315	c.210C>T	c.(208-210)ttC>ttT	p.F70F	C1orf95_ENST00000366789.4_Silent_p.F70F	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	70						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CAGGGACATTCGTCTCGGCCT	0.632000													7	105					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45487413	45487413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45487413G>A	ENST00000334940.6	+	10	1029	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	RASSF4_ENST00000340258.4_Missense_Mutation_p.E290K|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	290	SARAH.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAATTAAAAGAAGAGGAAGA	0.388000													9	73					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578779	44578779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44578779C>T	ENST00000289547.4	-	2	1272	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	NPC1L1_ENST00000423141.1_Missense_Mutation_p.R406Q|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R406Q|NPC1L1_ENST00000546276.1_Missense_Mutation_p.R406Q	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	406					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGGTTGGTTCGGAAGAAGGG	0.592000													6	135					0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687921	151687921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151687921G>A	ENST00000325144.4	-	3	420	c.280C>T	c.(280-282)Cga>Tga	p.R94*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGTTCTAATCGAACCGGGTCG	0.537000													8	110					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176966008	176966008	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176966008G>A	ENST00000443375.2	-	3	1570	c.12C>T	c.(10-12)ctC>ctT	p.L4L	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Silent_p.L117L|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	0										kidney(1)|large_intestine(3)	4						GATTCTTGACGAGCTTTGGCA	0.552000													6	75					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431258	140431258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140431258C>T	ENST00000306549.3	+	1	280	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		68	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTGGTTTCCGAGGGCAAC	0.582000													5	56					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545696	179545696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:179545696C>T	ENST00000393371.2	-	9	1292	c.996G>A	c.(994-996)atG>atA	p.M332I	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.M181I|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.M332I			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	332	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGTTGGGTCCATCTGGTGCT	0.662000													10	90					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564691	111564691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:111564691C>T	ENST00000393934.3	+	4	1460	c.890C>T	c.(889-891)cCt>cTt	p.P297L	PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCAGTTTATCCTTTGAGATTC	0.468000													7	48					0	0	1	0	0
FLJ33360	401172	broad.mit.edu	37	5	6337290	6337290	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:6337290C>T	ENST00000507444.1	-	0	115					NR_028351.1																						CGTCTTCTCTCAATGCAGGTG	0.517000													11	92					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059748	34059748	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:34059748G>A	ENST00000374181.3	-	2	817	c.648C>T	c.(646-648)ctC>ctT	p.L216L	GRM4_ENST00000538487.1_Silent_p.L216L|GRM4_ENST00000535756.1_Silent_p.L83L|GRM4_ENST00000455714.2_Silent_p.L76L|GRM4_ENST00000374177.3_Silent_p.L147L|GRM4_ENST00000544773.1_Silent_p.L47L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	216					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGTTCCACTTGAGGGCACGGA	0.617000													5	41					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292991	219292991	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292991C>T	ENST00000248444.5	+	6	586	c.498C>T	c.(496-498)ttC>ttT	p.F166F	VIL1_ENST00000440053.1_Silent_p.F166F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	166	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.F166F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGATGTTTTCCTCCTGGACC	0.547000													5	89					0	0	1	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41285941	41285941	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41285941C>T	ENST00000594136.1	+	2	139	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	MIA-RAB4B_ENST00000600729.1_Silent_p.S130S|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Silent_p.L12L|RAB4B_ENST00000357052.2_Silent_p.L12L																							CTTCAAATTCCTGGTGATTGG	0.473000													15	80					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392759	71392759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:71392759C>T	ENST00000373279.4	+	4	469	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	104						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTTGGTGTTCGTGGCCTCCT	0.587000													7	109					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71002983	71002983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71002983C>T	ENST00000334414.6	-	4	889	c.845G>A	c.(844-846)gGg>gAg	p.G282E	PTPRB_ENST00000261266.5_Missense_Mutation_p.G64E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G64E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G64E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G281E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G282E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G64E|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	64	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAACGCGGCCCCCAGGGTGTC	0.488000													9	39					0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152739783	152739783	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152739783G>A	ENST00000360283.6	-	2	404	c.147C>T	c.(145-147)atC>atT	p.I49I	CACNB4_ENST00000201943.5_Silent_p.I83I|CACNB4_ENST00000539935.1_Silent_p.I83I|CACNB4_ENST00000427385.1_Silent_p.I65I|CACNB4_ENST00000397327.2_Silent_p.I36I|CACNB4_ENST00000534999.1_Silent_p.I49I			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	83					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCTCAAGCTGGATAGCTGCTT	0.517000													9	64					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661130	3661130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:3661130G>A	ENST00000397068.3	-	2	921	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ART5_ENST00000397067.3_Missense_Mutation_p.R177C|ART5_ENST00000359918.4_Missense_Mutation_p.R177C	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)		TGGCCCAAGCGGACAGAGTCT	0.607000													4	51					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222211	50222211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50222211G>A	ENST00000002829.3	+	13	1904	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	SEMA3F_ENST00000434342.1_Missense_Mutation_p.A443T|SEMA3F_ENST00000413852.1_Missense_Mutation_p.A375T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	474	Sema.		A -> G (in dbSNP:rs1046955).		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)		GGTGGATGCAGCCGACGGGCG	0.667000													4	19					0	0	1	0	0
COPRS	55352	broad.mit.edu	37	17	30179858	30179858	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:30179858A>G	ENST00000378634.2	-	3	575	c.322T>C	c.(322-324)Ttg>Ctg	p.L108L	COPRS_ENST00000302362.6_Silent_p.L120L					coordinator of PRMT5, differentiation stimulator																		TCTGCTTTCAACTCCGAGTCC	0.527000													13	116					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72256034	72256034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:72256034G>A	ENST00000305425.4	-	2	1285	c.863C>T	c.(862-864)cCt>cTt	p.P288L	DACH1_ENST00000354591.4_Missense_Mutation_p.P288L|DACH1_ENST00000359684.2_Missense_Mutation_p.P288L|DACH1_ENST00000313174.7_Missense_Mutation_p.P288L	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	286	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGCCTTCCAGGTCTAGAACT	0.403000													11	19					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024932	138024932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138024932C>T	ENST00000383180.2	-	9	604	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	NME9_ENST00000333911.3_Missense_Mutation_p.E184K|NME9_ENST00000317876.4_Missense_Mutation_p.E123K|NME9_ENST00000536478.1_Missense_Mutation_p.E123K|NME9_ENST00000341790.5_Missense_Mutation_p.E121K|NME9_ENST00000484930.1_Missense_Mutation_p.E121K	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	184					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AACCCAGCTTCCTGAATCTGT	0.348000													9	193					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125547733C>T	ENST00000533904.1	-	2	854	c.512G>A	c.(511-513)gGg>gAg	p.G171E	ACRV1_ENST00000426183.1_Missense_Mutation_p.G101E|ACRV1_ENST00000257382.2_Missense_Mutation_p.G116E|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101E|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71E|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000433875.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76E			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542000													10	35					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977170	56977170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56977170C>T	ENST00000439977.2	+	8	1341	c.1144C>T	c.(1144-1146)Ctt>Ttt	p.L382F	HERPUD1_ENST00000379792.2_Missense_Mutation_p.L357F|HERPUD1_ENST00000344114.4_Missense_Mutation_p.L223F|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L381F|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	382						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGCCTCTCTTCTTCCAGAAGG	0.532000			T	ERG	prostate								14	174					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290969	141290969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141290969C>T	ENST00000247452.3	-	3	1152	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	269	MAGE.					cytoplasm|nucleus		p.E269*(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTAGGCTCCCCATAGACG	0.527000										HNSCC(46;0.14)			8	66					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169847945G>A	ENST00000367772.4	-	3	378	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_ENST00000367770.1_Missense_Mutation_p.R61C|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.R61C	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408000													5	107					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150464463	150464463	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150464463G>A	ENST00000361131.4	+	1	252	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	45					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CCTCCCGGGAGGACTCGGCGC	0.711000													8	24					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362666	186362666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:186362666C>T	ENST00000265029.3	+	4	652	c.551C>T	c.(550-552)tCc>tTc	p.S184F	RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000539949.1_Missense_Mutation_p.S36F|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382134.3_Missense_Mutation_p.S119F|FETUB_ENST00000450521.1_Missense_Mutation_p.S184F|FETUB_ENST00000382136.3_Missense_Mutation_p.S147F	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	184	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGAACACATCCAAGCAGTAT	0.498000													4	23					0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21681206	21681206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21681206G>A	ENST00000430246.2	-	5	3387	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	HNRNPC_ENST00000554455.1_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000553753.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000553300.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000449098.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000420743.2_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000336053.6_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000320084.7_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000556897.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000556628.1_Nonsense_Mutation_p.Q79*|HNRNPC_ENST00000556142.1_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000555914.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000556513.1_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000555309.1_Nonsense_Mutation_p.Q159*|HNRNPC_ENST00000554969.1_Nonsense_Mutation_p.Q146*|HNRNPC_ENST00000557201.1_Nonsense_Mutation_p.Q159*			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	159						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GATACACGCTGACGTTTCGAG	0.463000													4	29					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181764	128181764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181764G>A	ENST00000469083.1	-	2	2882	c.325C>T	c.(325-327)Cct>Tct	p.P109S	DNAJB8_ENST00000319153.3_Missense_Mutation_p.P109S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	109					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		AAGGAGAAAGGGTCCAGGCCA	0.612000													4	40					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904461	12904461	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12904461C>T	ENST00000380659.3	+	3	973	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	278					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATAATTCTCCCCTACAGATCC	0.398000													4	32					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45877970	45877970	+	Missense_Mutation	SNP	G	G	A	rs143978950		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45877970G>A	ENST00000374391.2	+	2	243	c.190G>A	c.(190-192)Gag>Aag	p.E64K	ALOX5_ENST00000542434.1_Missense_Mutation_p.E64K	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	64	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGAACTGGGCGAGATCCAGCT	0.557000													7	64					0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	332476	332476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:332476G>A	ENST00000219409.3	+	5	499	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	142					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	p.E142K(1)		breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGTCCACAGGGAGATTGTCAG	0.716000													10	24					0	0	1	0	0
PIGM	93183	broad.mit.edu	37	1	160000969	160000969	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160000969G>A	ENST00000368090.2	-	1	814	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	187					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTATGGGAAGGATGTAAGTCA	0.468000													13	105					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688944	60688944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:60688944G>A	ENST00000335712.6	-	4	1330	c.1103C>T	c.(1102-1104)cCt>cTt	p.P368L	BCL11A_ENST00000356842.4_Missense_Mutation_p.P368L|BCL11A_ENST00000358510.4_Missense_Mutation_p.P334L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.P334L|BCL11A_ENST00000537768.1_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	368	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTGGGAGGGAGGAGGGGCGGA	0.642000			T	IGH@	B-CLL								33	540					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870456	51870456	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:51870456G>A	ENST00000371497.5	+	2	1346	c.459G>A	c.(457-459)agG>agA	p.R153R	TSHZ2_ENST00000603338.2_Silent_p.R150R|TSHZ2_ENST00000329613.6_Silent_p.R150R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	153					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)			GTGAGAGGAGGAACTGTGACA	0.522000													7	62					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62200346	62200346	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62200346G>A	ENST00000467148.1	-	5	1164	c.1095C>T	c.(1093-1095)acC>acT	p.T365T		NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCCCCGCAGGGTCAGCCTGG	0.692000													5	44					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100594173	100594173	+	Missense_Mutation	SNP	G	G	A	rs149692828		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:100594173G>A	ENST00000268070.4	-	16	2329	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	742	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCACATAGCGAACAGTTGTG	0.517000													13	173					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575245	136575245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136575245G>A	ENST00000264162.2	-	6	1383	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	458	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGATCCGGGACCAGGAGAT	0.627000													7	69					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974457	49974457	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:49974457C>T	ENST00000555099.1	+	1	515	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCCTCTTCATCTGTCAATTAC	0.443000													7	34					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65207892	65207892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65207892G>A	ENST00000247226.7	+	14	1797	c.1489G>A	c.(1489-1491)Ggg>Agg	p.G497R	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G58R|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G553R|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G86R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	553					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGGCCTTCTGGGGATGGACCC	0.587000													18	161					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841184	44841184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:44841184G>A	ENST00000270162.6	-	6	695	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	188	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GGCGGCATACGGGGGGCTCCC	0.587000													8	84					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958122	12958122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12958122G>A	ENST00000251472.4	+	5	385	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MAST1_ENST00000591495.1_Missense_Mutation_p.E112K	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	116					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCCTCCCAGGAGCGCCTTCA	0.662000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	62					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50523257	50523257	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50523257G>A	ENST00000311597.5	-	2	681	c.75C>T	c.(73-75)ccC>ccT	p.P25P	MLC1_ENST00000538737.1_Silent_p.P25P|MLC1_ENST00000535444.1_Intron|MLC1_ENST00000450140.2_Silent_p.P25P|MLC1_ENST00000395876.2_Silent_p.P25P|MLC1_ENST00000431262.2_Silent_p.P25P	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	25				P -> H (in Ref. 8; AAH28425).		basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CATAGCTGGCGGGGTCTTGCC	0.647000													9	51					0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85598230C>T	ENST00000315658.7	+	7	641	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_ENST00000409344.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000428955.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409013.3_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000409890.2_Nonsense_Mutation_p.R128*|ELMOD3_ENST00000393852.4_Nonsense_Mutation_p.R128*	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	128					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547000													33	125					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50779269	50779269	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50779269C>T	ENST00000440075.2	+	28	3536	c.3489C>T	c.(3487-3489)gcC>gcT	p.A1163A	MYH14_ENST00000376970.2_Silent_p.A1155A|MYH14_ENST00000598205.1_Silent_p.A1130A|MYH14_ENST00000601313.1_Silent_p.A1163A|MYH14_ENST00000596571.1_Silent_p.A1122A|MYH14_ENST00000425460.1_Silent_p.A1130A|MYH14_ENST00000262269.8_Silent_p.A1163A			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1122					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGGTGGGGCCCGGGCCCAGC	0.652000													4	25					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38985036	38985036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38985036C>T	ENST00000355481.4	+	39	6450	c.6319C>T	c.(6319-6321)Caa>Taa	p.Q2107*	RYR1_ENST00000359596.3_Nonsense_Mutation_p.Q2107*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.Q2107*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2107	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGCTGGGCCCAAGAGGACTT	0.672000													9	29					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646358	19646358	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19646358C>T	ENST00000555938.1	+	7	573	c.561C>T	c.(559-561)gcC>gcT	p.A187A	YJEFN3_ENST00000514277.3_Silent_p.A188A|YJEFN3_ENST00000436027.4_Silent_p.A138A																							TTAACGAAGCCTATGGGCTGG	0.697000													5	26					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509910	41509910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41509910G>A	ENST00000324071.4	+	2	183	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.R19Q|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	59					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TGGCAGTTCCGAGAGAAATAT	0.507000													6	36					0	0	1	0	0
TSPY2	64591	broad.mit.edu	37	Y	6114350	6114350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:6114350G>A	ENST00000320701.4	+	1	87	c.41G>A	c.(40-42)aGg>aAg	p.R14K	TSPY2_ENST00000383042.1_Missense_Mutation_p.R14K	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	14					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GTGCCAGAGAGGCTGCGGCAG	0.716000													7	30					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31985558	31985558	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31985558C>T	ENST00000432498.1	+	14	1839	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	SFI1_ENST00000414585.1_Silent_p.F360F|SFI1_ENST00000400289.1_Silent_p.F431F|SFI1_ENST00000400288.2_Silent_p.F513F|SFI1_ENST00000540643.1_Silent_p.F458F|SFI1_ENST00000443326.1_Silent_p.F431F|SFI1_ENST00000443011.1_Silent_p.F360F	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	513	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAACACGTTTCCACAGGTATG	0.537000													7	66					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290128	57290128	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57290128C>T	ENST00000543872.2	+	4	2208	c.1944C>T	c.(1942-1944)atC>atT	p.I648I	SMG8_ENST00000300917.5_Silent_p.I648I|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	648					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGATCATATCAATTTCCCAG	0.343000													22	203					0	0	1	0	0
ARL9	132946	broad.mit.edu	37	4	57377506	57377506	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:57377506C>T	ENST00000360096.2	+	2	323	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	67							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					AGATGGAGTTCCTGGAGAGTA	0.443000													4	63					0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70154551	70154551	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70154551C>T	ENST00000288050.4	+	3	1113	c.156C>T	c.(154-156)atC>atT	p.I52I	PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Silent_p.I52I	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	52					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAGGTGGAATCACGGGCACTT	0.572000													6	60					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756878	71756878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756878G>A	ENST00000318442.5	-	2	936	c.446C>T	c.(445-447)cCc>cTc	p.P149L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CTGCTTGACGGGCTTGCCCCC	0.627000													11	120					0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227232	28227232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:28227232C>T	ENST00000343684.3	+	1	135	c.83C>T	c.(82-84)cCa>cTa	p.P28L		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	28										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GGGAGCCCACCATCCCCGCAG	0.662000													5	50					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610138	95610138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:95610138C>T	ENST00000395505.2	-	3	915	c.823G>A	c.(823-825)Gat>Aat	p.D275N	ZNF484_ENST00000375495.3_Missense_Mutation_p.D311N|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.D313N|ZNF484_ENST00000332591.6_Missense_Mutation_p.D275N	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGGGAAAAATCCTTCTCATAT	0.433000													11	38					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96212846	96212846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:96212846C>T	ENST00000324765.8	+	16	1981	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	DIAPH2_ENST00000373061.3_Missense_Mutation_p.S545L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.S545L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.S541L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.S545L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	545	Poly-Ser.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTCTCAAGTTCATCAGGAATT	0.433000													3	7					0	0	1	0	0
RBM18	92400	broad.mit.edu	37	9	125004171	125004171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125004171G>A	ENST00000417201.3	-	6	705	c.565C>T	c.(565-567)Cga>Tga	p.R189*	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	189							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						CATCATCTTCGAGATTTCCAT	0.403000													5	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665314	179665314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179665314G>A	ENST00000589042.1	-	4	615	c.391C>T	c.(391-393)Cct>Tct	p.P131S	TTN_ENST00000591111.1_Missense_Mutation_p.P131S|TTN_ENST00000359218.5_Missense_Mutation_p.P131S|TTN_ENST00000360870.5_Missense_Mutation_p.P131S|TTN_ENST00000342992.6_Missense_Mutation_p.P131S|TTN_ENST00000460472.2_Missense_Mutation_p.P131S|TTN_ENST00000342175.6_Missense_Mutation_p.P131S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	131	Ig-like 2.						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)			ACAGGTGTAGGGATTCCAGTC	0.517000													10	76					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088167	86088167	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:86088167C>T	ENST00000330753.4	+	2	1076	c.309C>T	c.(307-309)ttC>ttT	p.F103F	FLRT2_ENST00000554746.1_Silent_p.F103F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	103					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGACGAATTCCCCATGAACC	0.463000													9	67					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228363073	228363073	+	Silent	SNP	C	C	T	rs142734560	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228363073C>T	ENST00000366711.3	+	3	932	c.930C>T	c.(928-930)ttC>ttT	p.F310F	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Silent_p.F117F	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	310					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						TGGGCAAGTTCAGGGCTGGCC	0.637000													18	52					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7171637	7171637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7171637G>A	ENST00000406697.1	+	8	1086	c.458G>A	c.(457-459)gGt>gAt	p.G153D	C1S_ENST00000360817.5_Missense_Mutation_p.G153D|C1S_ENST00000328916.3_Missense_Mutation_p.G153D|C1S_ENST00000402681.3_5'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	153	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCATTGGTGGTTACTTCTGC	0.448000													5	92					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811546	156811546	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156811546G>A	ENST00000368195.3	-	20	3834	c.3438C>T	c.(3436-3438)taC>taT	p.Y1146Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1146	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCCTTGCGGTAATAGTCTG	0.612000													8	111					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877065	151877065	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151877065G>A	ENST00000355193.2	-	37	7514	c.7296C>T	c.(7294-7296)ttC>ttT	p.F2432F	KMT2C_ENST00000262189.6_Silent_p.F2432F					lysine (K)-specific methyltransferase 2C																		GGGGTCTGGTGAAAGCCTGGT	0.542000													10	54					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561597	65561597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65561597C>T	ENST00000335987.3	+	2	548	c.196C>T	c.(196-198)Cga>Tga	p.R66*	OVOL1_ENST00000532448.1_Nonsense_Mutation_p.R4*	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	66					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CATGAGCCTTCGAGACTCTAG	0.652000													19	124					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872921	57872921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57872921G>A	ENST00000393797.2	-	5	674	c.482C>T	c.(481-483)tCc>tTc	p.S161F	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S169F|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.S90F|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S90F|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S90F			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	90					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGGACTCTGGGAAGGGATGGA	0.567000													10	106					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103926	53103926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53103926G>A	ENST00000408890.4	+	1	578	c.562G>A	c.(562-564)Gga>Aga	p.G188R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GTGCCCCAAGGGAAGCGCTAG	0.711000													10	67					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702255	88702255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88702255C>T	ENST00000372027.4	-	6	2359	c.2286G>A	c.(2284-2286)atG>atA	p.M762I		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	762						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGTTGGCTTCCATGAGCCCTT	0.602000													9	105					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30642717	30642717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30642717C>T	ENST00000389266.3	+	5	878	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	213					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGAATGTTTTCGTGCTGACCA	0.353000													6	46					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376289	200376289	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200376289A>T	ENST00000294740.2	-	2	2669	c.2545T>A	c.(2545-2547)Ttt>Att	p.F849I	ZNF281_ENST00000367353.1_Missense_Mutation_p.F849I|ZNF281_ENST00000367352.3_Missense_Mutation_p.F813I	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	849					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTAGTGATAAAGGTCATTGGC	0.428000													6	91					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089417	9089417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089417C>T	ENST00000397910.4	-	1	2601	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	800	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTCTCTTCCCCTGATGGA	0.512000													7	107					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65622733	65622733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65622733G>A	ENST00000327987.4	-	11	2007	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	586	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGCAGTGGGGTCTGGAGGA	0.607000													5	99					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398588	89398588	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89398588G>A	ENST00000439576.2	+	12	3146	c.2772G>A	c.(2770-2772)gaG>gaA	p.E924E	ACAN_ENST00000559004.1_Silent_p.E924E|ACAN_ENST00000352105.7_Silent_p.E924E|ACAN_ENST00000561243.1_Silent_p.E924E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	924					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGATGAAGAGAGAATTGAGT	0.577000													5	30					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223931832	223931832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223931832C>T	ENST00000295006.5	+	3	647	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CAPN2_ENST00000433674.2_Missense_Mutation_p.S35F	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	113	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCCATTGCCTCCCTCACCTTG	0.493000													7	111					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43287194	43287194	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43287194T>G	ENST00000374518.4	+	6	819	c.756T>G	c.(754-756)tcT>tcG	p.S252S		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	252					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCAAACTTCTCACCCTTATA	0.373000													7	118					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599089	6599089	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6599089G>A	ENST00000433363.2	-	7	1244	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	SLC13A5_ENST00000381074.4_Silent_p.F294F|SLC13A5_ENST00000573648.1_Silent_p.F337F|SLC13A5_ENST00000293800.6_Silent_p.F320F	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	337						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AGCCGGGCATGAAGCCGGGGT	0.582000													8	137					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390934	197390934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390934C>T	ENST00000367397.1	+	2	977	c.119C>T	c.(118-120)tCg>tTg	p.S40L	CRB1_ENST00000367399.2_Missense_Mutation_p.S547L|CRB1_ENST00000535699.1_Missense_Mutation_p.S590L|CRB1_ENST00000538660.1_Missense_Mutation_p.S659L|CRB1_ENST00000367400.3_Missense_Mutation_p.S659L|CRB1_ENST00000543483.1_Missense_Mutation_p.R289C|CRB1_ENST00000544212.1_Missense_Mutation_p.S140L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	659	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAGAACATCTCGTCTGGCTCA	0.448000													7	49					0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1291460	1291460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1291460C>T	ENST00000360779.3	-	8	981	c.808G>A	c.(808-810)Gag>Aag	p.E270K	SDCBP2_ENST00000381808.3_Missense_Mutation_p.E185K|SDCBP2_ENST00000339987.3_Missense_Mutation_p.E270K|SDCBP2_ENST00000467129.1_5'UTR|SDCBP2_ENST00000381812.1_Missense_Mutation_p.E270K	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	270					intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						ACCATGTGCTCGTAGATCACA	0.582000													4	63					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30189431	30189431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30189431C>T	ENST00000397771.2	-	18	2014	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	ASCC2_ENST00000542393.1_Missense_Mutation_p.E537K|ASCC2_ENST00000307790.3_Missense_Mutation_p.E613K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TACTCATCCTCGTAGTAGACA	0.602000													5	37					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179188	55179188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55179188G>A	ENST00000391736.1	+	13	1459	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Missense_Mutation_p.E382K|LILRB4_ENST00000391733.3_Missense_Mutation_p.E383K|LILRB4_ENST00000430952.2_Missense_Mutation_p.E381K	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	382						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGTCTGGGGAATTCCTGGA	0.592000													4	24					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27024690	27024690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27024690C>T	ENST00000314616.6	+	31	4545	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1421F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1421	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCATGGCATCCTTTGCCCGG	0.522000													5	61					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124672371	124672371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124672371G>A	ENST00000368894.1	+	3	340	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	73						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CCACCACCATGGAGTCTTGTC	0.512000													6	23					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31017746	31017746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31017746C>T	ENST00000375687.4	+	8	1032	c.608C>T	c.(607-609)tCc>tTc	p.S203F	ASXL1_ENST00000306058.5_Missense_Mutation_p.S198F	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	203	Poly-Ser.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCAGCCCGTCCAGCAGCAGC	0.667000			"""F, N, Mis"""		"""MDS, CMML"""								15	43					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86018296	86018296	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86018296G>A	ENST00000359452.4	+	7	827	c.789G>A	c.(787-789)acG>acA	p.T263T	RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Silent_p.T221T	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	259					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGTGCCCACGATCAATGCCA	0.542000													8	66					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618423	122618423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122618423C>T	ENST00000319080.6	+	9	1753	c.1621C>T	c.(1621-1623)Ccc>Tcc	p.P541S	MLXIP_ENST00000538698.1_Missense_Mutation_p.P148S|MLXIP_ENST00000377037.2_Missense_Mutation_p.P131S			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTTTGTGCACCCCAAACCTGT	0.607000													3	13					0	0	1	0	0
CUBNP3	100421634	broad.mit.edu	37	10	45642860	45642860	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45642860G>A	ENST00000427229.2	+	0	19																											CACCTCCTAGGAAATATGCAG	0.428000													4	9					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755549	91755549	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91755549G>A	ENST00000389857.6	-	25	4427	c.4341C>T	c.(4339-4341)gcC>gcT	p.A1447A		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1447					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGCTGAGAGGCCGCCGGCG	0.632000													10	124					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839649	15839649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15839649C>T	ENST00000305899.3	+	1	816	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCCAAAGGTCCCCACTCTCA	0.547000													18	63					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562578	22562578	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:22562578C>T	ENST00000419308.2	-	2	1486	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	FOXA2_ENST00000377115.4_Silent_p.T428T|FOXA2_ENST00000319993.4_Silent_p.T434T	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	428	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.T428T(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCGTTTTGTTCGTGACCGGGC	0.607000													15	117					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35833970	35833970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:35833970G>A	ENST00000187397.4	+	19	2585	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.G691E|ARPP21_ENST00000444190.1_Missense_Mutation_p.G691E|ARPP21_ENST00000458225.1_Missense_Mutation_p.G711E|ARPP21_ENST00000417925.1_Missense_Mutation_p.G711E	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	710	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCAACAAGGAACTCCGGTG	0.463000													6	19					0	0	1	0	0
IGHV1-8	28472	broad.mit.edu	37	14	106539229	106539229	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106539229C>T	ENST00000390599.2	-	0	262																											TCATCCATCCCATCCACTCAA	0.532000													7	41					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45182151	45182151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45182151C>T	ENST00000358777.4	+	4	1082	c.602C>T	c.(601-603)tCt>tTt	p.S201F	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S201F|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	201						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ggccagggatctctgtccatc	0.483000													65	483					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145005749	145005749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145005749G>A	ENST00000322810.4	-	19	2837	c.2668C>T	c.(2668-2670)Cgc>Tgc	p.R890C	PLEC_ENST00000527096.1_Missense_Mutation_p.R776C|PLEC_ENST00000398774.2_Missense_Mutation_p.R721C|PLEC_ENST00000354589.3_Missense_Mutation_p.R753C|PLEC_ENST00000354958.2_Missense_Mutation_p.R731C|PLEC_ENST00000356346.3_Missense_Mutation_p.R739C|PLEC_ENST00000357649.2_Missense_Mutation_p.R757C|PLEC_ENST00000345136.3_Missense_Mutation_p.R753C|PLEC_ENST00000436759.2_Missense_Mutation_p.R780C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	890	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGGCGGAGCGATCACAACTG	0.662000													4	12					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356376	34356376	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34356376C>T	ENST00000383263.5	+	3	2128	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	CHRM5_ENST00000557872.1_Silent_p.V486V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	486					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TGTGCTATGTCAATAGCACTG	0.483000													5	90					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767531	88767531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88767531C>T	ENST00000497649.2	+	6	1817	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	MEPE_ENST00000540395.1_Missense_Mutation_p.S391F|MEPE_ENST00000395102.4_Missense_Mutation_p.S535F|MEPE_ENST00000560249.1_Missense_Mutation_p.S391F|MEPE_ENST00000361056.3_Missense_Mutation_p.S504F|MEPE_ENST00000424957.3_Missense_Mutation_p.S504F|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	504					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGGTTTAGTTCCCGTAGAAGG	0.507000													7	42					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355095	103355095	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103355095C>T	ENST00000358392.2	-	59	4733	c.4416G>A	c.(4414-4416)ctG>ctA	p.L1472L	COL11A1_ENST00000353414.4_Silent_p.L1421L|COL11A1_ENST00000512756.1_Silent_p.L1344L|COL11A1_ENST00000370096.3_Silent_p.L1460L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1460	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GAGGACCAATCAGGCCAATTA	0.398000													5	18					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368576	40368576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40368576C>T	ENST00000221347.6	-	28	12779	c.12772G>A	c.(12772-12774)Gaa>Aaa	p.E4258K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4258	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCGACATTCGTCCCAACAC	0.647000													10	68					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97052718	97052718	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:97052718G>A	ENST00000326771.2	+	4	632	c.252G>A	c.(250-252)aaG>aaA	p.K84K	FHL5_ENST00000541107.1_Silent_p.K84K	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	84	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TTGCTGCCAAGGATGAGCGCC	0.517000													4	35					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159783291	159783291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159783291C>T	ENST00000321935.6	+	8	1129	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	FCRL6_ENST00000392235.3_Missense_Mutation_p.S246F|FCRL6_ENST00000368106.3_Missense_Mutation_p.S341F|FCRL6_ENST00000339348.5_Missense_Mutation_p.S341F			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	341						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCCCTTCCATCCCAGATACCA	0.562000													9	58					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48066818	48066818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:48066818G>A	ENST00000403359.3	-	2	395	c.323C>T	c.(322-324)cCg>cTg	p.P108L	FBXO11_ENST00000402508.1_Missense_Mutation_p.P24L|FBXO11_ENST00000378314.3_5'UTR|FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.P24L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	108					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTCTTTTCGGCAAAAGAGT	0.373000			"""Mis, F, D"""		DLBCL								16	47					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166232670	166232670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166232670C>T	ENST00000226725.6	+	11	1551	c.1292C>T	c.(1291-1293)gCt>gTt	p.A431V	KLHL2_ENST00000514860.1_Missense_Mutation_p.A435V|KLHL2_ENST00000538127.1_Missense_Mutation_p.A343V|KLHL2_ENST00000506761.1_Missense_Mutation_p.A265V|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.A334V	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	431					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTTCATGTAGCTCCCATGAAT	0.403000													9	76					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25897557	25897557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25897557C>T	ENST00000520164.1	-	5	1006	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	EBF2_ENST00000408929.3_Missense_Mutation_p.E9K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	157					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACATCACTTCGTGCGTCAGG	0.587000													24	122					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706682	26706682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26706682G>A	ENST00000529632.2	+	7	1757	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	SEZ6L_ENST00000403121.1_Missense_Mutation_p.D294N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D521N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D521N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D521N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D521N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D294N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	521	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTTCTCTACGACTCCCTTCA	0.602000													7	85					0	0	1	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101100	27101100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27101100C>T	ENST00000359193.2	+	1	269	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	84					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						CCCGCGTCATCTCCAACTGGC	0.622000													8	85					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72295921	72295921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72295921C>T	ENST00000334456.5	-	17	1599	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PDE2A_ENST00000444035.2_Missense_Mutation_p.D443N|PDE2A_ENST00000418754.2_Missense_Mutation_p.D337N|PDE2A_ENST00000540345.1_Missense_Mutation_p.D443N|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.D445N|PDE2A_ENST00000376450.3_Missense_Mutation_p.D196N	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	452	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTCACCTCATCATCCACCACG	0.647000													17	173					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898851	37898851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37898851C>T	ENST00000309156.4	+	3	445	c.188C>T	c.(187-189)tCc>tTc	p.S63F	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.S86F|GRB7_ENST00000394204.1_Missense_Mutation_p.S63F|GRB7_ENST00000394209.2_Missense_Mutation_p.S63F|GRB7_ENST00000394211.3_Missense_Mutation_p.S63F|GRB7_ENST00000309185.3_Missense_Mutation_p.S63F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGCCACCTCCCTCCCCTCT	0.622000													11	130					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109691019	109691019	+	Missense_Mutation	SNP	C	C	T	rs149337252		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:109691019C>T	ENST00000277225.5	+	3	5115	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	ZNF462_ENST00000457913.1_Missense_Mutation_p.S1609F|ZNF462_ENST00000441147.2_Missense_Mutation_p.S454F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1609					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GATGTCTTTTCCCAGTCGCCC	0.542000													4	60					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493710	38493710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38493710G>A	ENST00000263409.4	-	14	2225	c.2063C>T	c.(2062-2064)tCt>tTt	p.S688F	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.S688F	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	688	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CATCTTACCAGATTCTATTAC	0.408000			T	PLAG1	salivary adenoma								9	51					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141245	25141245	+	Silent	SNP	G	G	A	rs79278464		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:25141245G>A	ENST00000260600.5	-	1	1463	c.612C>T	c.(610-612)gtC>gtT	p.V204V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	204					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGACCCCCAGGACCAACGTGT	0.632000													18	46					0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038389	22038389	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22038389G>A	ENST00000303532.1	-	1	486	c.487C>T	c.(487-489)Cta>Tta	p.L163L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CGGAAGGTTAGGATGGCCTGG	0.582000													5	76					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336235	127336235	+	Silent	SNP	C	C	T	rs141735401		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127336235C>T	ENST00000265056.7	+	11	2131	c.1887C>T	c.(1885-1887)gcC>gcT	p.A629A		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	629	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCATTGCTGCCGCCAACCCCA	0.642000													3	15					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47249068	47249068	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47249068G>T	ENST00000396220.1	-	34	4399	c.4377C>A	c.(4375-4377)gcC>gcA	p.A1459A	PREX1_ENST00000371941.3_Silent_p.A1459A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1459					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCTCAGGCTGGCCCCACCCT	0.652000													11	40					3.07112e-06	3.11694e-06	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919295	130919295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130919295G>A	ENST00000261655.4	-	11	2349	c.2186C>T	c.(2185-2187)tCt>tTt	p.S729F	RIMBP2_ENST00000536002.1_Missense_Mutation_p.S637F|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S637F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	729						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCAAGTTCAGAGCCTTTCAG	0.667000													7	130					0	0	1	0	0
RELL1	768211	broad.mit.edu	37	4	37651040	37651040	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:37651040T>A	ENST00000454158.2	-	2	259	c.171A>T	c.(169-171)gaA>gaT	p.E57D	RELL1_ENST00000314117.4_Missense_Mutation_p.E57D	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	57						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						ATGCAATATATTCTGGGTGTC	0.498000													15	119					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922545	43922545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43922545C>T	ENST00000602198.1	+	8	1242	c.800C>T	c.(799-801)tCc>tTc	p.S267F	TEX101_ENST00000253435.7_Missense_Mutation_p.S267F|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.S249F	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	249						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTCACTTTTCCTAAGAAGGC	0.483000													15	59					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58098016	58098016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58098016C>T	ENST00000357272.4	+	18	2881	c.2716C>T	c.(2716-2718)Cac>Tac	p.H906Y	FLNB_ENST00000348383.5_Missense_Mutation_p.H906Y|FLNB_ENST00000490882.1_Missense_Mutation_p.H906Y|FLNB_ENST00000493452.1_Missense_Mutation_p.H737Y|FLNB_ENST00000295956.4_Missense_Mutation_p.H906Y|FLNB_ENST00000419752.2_Missense_Mutation_p.H737Y|FLNB_ENST00000358537.3_Missense_Mutation_p.H906Y|FLNB_ENST00000429972.2_Missense_Mutation_p.H906Y			O75369	FLNB_HUMAN	filamin B, beta	906					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGACTACTCTCACACGGTTAA	0.557000													10	86					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119751998	119751998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:119751998C>T	ENST00000541757.1	+	18	1611	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MARCO_ENST00000327097.4_Missense_Mutation_p.R489W			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	489	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGTTCAGTGTCGGGGCACGGA	0.552000													5	51					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8979244	8979244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8979244C>T	ENST00000397910.4	-	71	42330	c.42127G>A	c.(42127-42129)Gaa>Aaa	p.E14043K	MUC16_ENST00000380951.5_Missense_Mutation_p.E684K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14068	SEA 13.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCAGGTTCATTGTAACCT	0.488000													5	34					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140285	40140285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40140285G>A	ENST00000325157.6	-	7	1473	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	408										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGAAGCAGTTGAAACTAAAAT	0.358000													4	18					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864179	31864179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31864179G>A	ENST00000334063.4	-	1	96	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCCAGTCTGCGGAAGCTGCCA	0.582000													12	134					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569339	127569339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127569339G>A	ENST00000284690.3	-	1	545	c.55C>T	c.(55-57)Cct>Tct	p.P19S	DHX32_ENST00000284688.6_Missense_Mutation_p.P19S	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	19						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGGGATTCAGGAAAATAGCGT	0.468000													6	62					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222521	140222521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140222521G>A	ENST00000531613.1	+	1	1615	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.D539N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGCGCGCGACGCGGGCGT	0.672000													10	137					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68177503	68177503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68177503G>A	ENST00000294304.7	+	10	2319	c.2213G>A	c.(2212-2214)gGg>gAg	p.G738E		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	738	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGACACTGGGACCAACAGA	0.637000													8	68					0	0	1	0	0
SIAH3	283514	broad.mit.edu	37	13	46425736	46425736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:46425736G>A	ENST00000400405.2	-	1	135	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	10					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCTAATACAGCCCCAAAGCA	0.537000													5	37					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39934281	39934281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39934281G>A	ENST00000281961.2	+	3	663	c.607G>A	c.(607-609)Gag>Aag	p.E203K	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CTTCTGGGAGGAGAGCTTGAC	0.567000													4	35					0	0	1	0	0
SP3	6670	broad.mit.edu	37	2	174820667	174820667	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174820667A>G	ENST00000310015.6	-	4	1103	c.573T>C	c.(571-573)tcT>tcC	p.S191S	SP3_ENST00000418194.2_Silent_p.S123S|SP3_ENST00000455789.2_Silent_p.S138S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	191	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CATTATCTGAAGAGCCTGTGA	0.423000													29	137					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150613	247150613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247150613G>A	ENST00000339986.7	-	4	1351	c.1204C>T	c.(1204-1206)Cat>Tat	p.H402Y	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	402					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCCAGTATGAATTCTCTTA	0.388000													5	27					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180151425	180151425	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180151425C>T	ENST00000367602.3	+	6	797	c.723C>T	c.(721-723)ttC>ttT	p.F241F	QSOX1_ENST00000367600.5_Silent_p.F241F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	241					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTGTTCCGGAATGGCT	0.607000													34	155					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177913747	177913747	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:177913747G>A	ENST00000308284.6	-	15	1919	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	610					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GACAGTACTCGAAGATTTCCG	0.493000													14	144					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349472	90349472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90349472C>T	ENST00000300060.6	-	2	656	c.343G>A	c.(343-345)Gag>Aag	p.E115K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	115	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TCAGTGGCCTCCTTGCAGGTG	0.612000													6	49					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988171	61988171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61988171G>A	ENST00000392824.4	-	2	185	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000309894.5_Nonsense_Mutation_p.Q42*|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	42						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CGATGGGCTTGGAGCATAGCC	0.572000													8	139					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706395	96706395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:96706395G>A	ENST00000389672.5	+	3	710	c.672G>A	c.(670-672)atG>atA	p.M224I	EPHA6_ENST00000470610.2_Missense_Mutation_p.M224I|EPHA6_ENST00000542517.1_Missense_Mutation_p.M130I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	129						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTTTTATATGGAATCAGATG	0.388000													4	40					0	0	1	0	0
MLLT11	10962	broad.mit.edu	37	1	151039782	151039782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151039782G>A	ENST00000368921.3	+	2	2884	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CDC42SE1_ENST00000439374.2_5'UTR	NM_006818.3	NP_006809.1	Q13015	AF1Q_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11	28					positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent					upper_aerodigestive_tract(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCGGAGCTGGAAGGCCTGGG	0.522000													6	76					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786609	67786609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67786609C>T	ENST00000422365.2	+	3	314	c.143C>T	c.(142-144)cCc>cTc	p.P48L	MCMDC2_ENST00000313616.5_Missense_Mutation_p.P48L|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Intron|MCMDC2_ENST00000492775.1_Missense_Mutation_p.P48L|MCMDC2_ENST00000396592.3_Missense_Mutation_p.P48L	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	48					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTAATAAATCCCTCTGATGTT	0.308000													4	37					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938602	2938602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2938602G>A	ENST00000378404.2	+	1	557	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	118						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAACCCCAGGGAGAACCGTGA	0.607000													4	72					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926524	22926524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:22926524C>T	ENST00000261374.3	+	2	1179	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	249						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GAACGCCATCCGCATCGGCAT	0.617000													7	101					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594866	64594866	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64594866C>A	ENST00000342711.5	-	33	4154	c.4155G>T	c.(4153-4155)aaG>aaT	p.K1385N		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1385					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGAACTCGTCCTTCTCTGTGG	0.637000													17	113					1.96292e-10	1.99732e-10	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143093438	143093438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143093438G>A	ENST00000367603.2	-	5	3180	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S813L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S813L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTTTCAAATGAATTGGGTCG	0.498000													7	52					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331756	28331756	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28331756C>T	ENST00000341901.4	+	4	1578	c.789C>T	c.(787-789)ttC>ttT	p.F263F		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	263	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ACGCCTTCTTCGAGGAGTTCG	0.711000													5	39					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76117646	76117646	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76117646G>A	ENST00000590602.1	-	11	1533	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	TMC6_ENST00000589553.1_Silent_p.F231F|TMC6_ENST00000322914.3_Silent_p.F458F|TMC6_ENST00000591436.1_Silent_p.F97F|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000392467.3_Silent_p.F458F|TMC6_ENST00000322933.4_Silent_p.F97F|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	458						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCTGGATCATGAACTCCGAGA	0.701000													10	40					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79462079	79462079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79462079C>T	ENST00000264895.6	+	74	12280	c.11840C>T	c.(11839-11841)cCt>cTt	p.P3947L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3942					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						GAAGAATATCCTCTGAATACC	0.478000													8	46					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55241649	55241649	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55241649C>A	ENST00000275493.2	+	18	2274	c.2097C>A	c.(2095-2097)ccC>ccA	p.P699P	EGFR_ENST00000455089.1_Silent_p.P654P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.P646P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	699	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGAAGCTCCCAACCAAGCTC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5	124					0.217242	0.218435	1	1	0
PRB2	653247	broad.mit.edu	37	12	11546281	11546281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11546281C>T	ENST00000389362.4	-	3	766	c.731G>A	c.(730-732)gGa>gAa	p.G244E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGGGGTGGTCCTTGTGGCTT	0.602000													16	181					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216680389	216680389	+	Silent	SNP	G	G	A	rs111905976		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216680389G>A	ENST00000391890.3	-	9	1738	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	ESRRG_ENST00000361525.3_Silent_p.L400L|ESRRG_ENST00000361395.2_Silent_p.L400L|ESRRG_ENST00000463665.1_Silent_p.L361L|ESRRG_ENST00000493748.1_Silent_p.L400L|ESRRG_ENST00000366938.2_Silent_p.L400L|ESRRG_ENST00000359162.2_Silent_p.L400L|ESRRG_ENST00000487276.1_Silent_p.L400L|ESRRG_ENST00000366940.2_Silent_p.L400L|ESRRG_ENST00000493603.1_Silent_p.L400L|ESRRG_ENST00000366937.1_Silent_p.L435L|ESRRG_ENST00000408911.3_Silent_p.L423L|ESRRG_ENST00000360012.3_Silent_p.L400L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	423					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCTGCCTCAGGAGTGGCAGTG	0.498000													8	33					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65214781	65214781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65214781G>A	ENST00000358691.5	-	4	306	c.140C>T	c.(139-141)cCt>cTt	p.P47L	HELZ_ENST00000580168.1_Missense_Mutation_p.P47L|HELZ_ENST00000580662.1_5'UTR	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAATGGACAAGGCCCTGTGAA	0.458000													24	86					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291239	141291239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141291239G>A	ENST00000247452.3	-	3	882	c.535C>T	c.(535-537)Cct>Tct	p.P179S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	179	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGTATCACAGGAAAGTAATCT	0.483000										HNSCC(46;0.14)			28	78					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204950	42204950	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42204950C>T	ENST00000373100.1	+	12	1240	c.780C>T	c.(778-780)gcC>gcT	p.A260A	SGK2_ENST00000426287.1_Silent_p.A286A|SGK2_ENST00000373077.1_Silent_p.A259A|SGK2_ENST00000373092.3_Silent_p.A260A|SGK2_ENST00000423407.3_Silent_p.A260A|SGK2_ENST00000341458.4_Silent_p.A320A			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	320	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)			GGACAGTGGCCGCCTGTGACC	0.607000													5	72					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553626	39553626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39553626C>T	ENST00000251645.2	-	1	218	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	56	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GTCTCCTTCTCGCTACCATTG	0.627000													20	96					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151509334	151509334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151509334G>A	ENST00000535741.1	-	40	6669	c.6196C>T	c.(6196-6198)Cct>Tct	p.P2066S	LRBA_ENST00000357115.3_Missense_Mutation_p.P2077S|LRBA_ENST00000510413.1_Missense_Mutation_p.P2066S|LRBA_ENST00000507224.1_Missense_Mutation_p.P2066S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2077						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGCTAACAGGACCTGCCAAA	0.433000													5	20					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418357	8418357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:8418357G>A	ENST00000337907.3	-	21	4872	c.4238C>T	c.(4237-4239)cCc>cTc	p.P1413L	RERE_ENST00000377464.1_Missense_Mutation_p.P1145L|RERE_ENST00000476556.1_Missense_Mutation_p.P859L|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1413L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1413					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCGGGCCAGGGGATCGCTGGT	0.652000													10	35					0	0	1	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104628	26104628	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26104628C>T	ENST00000374332.4	+	9	1620	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	MAN1C1_ENST00000374329.1_Silent_p.P201P|MAN1C1_ENST00000263979.3_Silent_p.P250P	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	430					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATGTCTCTCCCGGGGGGCTGA	0.642000													10	56					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457803	5457803	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5457803C>T	ENST00000296564.7	+	12	1272	c.1050C>T	c.(1048-1050)ccC>ccT	p.P350P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	350	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCCCTCGCCCCCTCCGATGT	0.448000													24	173					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72532279	72532279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72532279C>T	ENST00000299290.1	-	10	1350	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CCTGGTTTTTCGCTTTTTGTA	0.488000													5	59					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997066	28997066	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28997066G>A	ENST00000322982.3	-	0	868							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTAGCTGGGCGAAGGCGTTCT	0.662000													8	91					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99808772	99808772	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99808772A>T	ENST00000426455.1	+	30	3784	c.3377A>T	c.(3376-3378)gAg>gTg	p.E1126V	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E1126V|STAG3_ENST00000394018.2_Missense_Mutation_p.E1068V|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1126					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAGAGATGGAGGAAGAAGAT	0.577000													5	49					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133119369	133119369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133119369G>A	ENST00000302334.2	+	1	531	c.442G>A	c.(442-444)Gga>Aga	p.G148R		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	148	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CACACGCTCGGGAAACTGGGG	0.612000													3	15					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30791781	30791781	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30791781C>T	ENST00000458257.1	+	1	29	c.15C>T	c.(13-15)ttC>ttT	p.F5F	INMT_ENST00000409539.1_Silent_p.F5F|INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Silent_p.F5F																							AGGGTGGCTTCACTGGGGGTG	0.582000													7	128					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795158	109795158	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109795158C>T	ENST00000271332.3	+	1	2518	c.2457C>T	c.(2455-2457)tcC>tcT	p.S819S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	819	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCGAGACTCCTACCAGGGCA	0.547000													28	503					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76112819	76112819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:76112819G>A	ENST00000556856.1	+	3	346	c.272G>A	c.(271-273)gGa>gAa	p.G91E	FLVCR2_ENST00000555027.1_3'UTR|FLVCR2_ENST00000238667.4_3'UTR|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_3'UTR			Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	0					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCTCTGAGAGGAAGGTGGTGA	0.517000													3	18					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756685	94756685	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94756685G>A	ENST00000554723.1	-	2	784	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SERPINA10_ENST00000393096.1_Silent_p.F82F|SERPINA10_ENST00000554173.1_Silent_p.F82F|SERPINA10_ENST00000261994.4_Silent_p.F82F			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	82					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGCTGAATCCGAAGTTTGAAG	0.562000													6	31					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175066614	175066614	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175066614C>T	ENST00000239462.4	+	8	1763	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	550	Fibronectin type-III 4.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCACCATCTCCTGGGACCCGG	0.532000													5	41					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30576621	30576621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30576621G>A	ENST00000376511.2	-	5	817	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	89	Interaction with TOX4 (By similarity).|TFIIS N-terminal.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGGAGGAGGGGAATGTTGTTG	0.448000													5	46					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487411	36487411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36487411C>T	ENST00000342292.4	-	11	2061	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	681						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTTCAGCTCGTCCTGTGGG	0.587000													8	36					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475768	27475768	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27475768A>G	ENST00000356183.4	-	34	5760	c.5745T>C	c.(5743-5745)gcT>gcC	p.A1915A	GTF3C1_ENST00000561623.1_Silent_p.A1915A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1915						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCTTCAAGAGCTGGGGGTG	0.652000													14	125					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756538	124756538	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124756538G>A	ENST00000306534.3	-	16	3101	c.2616C>T	c.(2614-2616)tcC>tcT	p.S872S	ROBO4_ENST00000533054.1_Silent_p.S727S|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	872					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CATTGGCTAAGGAGCCCTCGC	0.667000													7	25					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33427661	33427661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33427661C>T	ENST00000242067.6	+	19	2541	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	BBS9_ENST00000354265.4_Missense_Mutation_p.R639W|BBS9_ENST00000396127.2_Missense_Mutation_p.R639W|BBS9_ENST00000355070.2_Missense_Mutation_p.R669W|BBS9_ENST00000350941.3_Missense_Mutation_p.R634W	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTACAATTTCGGGCCATTCA	0.403000									Bardet-Biedl syndrome				19	134					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103341984	103341984	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103341984G>A	ENST00000560371.1	+	4	538	c.321G>A	c.(319-321)aaG>aaA	p.K107K	TRAF3_ENST00000539721.1_Silent_p.K107K|TRAF3_ENST00000392745.2_Silent_p.K107K|TRAF3_ENST00000347662.4_Silent_p.K107K|TRAF3_ENST00000351691.5_Silent_p.K107K	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	107					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ATTGCTGCAAGAGAGAAATTC	0.403000													4	79					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3405943	3405943	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3405943G>A	ENST00000304936.2	+	1	55	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AACCAGTGATGGACGGGGTGA	0.458000													6	57					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159842769	159842769	+	Silent	SNP	G	G	A	rs144795673		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159842769G>A	ENST00000426543.2	-	11	1742	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	CCDC19_ENST00000368099.4_Silent_p.I514I|RP11-190A12.7_ENST00000544342.1_Silent_p.I12I|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	514						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGATCTCATCGATGCGCTCAC	0.572000													6	54					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297915	124297915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124297915C>T	ENST00000409039.3	+	19	3020	c.2995C>T	c.(2995-2997)Ctc>Ttc	p.L999F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	999	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTATCGACCTCTCTGGAAATT	0.398000													8	82					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214209112	214209112	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:214209112C>T	ENST00000366958.4	+	5	2757	c.2149C>T	c.(2149-2151)Ctg>Ttg	p.L717L	PROX1_ENST00000261454.4_Silent_p.L717L|PROX1_ENST00000435016.1_Silent_p.L717L|PROX1_ENST00000498508.2_Silent_p.L717L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	717	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CATCTGCAAGCTGGATAGTGA	0.418000													12	36					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297945	124297945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124297945G>A	ENST00000409039.3	+	19	3050	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1009	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TATTGTGATGGAGAAATTTGC	0.403000													6	83					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823546	47823546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47823546C>T	ENST00000355085.3	+	2	534	c.512C>T	c.(511-513)tCc>tTc	p.S171F		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	171					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACCATACCCTCCTTCCTGTAC	0.612000													17	126					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670089	44670089	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44670089T>C	ENST00000454036.1	+	8	1121	c.1045T>C	c.(1045-1047)Ttc>Ctc	p.F349L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.F326L|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	349					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCCTCTCGCTTCCTCAACGC	0.562000													8	60					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595048	140595048	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595048C>T	ENST00000341948.4	+	1	1540	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		451	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCCGCCTTCACCCAAACCT	0.572000													7	90					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376624	78376624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:78376624G>A	ENST00000255192.3	+	4	439	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	BHMT2_ENST00000521567.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	125	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCAGAAGGATGAAGCTAGAAT	0.453000													4	44					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928671	10928671	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498000													5	35					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730924	57730924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57730924G>A	ENST00000281282.5	+	2	805	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	243	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGCACCAAGGAGAGGGTGGG	0.547000													6	100					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014622	53014622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53014622C>T	ENST00000421239.2	+	6	1232	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAAGTCATCCCTTACATGCCA	0.428000													11	57					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561870	145561870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145561870G>A	ENST00000355594.4	+	10	1645	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	520										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTCATGGAGGGAGCCCTGGG	0.622000													23	182					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51742809	51742809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51742809G>A	ENST00000262262.4	+	7	982	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CD33_ENST00000600557.1_3'UTR|CD33_ENST00000421133.2_Missense_Mutation_p.E194K	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	321					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGGCCCCACTGAAACCTCAAG	0.522000													6	39					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088193	94088193	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94088193C>T	ENST00000553484.1	+	31	4834	c.4680C>T	c.(4678-4680)atC>atT	p.I1560I	UNC79_ENST00000555664.1_Silent_p.I1538I|UNC79_ENST00000256339.4_Silent_p.I1361I|UNC79_ENST00000393151.2_Silent_p.I1538I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1538						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCGTATATCGCACAAAGAC	0.498000													7	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062053	216062053	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216062053G>A	ENST00000366943.2	-	41	8324	c.7938C>T	c.(7936-7938)ccC>ccT	p.P2646P	USH2A_ENST00000307340.3_Silent_p.P2646P|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2646	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTGGGTAGGGGGTTGCCAAG	0.502000										HNSCC(13;0.011)			5	43					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74972790	74972790	+	Missense_Mutation	SNP	C	C	T	rs145811412	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74972790C>T	ENST00000261978.4	-	28	4524	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1336N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1380	EGF-like 16; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCTGGGCATCGTACTCCTCC	0.622000													15	71					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102723	3102723	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3102723C>T	ENST00000378398.3	+	2	154	c.72C>T	c.(70-72)ccC>ccT	p.P24P	PRDM16_ENST00000378391.2_Silent_p.P24P|PRDM16_ENST00000511072.1_Silent_p.P24P|PRDM16_ENST00000442529.2_Silent_p.P24P|PRDM16_ENST00000441472.2_Silent_p.P24P|PRDM16_ENST00000514189.1_Silent_p.P24P|PRDM16_ENST00000270722.5_Silent_p.P24P			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	24					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGTATGAGCCCAACCGGGACC	0.632000			T	EVI1	"""MDS, AML"""								6	94					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520713	131520713	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131520713G>A	ENST00000423981.1	+	2	1178	c.1068G>A	c.(1066-1068)agG>agA	p.R356R	AMER3_ENST00000321420.4_Silent_p.R356R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GCCCCTGCAGGGACCCTCGCA	0.657000													6	42					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183472089	183472089	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183472089T>G	ENST00000305135.5	+	11	1521	c.1326T>G	c.(1324-1326)gtT>gtG	p.V442V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	442					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAAGTCAGGTTCCTAATCCTG	0.438000													4	50					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108375	21108375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:21108375C>T	ENST00000377122.4	-	20	2429	c.2033G>A	c.(2032-2034)cGa>cAa	p.R678Q	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	678					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCCTGGTTTCGCCTCACTCT	0.433000													5	55					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736438	73736438	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73736438G>A	ENST00000200181.3	+	21	2633		c.e21-1		ITGB4_ENST00000584558.1_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTTCCTTAGTGCCCTACGG	0.647000													7	72					0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96690336	96690336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96690336C>T	ENST00000434632.1	-	16	1967	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N|GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	503					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657000													20	48					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738884	38738884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38738884C>T	ENST00000449082.2	-	27	5826	c.5827G>A	c.(5827-5829)Gaa>Aaa	p.E1943K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1943					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTTCATCTTCATTTTGTATT	0.478000													5	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534885	92534885	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92534885C>T	ENST00000298047.6	+	9	8723	c.8706C>T	c.(8704-8706)ttC>ttT	p.F2902F	FAT3_ENST00000409404.2_Silent_p.F2902F|FAT3_ENST00000525166.1_Silent_p.F2752F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2902	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGAGGCATTCTCTCTTTCCT	0.522000										TCGA Ovarian(4;0.039)			11	145					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61495703	61495703	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61495703C>T	ENST00000424789.2	+	24	3955	c.3951C>T	c.(3949-3951)gcC>gcT	p.A1317A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.A1327A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1317							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTACTAAGGCCCTGGAGCTGA	0.443000													7	16					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16736383	16736383	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16736383C>T	ENST00000335496.1	-	6	782	c.300G>A	c.(298-300)cgG>cgA	p.R100R	SPATA21_ENST00000540400.1_Silent_p.R77R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	100							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCGAGGCTCTCCGATGGGAGG	0.662000													6	54					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379966	379966	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:379966C>T	ENST00000329962.6	+	16	2589	c.2589C>T	c.(2587-2589)ttC>ttT	p.F863F		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	863						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGGATTTCGAGAGCGAGG	0.677000													11	65					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101654089	101654089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:101654089C>T	ENST00000409318.1	-	8	1487	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	TBC1D8_ENST00000376840.4_Missense_Mutation_p.E438K	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	438					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.E438*(1)|p.E453*(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCACTCTCCTCGCTATTTTGA	0.537000													9	124					0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022598	34022598	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34022598G>A	ENST00000374375.1	+	2	1084	c.642G>A	c.(640-642)caG>caA	p.Q214Q	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron																cervix(1)|endometrium(4)|lung(4)	9						AGAACACCCAGAAGTCATTCC	0.597000													8	116					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67222850	67222850	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67222850G>A	ENST00000325656.5	+	0	33				CABP4_ENST00000542025.2_Intron|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4						visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAAAGCCAAGGGTGCCCAGGG	0.602000													4	33					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045703	42045703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42045703G>A	ENST00000372584.1	-	3	5780	c.4766C>T	c.(4765-4767)tCa>tTa	p.S1589L	HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1589L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1589L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1589L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1589					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TACCTTCTTTGAGTCCGTACC	0.502000													42	164					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968540	200968540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200968540C>T	ENST00000332129.2	-	13	2138	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	KIF21B_ENST00000461742.2_Missense_Mutation_p.E608K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E608K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E608K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	608					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCTCATCTTCATCCTCGCGC	0.642000													9	71					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101777698	101777698	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101777698G>A	ENST00000375001.3	+	10	1776		c.e10-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						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)				TTTCATTTCAGGGTCCAAGCA	0.547000													7	43					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37480389	37480389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37480389C>T	ENST00000381792.2	-	10	1282	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R381K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R381K|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R390K|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R390K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	390	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ATACTTCTGCCTCCTCAGTGC	0.622000													3	28					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953831	8953831	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8953831G>A	ENST00000595891.1	+	3	708	c.477G>A	c.(475-477)ggG>ggA	p.G159G	MBD3L1_ENST00000305625.2_Silent_p.G159G			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						AACAGGAAGGGAAAGTGAAGA	0.493000													5	23					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019208	27019208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:27019208G>A	ENST00000354760.3	+	3	85	c.50G>A	c.(49-51)tGg>tAg	p.W17*	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	17	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ATGGTGGTGTGGGATGAGGAC	0.602000													8	124					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110932392	110932392	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:110932392C>T	ENST00000265171.5	+	24	3850	c.3405C>T	c.(3403-3405)ccC>ccT	p.P1135P	EGF_ENST00000503392.1_Silent_p.P1094P|EGF_ENST00000509793.1_Silent_p.P1093P	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1135					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGCAGGAGCCCCAGTTATGTG	0.453000													10	30					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427937	197427937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197427937C>T	ENST00000273582.5	-	7	1173	c.628G>A	c.(628-630)Gat>Aat	p.D210N	KIAA0226_ENST00000389665.5_Missense_Mutation_p.D270N|KIAA0226_ENST00000449205.1_Missense_Mutation_p.D270N|KIAA0226_ENST00000296343.5_Missense_Mutation_p.D270N	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	270	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATGGTTTGATCCTCTGCTGGT	0.512000													15	62					0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13084260	13084260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13084260C>T	ENST00000317060.2	+	2	561	c.382C>T	c.(382-384)Cat>Tat	p.H128Y	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	128	CTCK.					extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GTGCTTTGGTCATTGCTCCTC	0.627000													12	95					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218940231	218940231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218940231G>A	ENST00000374155.3	+	8	1486	c.1076G>A	c.(1075-1077)tGg>tAg	p.W359*	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Nonsense_Mutation_p.W339*|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	339							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGCAGAGTGGAGTCACGTC	0.607000													4	25					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115231335	115231335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115231335G>A	ENST00000369538.3	-	2	196	c.149C>T	c.(148-150)gCt>gTt	p.A50V	AMPD1_ENST00000520113.2_Missense_Mutation_p.A54V|AMPD1_ENST00000353928.6_Missense_Mutation_p.A21V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	21					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	CACTTTTTCAGCAAAGTTGCG	0.408000													8	90					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906672	38906672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38906672C>T	ENST00000312150.4	-	6	1195	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	379	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GTCTCAATTTCTTTTTCCAGG	0.498000													12	141					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954770	30954770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30954770C>T	ENST00000376296.3	+	2	1059	c.818C>T	c.(817-819)tCt>tTt	p.S273F	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	273	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGAGTCCAGC	0.617000													19	143					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116931443	116931443	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:116931443C>T	ENST00000356083.3	+	3	1999	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	536	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGAAGCCCATTGGATCGG	0.632000													13	71					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979003	979003	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:979003C>T	ENST00000379370.2	+	9	1739	c.1689C>T	c.(1687-1689)gcC>gcT	p.A563A		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	563	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGGCTTTGGCCCAGCCCGTGT	0.687000													17	70					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192700975	192700975	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:192700975G>A	ENST00000304141.4	-	2	1281	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	318						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTGCTAGGCAGGTCTTCTGAC	0.542000													18	96					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418411	43418411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43418411C>T	ENST00000357338.3	-	6	1718	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	DLK2_ENST00000372488.3_Missense_Mutation_p.G340R|DLK2_ENST00000414245.1_Missense_Mutation_p.G334R|DLK2_ENST00000372485.1_Missense_Mutation_p.G334R	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	340						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAACAGGGTCCAGGGGGGCAG	0.657000													5	40					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68852754	68852754	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68852754G>A	ENST00000294309.3	+	20	1939	c.1838_splice	c.e20+1	p.S613_splice	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	613					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAAACAGCAGGTGAGGTGGG	0.612000													7	73					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120168404	120168404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120168404G>A	ENST00000392521.2	-	27	3437	c.3382C>T	c.(3382-3384)Cgc>Tgc	p.R1128C	CIT_ENST00000261833.7_Missense_Mutation_p.R1086C|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1086	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACCACCTGGCGAGACTCGGTG	0.597000													5	31					0	0	1	0	0
VTI1B	10490	broad.mit.edu	37	14	68120182	68120182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:68120182G>A	ENST00000554659.1	-	5	915	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	192					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		AGAATCTTCCGACTTTTGCTC	0.328000													9	18					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55340859	55340859	+	Silent	SNP	G	G	A	rs149135890		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55340859G>A	ENST00000371269.3	-	4	617	c.519C>T	c.(517-519)atC>atT	p.I173I	DHCR24_ENST00000537443.1_Silent_p.I5I|DHCR24_ENST00000535035.1_Silent_p.I132I	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	173	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						ATGATGACTCGATGCCTGTGC	0.587000													13	75					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003196	122003196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122003196G>A	ENST00000498619.1	+	7	2863	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K	CASR_ENST00000490131.1_Missense_Mutation_p.E799K|CASR_ENST00000296154.5_Missense_Mutation_p.E799K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	799					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAAGCTGCCGGAGAACTTCAA	0.547000													4	38					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72234468	72234468	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72234468G>A	ENST00000582365.1	+	5	493	c.426_splice	c.e5-1	p.D143_splice	CNDP1_ENST00000358821.3_Splice_Site_p.D186_splice|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	186					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTTACTTAGGATCTTCCTGT	0.433000													6	30					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615450	70615450	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70615450T>C	ENST00000310613.2	-	4	661	c.364A>G	c.(364-366)Aac>Gac	p.N122D		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	122					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTGCAATTGTTTTCCCAGAAA	0.358000													10	54					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209755	19209755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:19209755C>T	ENST00000533783.1	-	4	449	c.209G>A	c.(208-210)gGg>gAg	p.G70E	CSRP3_ENST00000265968.3_Missense_Mutation_p.G70E	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	70	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding	p.G70E(1)		kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						ATACCCGATCCCTTTGGGGCC	0.607000													10	95					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19387761	19387761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19387761G>A	ENST00000247001.5	-	13	2253	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	636					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CGTACCAGGGGGTTGGGCCGG	0.627000													6	87					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5837732	5837732	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5837732C>T	ENST00000324989.7	-	11	1621	c.1533G>A	c.(1531-1533)agG>agA	p.R511R	CRMP1_ENST00000512574.1_Silent_p.R395R|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.R397R	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	397					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.R511R(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCCGCCCTTTCCTTGGGTACA	0.532000													14	100					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356660	42356660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42356660C>T	ENST00000554171.1	+	5	3264	c.832C>T	c.(832-834)Cct>Tct	p.P278S	LRFN5_ENST00000554120.1_Missense_Mutation_p.P278S|LRFN5_ENST00000298119.4_Missense_Mutation_p.P278S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	278	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGTCAATTCCTGAAGAAGA	0.473000										HNSCC(30;0.082)			10	79					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601914	52601914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:52601914G>A	ENST00000395961.3	-	7	1218	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F	BCAS1_ENST00000434986.2_Missense_Mutation_p.S109F|BCAS1_ENST00000371435.2_Missense_Mutation_p.S351F|BCAS1_ENST00000371440.3_Missense_Mutation_p.S396F	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	351						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGTTGTCACGGACTGTGTGTG	0.517000													5	34					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653767	71653767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71653767C>T	ENST00000409544.1	+	24	5398	c.4768C>T	c.(4768-4770)Cgt>Tgt	p.R1590C	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1590C|ZNF638_ENST00000409407.1_Missense_Mutation_p.R530C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1590					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTCCACTCCTCGTGGTGTTGA	0.418000													4	34					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999051	129999051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129999051C>T	ENST00000263574.5	+	10	1477	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	APLP2_ENST00000539648.1_Missense_Mutation_p.R257W|APLP2_ENST00000528499.1_Missense_Mutation_p.R413W|APLP2_ENST00000345598.5_Missense_Mutation_p.R240W|APLP2_ENST00000543137.1_Missense_Mutation_p.R376W|APLP2_ENST00000278756.7_Missense_Mutation_p.R479W|APLP2_ENST00000338167.5_Missense_Mutation_p.R469W	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	469					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGACCGCCGTCGGATGGCTCT	0.592000													8	74					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133474262	133474262	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133474262C>T	ENST00000402696.3	+	5	1043	c.558C>T	c.(556-558)ttC>ttT	p.F186F	TF_ENST00000264998.3_Silent_p.F59F	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	186	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGACGGACTTCCCCCAGCTGT	0.572000													8	53					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258333	56258333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56258333C>T	ENST00000327216.2	-	1	538	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGATTAATTTCATTGGGGCCA	0.498000													11	80					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457308	110457308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110457308G>A	ENST00000378402.5	+	38	5314	c.5210G>A	c.(5209-5211)gGa>gAa	p.G1737E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1737	IPT/TIG 9.				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)			CAGTGCCAGGGAAACTGCACC	0.433000										HNSCC(38;0.096)			7	83					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208391132	208391132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208391132G>A	ENST00000367033.3	-	2	893	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	46	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)		GTCCAGTCACGATTCTCAGAG	0.617000													13	98					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33682473	33682473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:33682473C>T	ENST00000321505.4	+	19	5361	c.5181C>T	c.(5179-5181)ttC>ttT	p.F1727F	KIAA1549L_ENST00000389726.3_Silent_p.F1733F					KIAA1549-like																		CCGGCTACTTCATCCCAACGC	0.572000													4	17					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32502582	32502582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32502582G>A	ENST00000286827.3	-	26	4465	c.3994C>T	c.(3994-3996)Cga>Tga	p.R1332*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.R1272*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1332	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCATGTGTCGAAATCTGAAG	0.507000													11	128					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251172	43251172	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43251172G>A	ENST00000259750.4	+	14	2777	c.2694G>A	c.(2692-2694)ccG>ccA	p.P898P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	898						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAAGCCCCCGGGGCCTGGGG	0.672000													9	30					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023569	130023569	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:130023569C>T	ENST00000011292.3	+	6	780	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CPA1_ENST00000484324.1_Silent_p.L122L	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	210					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.L210L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CCGCCATTCTCGACACCTTGG	0.607000													11	138					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38192815	38192815	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38192815G>A	ENST00000373048.4	-	8	1730	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	EPHA10_ENST00000540011.1_Silent_p.L72L|EPHA10_ENST00000427468.2_Silent_p.L577L|EPHA10_ENST00000330210.7_Silent_p.L72L|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	577						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCCAGGACGAGGAGGGCCG	0.617000													5	43					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3221983	3221983	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3221983C>T	ENST00000355072.5	+	53	7462	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2439					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCGTGGAGTTCCTCCAGGAAA	0.512000													8	109					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23873512	23873512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23873512G>A	ENST00000405093.3	-	8	798	c.728C>T	c.(727-729)tCc>tTc	p.S243F	MYH6_ENST00000356287.3_Missense_Mutation_p.S243F	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	243	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CACAAAGCGGGAGGAGTTGTC	0.562000													12	96					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491243	65491243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65491243C>T	ENST00000261883.4	-	9	1547	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	461					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCCCTTTCCTCTGTCTTGGAG	0.592000													12	38					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9380002	9380002	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:9380002G>A	ENST00000382496.5	-	3	722	c.57C>T	c.(55-57)ctC>ctT	p.L19L	CTD-2201E9.4_ENST00000511310.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	19					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTGGGTGGGCGAGTCTCCACA	0.562000													12	65					0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12208797	12208797	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12208797C>T	ENST00000432424.2	+	0	1216							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCAGATTGCCATGTCAGACA	0.512000													12	149					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3396453	3396453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3396453G>A	ENST00000378378.4	+	14	2371	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.V368I|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.V368I|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.V360I	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	656	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCGGACGTGGTCCTGGTTCT	0.642000													6	68					0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554533	152554533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:152554533C>T	ENST00000305097.3	+	1	1798	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	321					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTGTGGACCCCATTCTCTAT	0.463000													5	69					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387045	150387045	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150387045G>A	ENST00000367339.1	-	2	370	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ULBP3_ENST00000438272.2_Silent_p.F114F			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	114	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CACTGGGTGTGAAATCCTCCA	0.542000													5	81					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288065	202288065	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202288065C>T	ENST00000367278.3	+	18	2723	c.2634C>T	c.(2632-2634)ctC>ctT	p.L878L	LGR6_ENST00000439764.2_Silent_p.L739L|LGR6_ENST00000255432.7_Silent_p.L826L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	878						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATGTGGATCTCATTCTGGAAG	0.637000													6	103					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827768	79827768	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79827768C>T	ENST00000269321.7	-	2	174	c.39G>A	c.(37-39)caG>caA	p.Q13Q	ARHGDIA_ENST00000541078.2_Silent_p.Q13Q|ARHGDIA_ENST00000581876.1_Silent_p.Q13Q|ARHGDIA_ENST00000400721.4_Silent_p.Q13Q|ARHGDIA_ENST00000584461.1_Silent_p.Q13Q|ARHGDIA_ENST00000580685.1_Silent_p.Q13Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	13					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCGCTGCAATCTGGGCCAGCT	0.632000													6	53					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179196	154179196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154179196C>T	ENST00000336314.4	+	9	1216	c.1192C>T	c.(1192-1194)Cgt>Tgt	p.R398C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	475	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGAAAGTTCGTAGGAGGGA	0.483000													21	71					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995347	15995347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15995347G>A	ENST00000268712.3	-	22	3103	c.2846C>T	c.(2845-2847)cCa>cTa	p.P949L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P965L|NCOR1_ENST00000395848.1_Missense_Mutation_p.P856L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	949					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTTCCAATTGGTATGTTACA	0.433000													4	52					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995588	139995588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139995588C>T	ENST00000371589.4	+	7	1121	c.1048C>T	c.(1048-1050)Ctc>Ttc	p.L350F	MAN1B1_ENST00000474902.1_Missense_Mutation_p.L53F	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	350					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TGGGGACAGCCTCTTCCTGAG	0.552000													5	58					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901193	51901193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:51901193G>A	ENST00000268919.4	+	1	955	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	267	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTCTGCTTCGACCATGCCTT	0.557000													5	39					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059395	152059395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152059395C>T	ENST00000368806.1	-	3	827	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	255							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAGTTTCCTTCCTGTTCTCCA	0.433000													6	84					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881353	228881353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228881353G>A	ENST00000392056.3	-	7	4263	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1406F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1406						cytoplasm	protein binding	p.S1406F(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCACGAGGAAGTTTCTTT	0.438000													4	83					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82402474	82402474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82402474C>T	ENST00000370728.1	+	7	995	c.350C>T	c.(349-351)cCt>cTt	p.P117L	LPHN2_ENST00000370723.1_Missense_Mutation_p.P117L|LPHN2_ENST00000370715.1_Missense_Mutation_p.P117L|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_Missense_Mutation_p.P117L|LPHN2_ENST00000370717.2_Missense_Mutation_p.P117L|LPHN2_ENST00000370725.1_Missense_Mutation_p.P117L|LPHN2_ENST00000271029.4_Missense_Mutation_p.P117L|LPHN2_ENST00000370730.1_Missense_Mutation_p.P117L|LPHN2_ENST00000359929.3_Missense_Mutation_p.P117L|LPHN2_ENST00000370727.1_Missense_Mutation_p.P117L|LPHN2_ENST00000335786.5_Missense_Mutation_p.P117L|LPHN2_ENST00000370721.1_Missense_Mutation_p.P117L|LPHN2_ENST00000319517.6_Missense_Mutation_p.P117L|LPHN2_ENST00000394879.1_Missense_Mutation_p.P117L			O95490	LPHN2_HUMAN	latrophilin 2	117	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GATCCATGTCCTGGAACATAC	0.353000													7	25					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15569183	15569183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15569183C>T	ENST00000343625.6	-	8	924	c.844G>A	c.(844-846)Gac>Aac	p.D282N		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	282	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						ATCCAGCGGTCTCTCTCAGCG	0.632000													4	15					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276098	63276098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63276098C>T	ENST00000415491.2	+	1	640	c.26C>T	c.(25-27)cCt>cTt	p.P9L	LGALS12_ENST00000394618.3_Missense_Mutation_p.P70L|LGALS12_ENST00000340246.5_Missense_Mutation_p.P70L|LGALS12_ENST00000425950.2_Missense_Mutation_p.P9L|LGALS12_ENST00000255684.5_Missense_Mutation_p.P70L	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	70					apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GGAGTGGTCCCTCTAGATGCA	0.572000													4	58					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174515	51174515	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51174515T>C	ENST00000440970.1	-	2	1758	c.1327A>G	c.(1327-1329)Agc>Ggc	p.S443G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S540G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	540					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTAGCCAGCTGGTGACTGGC	0.562000													9	74					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138255624	138255624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138255624C>T	ENST00000343526.4	+	11	1969	c.1754C>T	c.(1753-1755)tCc>tTc	p.S585F	TRIM24_ENST00000415680.2_Missense_Mutation_p.S551F			O15164	TIF1A_HUMAN	tripartite motif containing 24	585					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AACAGCACATCCTCTACTCCT	0.463000													9	42					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234519	21234519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21234519C>T	ENST00000233242.1	-	26	5348	c.5221G>A	c.(5221-5223)Gac>Aac	p.D1741N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1741					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCCATCATGTCATTTGAGAGC	0.408000													34	525					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119069	55119069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55119069C>T	ENST00000414150.2	+	3	748	c.470C>T	c.(469-471)tCa>tTa	p.S157L	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.S157L|MROH7_ENST00000395690.2_Missense_Mutation_p.S157L|MROH7_ENST00000339553.5_Missense_Mutation_p.S157L|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		AAGTGCCTCTCAAGTAAGATT	0.493000													6	72					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455332	27455332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27455332C>T	ENST00000264705.4	+	18	2824	c.2662C>T	c.(2662-2664)Cgc>Tgc	p.R888C	CAD_ENST00000403525.1_Missense_Mutation_p.R825C|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	888	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCTGGCTGTTCGCAAGCTGCG	0.507000													25	35					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049697	42049697	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049697T>A	ENST00000372584.1	-	3	1786	c.772A>T	c.(772-774)Atg>Ttg	p.M258L	HIVEP3_ENST00000372583.1_Missense_Mutation_p.M258L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.M258L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.M258L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	258	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTGGGTACATCTCGCCACCC	0.562000													5	79					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39765950	39765950	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39765950C>T	ENST00000564288.1	+	22	3327	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	MACF1_ENST00000317713.7_Silent_p.I855I|MACF1_ENST00000361689.2_Silent_p.I855I|MACF1_ENST00000567887.1_Silent_p.I887I|MACF1_ENST00000545844.1_Silent_p.I855I|MACF1_ENST00000539005.1_Silent_p.I855I|MACF1_ENST00000372915.3_Silent_p.I855I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	855					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)			CAAAAACCATCGTTCAGCTAA	0.433000													10	58					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204913	10204913	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10204913C>T	ENST00000418404.3	-	39	5938	c.5775G>A	c.(5773-5775)agG>agA	p.R1925R	MYH13_ENST00000252172.4_Silent_p.R1925R|MYH13_ENST00000570743.1_Silent_p.R1925R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1925					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGCTCTTGGCCCTCAGCTTGT	0.587000													6	100					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176594942	176594942	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:176594942G>A	ENST00000280187.7	-	4	321	c.276C>T	c.(274-276)ttC>ttT	p.F92F	GPM6A_ENST00000515090.1_Silent_p.F85F|GPM6A_ENST00000506894.1_Silent_p.F81F|GPM6A_ENST00000393658.2_Silent_p.F92F	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	92						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418000													4	18					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460771	142460771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142460771C>T	ENST00000486171.1	+	6	703	c.686C>T	c.(685-687)tCc>tTc	p.S229F	PRSS1_ENST00000311737.7_Missense_Mutation_p.S215F			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	215	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGTTGTCTCCTGGGGTGAT	0.502000													21	49					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20840970	20840970	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20840970A>T	ENST00000262715.5	-	49	7038	c.6998T>A	c.(6997-6999)tTt>tAt	p.F2333Y	TEP1_ENST00000556935.1_Missense_Mutation_p.F2225Y|TEP1_ENST00000545983.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2333					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)		GAGGACAAAAAAGGTGTGTGC	0.507000													10	78					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406258	38406258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38406258G>A	ENST00000322350.5	+	7	1089	c.743G>A	c.(742-744)gGa>gAa	p.G248E	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G14E|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G248E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	248						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCCGCTATGGACCCCGTTAT	0.478000													5	33					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94733976	94733976	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94733976T>G	ENST00000371552.4	+	18	1954	c.1925T>G	c.(1924-1926)tTt>tGt	p.F642C	EXOC6_ENST00000443748.2_Missense_Mutation_p.F544C|EXOC6_ENST00000260762.6_Missense_Mutation_p.F647C|EXOC6_ENST00000371547.4_Missense_Mutation_p.F663C	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	647					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTCAAGTGTTTACTCATTTG	0.313000													19	236					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131104327	131104327	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:131104327G>A	ENST00000357668.1	-	24	2491	c.2464C>T	c.(2464-2466)Cta>Tta	p.L822L	ASAP1_ENST00000518721.1_Silent_p.L822L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	822	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTCTTGGATAGGGTGGAGCTG	0.572000													10	99					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248996	140248996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140248996G>A	ENST00000398640.2	+	1	308	c.308G>A	c.(307-309)aGc>aAc	p.S103N	PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGTGCAGCATCCACCTG	0.562000													38	205					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8976448	8976448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8976448G>A	ENST00000299698.7	+	3	559	c.379G>A	c.(379-381)Gac>Aac	p.D127N	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGTACAGACTGACAAACCTCT	0.507000													7	84					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97833005	97833005	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97833005C>T	ENST00000297293.5	+	12	4520	c.4227C>T	c.(4225-4227)tcC>tcT	p.S1409S		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1409					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCGAAAGCTCCACCGACGAAG	0.522000													6	21					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181754461	181754461	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181754461C>T	ENST00000526775.1	+	41	5694	c.5529C>T	c.(5527-5529)gaC>gaT	p.D1843D	CACNA1E_ENST00000358338.5_Silent_p.D1794D|CACNA1E_ENST00000367573.2_Silent_p.D1862D|CACNA1E_ENST00000357570.5_Silent_p.D1813D|CACNA1E_ENST00000360108.3_Silent_p.D1843D|CACNA1E_ENST00000367567.4_Silent_p.D1469D|CACNA1E_ENST00000367570.1_Silent_p.D1862D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1862					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGCCTCTGACCTGACTGTGG	0.468000													4	14					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344127	248344127	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248344127C>T	ENST00000359682.2	+	1	840	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTACACCATCCTCACTCCCA	0.493000													10	47					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092161	143092161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143092161G>A	ENST00000367603.2	-	5	4457	c.3715C>T	c.(3715-3717)Cag>Tag	p.Q1239*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1239*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1239*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAGCTCTTCTGAGGGTGCTGA	0.493000													7	99					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387049	183387049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:183387049G>A	ENST00000435564.1	-	1	255	c.55C>T	c.(55-57)Ctt>Ttt	p.L19F	PDE1A_ENST00000410103.1_Missense_Mutation_p.L19F|PDE1A_ENST00000358139.2_Missense_Mutation_p.L19F|PDE1A_ENST00000331935.6_Missense_Mutation_p.L19F|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.L19F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	19					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTCCTGTAAGATACTTAAAA	0.403000													3	20					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140003	50140003	+	Silent	SNP	G	G	A	rs6096459		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50140003G>A	ENST00000371564.3	-	2	996	c.777C>T	c.(775-777)gcC>gcT	p.A259A	NFATC2_ENST00000414705.1_Silent_p.A239A|NFATC2_ENST00000396009.3_Silent_p.A259A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	259	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGGCAACCAAGGCCTCGGCGC	0.751000													8	45					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157987	59157987	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59157987C>T	ENST00000262717.4	+	2	599	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CDH20_ENST00000536675.2_Silent_p.F67F|CDH20_ENST00000538374.1_Silent_p.F67F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	67	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F67F(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCAGTTTTTCGTTCTGGAAG	0.478000													17	61					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118783993	118783993	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118783993G>A	ENST00000394610.1	-	5	861	c.597C>T	c.(595-597)atC>atT	p.I199I	SEPT6_ENST00000394617.2_Silent_p.I229I|SEPT6_ENST00000489216.1_Silent_p.I199I|SEPT6_ENST00000354416.3_Silent_p.I199I|SEPT6_ENST00000354228.4_Silent_p.I199I|SEPT6_ENST00000394616.4_Silent_p.I141I|SEPT6_ENST00000343984.5_Silent_p.I199I|SEPT6_ENST00000360156.7_Silent_p.I199I	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	199					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGGTGATTTTGATTTTGAACT	0.478000			T	MLL	AML								27	60					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233511	45233511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:45233511G>A	ENST00000303077.6	-	2	993	c.674C>T	c.(673-675)tCa>tTa	p.S225L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	225						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGGATGATGAGTGGTCTGG	0.667000													16	120					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105095	207105095	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207105095C>T	ENST00000356495.4	-	9	2244	c.2061G>A	c.(2059-2061)gaG>gaA	p.E687E	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	687						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCTGGAGTTCTCGAAGTCTG	0.517000													9	118					0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232577546	232577546	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:232577546C>T	ENST00000409115.3	+	5	516	c.318C>T	c.(316-318)acC>acT	p.T106T	PTMA_ENST00000410064.1_Silent_p.T132T|PTMA_ENST00000409683.1_Silent_p.T103T|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000341369.7_Silent_p.T107T|PTMA_ENST00000409321.1_Silent_p.T127T	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	107					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGCAGAAGACCGACGAGGATG	0.493000													3	5					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428830	139428830	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:139428830G>A	ENST00000272641.3	-	2	563	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	153	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ACATTGCCCAGGCCTGTTGAA	0.438000													6	20					0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149937520	149937520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:149937520G>A	ENST00000370377.3	-	11	893	c.776C>T	c.(775-777)cCa>cTa	p.P259L	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Missense_Mutation_p.P210L|CD99L2_ENST00000437787.2_Missense_Mutation_p.P186L|CD99L2_ENST00000355149.3_Missense_Mutation_p.P187L	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	259	Poly-Pro.				cell adhesion	cell junction|integral to membrane		p.P259Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GATCCGGGCTGGTTCGGGCGG	0.622000													20	61					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447914	19447914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19447914G>A	ENST00000375267.2	-	68	9913	c.9910C>T	c.(9910-9912)Ctc>Ttc	p.L3304F	UBR4_ENST00000375217.2_Missense_Mutation_p.L3297F|UBR4_ENST00000375254.3_Missense_Mutation_p.L3304F|UBR4_ENST00000375226.2_Missense_Mutation_p.L3280F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3304					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTTGGAGGAGGAAGTACAGG	0.582000													7	38					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147505304	147505304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:147505304C>T	ENST00000359874.3	+	30	2921	c.2848C>T	c.(2848-2850)Cga>Tga	p.R950*	SPINK5_ENST00000256084.7_Nonsense_Mutation_p.R920*	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	920	Kazal-like 14.				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)			CAGTGAATTTCGAAACTATAT	0.408000													9	110					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592148	22592148	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22592148C>T	ENST00000390455.3	+	0	442																											GAAATGGCCTCTCTGATCATC	0.463000													4	16					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395127	3395127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3395127C>T	ENST00000378378.4	+	12	2170	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.R301C|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.R301C|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.R293C	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	589	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GACCCTGCTTCGCAACAGCGA	0.672000													9	39					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39688533	39688533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39688533G>A	ENST00000287152.7	-	2	215	c.121C>T	c.(121-123)Cca>Tca	p.P41S	KIF6_ENST00000538893.1_Missense_Mutation_p.P41S|KIF6_ENST00000373216.3_Missense_Mutation_p.P41S|KIF6_ENST00000373215.3_Missense_Mutation_p.P41S	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	41	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAATCACGTGGTAAGATGATT	0.299000													4	51					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52395698	52395698	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52395698C>T	ENST00000420323.2	+	30	5157	c.4896C>T	c.(4894-4896)ttC>ttT	p.F1632F	DNAH1_ENST00000466628.1_Intron	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1632	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTGCTTCGACGAGTTCA	0.642000													3	5					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19213005	19213005	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19213005G>A	ENST00000375341.3	-	4	507	c.249_splice	c.e4-1	p.P84_splice	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Splice_Site_p.P24_splice|ALDH4A1_ENST00000290597.5_Splice_Site_p.P84_splice|ALDH4A1_ENST00000538839.1_Splice_Site_p.P84_splice	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	84					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGGTTAAAAGGCTGAAAGGAG	0.557000													9	41					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586356	15586356	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15586356G>A	ENST00000292609.4	-	2	1254	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	PGLYRP2_ENST00000340880.4_Silent_p.A375A			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	375					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CACCCAGGAAGGCCTCAGTGA	0.557000													29	153					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113299452	113299452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113299452C>T	ENST00000297405.5	-	58	9416	c.9172G>A	c.(9172-9174)Gat>Aat	p.D3058N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2889N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2988N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3018N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3058	Sushi 22.					integral to membrane|plasma membrane		p.D3058N(1)		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						GTACCTGGATCGCCACATGTC	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	14					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100865982	100865982	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100865982C>T	ENST00000305105.2	+	2	648	c.120C>T	c.(118-120)ttC>ttT	p.F40F	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	40							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGACAACTTCCAGGATGACC	0.672000													7	93					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418876	44418876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44418876G>A	ENST00000269973.5	-	10	1802	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	ZNF45_ENST00000589703.1_Missense_Mutation_p.H238Y|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	238					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ACTCTCTGATGATGGGGAAGA	0.428000													10	76					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556155	52556155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52556155G>A	ENST00000321725.6	+	59	6450	c.6374G>A	c.(6373-6375)gGt>gAt	p.G2125D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2125	EGF-like 15.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACTACGAGGGTGATGGCTGG	0.662000													6	48					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76783474	76783474	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:76783474A>T	ENST00000261183.3	-	12	1782	c.1303T>A	c.(1303-1305)Ttc>Atc	p.F435I	OSBPL8_ENST00000393250.4_Missense_Mutation_p.F393I|OSBPL8_ENST00000393249.2_Missense_Mutation_p.F393I	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	435					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTATCCAGGAAAGAACGGGGT	0.358000													6	60					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17566267	17566267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17566267C>T	ENST00000375471.4	+	14	1713	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	PADI1_ENST00000413717.2_Missense_Mutation_p.L98F|PADI1_ENST00000536552.1_Missense_Mutation_p.L12F|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000537499.1_Missense_Mutation_p.L98F	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	541					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAGAGACAATCTTCATGCACA	0.507000													4	19					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12460289	12460289	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12460289C>A	ENST00000358136.3	+	61	11816	c.11686C>A	c.(11686-11688)Ccc>Acc	p.P3896T	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3871T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3895					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTATGTGACTCCCCTGAGCAA	0.512000													12	75					6.40141e-05	6.48587e-05	1	1	0
IGDCC3	9543	broad.mit.edu	37	15	65622907	65622907	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65622907G>A	ENST00000327987.4	-	10	1985	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	578	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGAGGTTGTAGGAGGAGACGG	0.667000													10	118					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406279	3406279	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3406279C>T	ENST00000304936.2	+	1	391	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCGAGTGCATCCTGCTGGTGG	0.582000													4	36					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128843	3128843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3128843G>A	ENST00000380266.3	-	2	1195	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	292					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GATACCTGACGATTTTCACCT	0.343000													12	69					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499346	150499346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150499346G>A	ENST00000484928.1	+	3	799	c.218G>A	c.(217-219)gGa>gAa	p.G73E	TMEM176A_ENST00000004103.3_Missense_Mutation_p.G73E|TMEM176A_ENST00000461345.1_Missense_Mutation_p.G14E			Q96HP8	T176A_HUMAN	transmembrane protein 176A	73						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCCTAGGAGGATTTTTCTAC	0.572000													4	68					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165561600	165561600	+	Missense_Mutation	SNP	C	C	T	rs138185294		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:165561600C>T	ENST00000375458.2	-	7	1233	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.G404R|COBLL1_ENST00000392717.2_Missense_Mutation_p.G376R|COBLL1_ENST00000409184.3_Missense_Mutation_p.G376R|COBLL1_ENST00000342193.4_Missense_Mutation_p.G338R	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	376										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTCACTCTTCCTGCTTCACAG	0.443000													4	34					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866677	106866677	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106866677G>A	ENST00000390618.2	-	0	154																											GCCTCCCCCAGACTCCACCAG	0.562000													4	48					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203699	135203699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135203699G>A	ENST00000372169.2	-	10	3468	c.3286C>T	c.(3286-3288)Cat>Tat	p.H1096Y	SETX_ENST00000224140.5_Missense_Mutation_p.H1096Y|SETX_ENST00000393220.1_Missense_Mutation_p.H1096Y			Q7Z333	SETX_HUMAN	senataxin	1096					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCGTCTGGATGATCTTGCCAA	0.358000													5	25					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38561937	38561937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38561937G>A	ENST00000481247.1	-	3	503	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	BTBD9_ENST00000419706.2_Missense_Mutation_p.H59Y|BTBD9_ENST00000403056.1_Missense_Mutation_p.H118Y|BTBD9_ENST00000408958.1_Missense_Mutation_p.H50Y|BTBD9_ENST00000314100.6_Missense_Mutation_p.H50Y	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	118					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CCATATTTATGAGCCAGGCTC	0.448000													15	197					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590287	140590287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590287C>T	ENST00000239450.2	+	1	1997	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S266L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		603	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.726000													9	173					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150712866	150712866	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150712866G>A	ENST00000335244.4	-	7	891	c.762C>T	c.(760-762)agC>agT	p.S254S	SLC36A2_ENST00000521967.1_Silent_p.S254S	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	254					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGCAACCGGCTGGGGTCTG	0.438000													9	32					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2123808	2123808	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:2123808C>T	ENST00000382203.1	+	27	4061	c.3852C>T	c.(3850-3852)atC>atT	p.I1284I	SMARCA2_ENST00000357248.2_Silent_p.I1284I|SMARCA2_ENST00000382194.1_Silent_p.I1284I|SMARCA2_ENST00000349721.2_Silent_p.I1284I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1284					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTCCTGGATCATTAAGGATG	0.567000													4	20					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956061	18956061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956061G>A	ENST00000302797.3	-	1	495	c.271C>T	c.(271-273)Ccc>Tcc	p.P91S	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	91					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATGGTATGGGGGATACTGATG	0.517000													16	229					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76370750	76370750	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76370750G>A	ENST00000407242.2	-	3	2129	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.I629I|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.I629I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	629						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGAGGATGATGATGAGGTTGA	0.577000													9	108					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215055	32215055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32215055C>T	ENST00000400246.1	+	22	1856	c.1714C>T	c.(1714-1716)Cca>Tca	p.P572S	DEPDC5_ENST00000400248.1_Missense_Mutation_p.P572S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P572S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P572S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P572S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P572S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P572S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P544S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P572S			O75140	DEPD5_HUMAN	DEP domain containing 5	572					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCCAGTGCACCAGGGAGGTT	0.532000													4	66					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53547716	53547716	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53547716G>A	ENST00000371500.3	+	12	2153	c.1812G>A	c.(1810-1812)caG>caA	p.Q604Q	PODN_ENST00000312553.5_Silent_p.Q623Q|PODN_ENST00000395871.2_Silent_p.Q481Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	575	Glu-rich.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCTGCAGGTCTTGGACA	0.572000													8	75					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220156215	220156215	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220156215G>A	ENST00000295718.2	-	20	2946	c.2706C>T	c.(2704-2706)tcC>tcT	p.S902S	PTPRN_ENST00000409251.3_Silent_p.S873S|PTPRN_ENST00000423636.2_Silent_p.S812S|PTPRN_ENST00000497977.1_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	902	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGATGGGGCAGGAGCGGCCCC	0.587000													4	56					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59945296	59945296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:59945296G>A	ENST00000444766.3	-	24	3418	c.3343C>T	c.(3343-3345)Cct>Tct	p.P1115S	INTS2_ENST00000251334.6_Missense_Mutation_p.P1107S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1115					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TACAATGGAGGAAATGCTCGA	0.378000													5	44					0	0	1	0	0
SEC22B	9554	broad.mit.edu	37	1	145115873	145115873	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145115873G>A	ENST00000453618.1	+	0	959							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GTGTATGTCCGATTCTGGTGG	0.413000													6	84					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527686	3527686	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3527686C>T	ENST00000441788.2	+	7	764	c.528C>T	c.(526-528)ttC>ttT	p.F176F	FZR1_ENST00000395095.3_Silent_p.F176F|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	176					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATCCCCTTCAAGGTGCTGG	0.642000													8	21					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614755	247614755	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247614755A>C	ENST00000318749.6	-	1	553	c.530T>G	c.(529-531)gTg>gGg	p.V177G		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTTGTTCAGCACCTGCCGCCC	0.592000													3	18					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1068724	1068724	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1068724G>A	ENST00000313093.2	+	2	633	c.402G>A	c.(400-402)aaG>aaA	p.K134K	HMHA1_ENST00000539243.2_Silent_p.K150K|HMHA1_ENST00000586866.1_Silent_p.K138K|HMHA1_ENST00000590214.1_Silent_p.K161K|HMHA1_ENST00000536472.1_Intron	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	134					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACTTAAGGAGTGTGTGT	0.662000													6	45					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49497551	49497551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49497551G>A	ENST00000267102.8	-	6	823	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Missense_Mutation_p.L161F|LMBR1L_ENST00000395141.4_Missense_Mutation_p.L156F	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	161					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCAGAGTGAGGAGCATCAAC	0.552000													7	113					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77079887	77079887	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77079887C>T	ENST00000579016.1	+	10	1296	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	432						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCCAGGAGATCCAGCCCTTGT	0.657000													25	67					0	0	1	0	0
UPK2	7379	broad.mit.edu	37	11	118828810	118828810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118828810G>A	ENST00000264031.2	+	5	457	c.422G>A	c.(421-423)aGg>aAg	p.R141K	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	141					cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TTGACAGGAAGGAACATGGAA	0.617000													6	69					0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10239373	10239373	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:10239373A>G	ENST00000511437.1	-	2	124	c.112T>C	c.(112-114)Ttc>Ctc	p.F38L	FAM173B_ENST00000510047.1_Missense_Mutation_p.F38L|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	38						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						GTAAGTAAGAACCCCCAGTTG	0.478000													15	92					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86180773	86180773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:86180773C>T	ENST00000321764.3	+	6	888	c.586C>T	c.(586-588)Cct>Tct	p.P196S	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	196					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						CTGGACATATCCTGGTTCTCT	0.408000													4	29					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12292676	12292676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12292676C>T	ENST00000379375.5	+	2	434	c.167C>T	c.(166-168)tCg>tTg	p.S56L		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	56					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGCTCCTGCTCGTCCCTGATG	0.587000													5	86					0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165883	6165883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6165883G>A	ENST00000588304.1	+	7	891	c.445G>A	c.(445-447)Gat>Aat	p.D149N	ACSBG2_ENST00000591403.1_Missense_Mutation_p.D199N|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.D199N|ACSBG2_ENST00000588485.1_Missense_Mutation_p.D12N|ACSBG2_ENST00000586696.1_Missense_Mutation_p.D199N			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	199					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGTGGGATGATTTCATGGA	0.517000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	37					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69320665	69320665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:69320665G>A	ENST00000260364.5	+	4	532	c.231G>A	c.(229-231)atG>atA	p.M77I	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Missense_Mutation_p.M88I|NOX5_ENST00000448182.3_Missense_Mutation_p.M77I|NOX5_ENST00000388866.3_Missense_Mutation_p.M95I|NOX5_ENST00000530406.2_Missense_Mutation_p.M95I			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	95	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCAGCCCCATGGACAAACTCA	0.557000													10	123					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37900714	37900714	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37900714G>A	ENST00000403299.1	-	9	1662	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	CARD10_ENST00000251973.5_Silent_p.F482F|CARD10_ENST00000406271.3_Silent_p.F196F			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	482					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GAGGGGAGGGGAACTCGCTCA	0.612000													4	51					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39448701	39448701	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39448701C>T	ENST00000280481.7	+	18	8475	c.8259C>T	c.(8257-8259)ggC>ggT	p.G2753G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2753					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTCCATGGCTTATTTGTGC	0.493000													5	76					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921323	24921323	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24921323G>A	ENST00000329468.2	+	1	783	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCCTGCTCGGAACCCCCCGA	0.682000													5	48					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629874	47629874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:47629874C>T	ENST00000546455.1	+	4	1759	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	PCED1B_ENST00000432328.1_Missense_Mutation_p.S343F					PC-esterase domain containing 1B									p.S343F(1)									GCCTGTTTTTCCTCAGACCAT	0.542000													24	139					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170591668	170591668	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170591668C>A	ENST00000392647.2	+	2	388	c.144C>A	c.(142-144)ttC>ttA	p.F48L	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.F48L	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	48	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCATAATTTTCCATTGTCACC	0.343000													11	90					5.50884e-06	5.58865e-06	1	1	0
C2orf44	80304	broad.mit.edu	37	2	24253872	24253872	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:24253872G>T	ENST00000295148.4	-	4	2154	c.2097C>A	c.(2095-2097)gtC>gtA	p.V699V	C2orf44_ENST00000406895.3_3'UTR	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	699							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGTAAAGACTTTAAGAG	0.468000			T	ALK	NSCLC								11	40					4.68919e-08	4.76322e-08	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25209304	25209304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25209304C>T	ENST00000276440.7	+	27	2856	c.2812C>T	c.(2812-2814)Cgg>Tgg	p.R938W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	938						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AAGGATCAACCGGACAGTGAT	0.537000													4	16					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83636697	83636697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:83636697C>T	ENST00000265362.3	-	10	1426	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G371E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	371	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGGGACTCTTCCTTGATAAGG	0.438000													6	72					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49937160	49937160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49937160G>A	ENST00000257981.6	+	5	942	c.682G>A	c.(682-684)Gat>Aat	p.D228N	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	228					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGCCACCTGGGATGGCTTCAT	0.617000													6	40					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680069	73680069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73680069C>T	ENST00000264448.6	+	8	6523	c.6412C>T	c.(6412-6414)Cct>Tct	p.P2138S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P2138S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2096S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2138	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACAGCTCTTCCTAGTTCCTT	0.413000													8	17					0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350803	134350803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:134350803C>T	ENST00000275230.5	-	2	315	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	54						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCATAACCCACCAGGAGGCCA	0.522000													4	31					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626408	49626408	+	Silent	SNP	G	G	A	rs147442458		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:49626408G>A	ENST00000371571.4	-	2	753	c.468C>T	c.(466-468)atC>atT	p.I156I	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.I156I	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	156						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I156I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTCCTCCGCGATGCCCCAGT	0.662000													5	81					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86559760	86559760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:86559760G>A	ENST00000376344.3	-	3	958	c.742C>T	c.(742-744)Cat>Tat	p.H248Y	C9orf64_ENST00000314700.1_Missense_Mutation_p.H107Y	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	248										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCTCCAAGATGAGCAAGAACC	0.403000													5	48					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962195	165962195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:165962195G>A	ENST00000512596.1	+	3	1187	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TRIM60_ENST00000508504.1_Missense_Mutation_p.R324Q|TRIM60_ENST00000341062.5_Missense_Mutation_p.R324Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	324	B30.2/SPRY.					intracellular	zinc ion binding	p.R324Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGAAAAAAACGAAACATTTGT	0.418000													8	73					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70489977	70489977	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:70489977C>T	ENST00000381280.4	+	11	1357	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SMOC1_ENST00000361956.3_Silent_p.F368F	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	368	EF-hand 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACTGGTATTTCAGCCAGCTGG	0.557000													14	77					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071213	2071213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2071213G>A	ENST00000262113.4	+	29	3683	c.3542G>A	c.(3541-3543)gGa>gAa	p.G1181E	MYOM2_ENST00000523438.1_Missense_Mutation_p.G606E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1181	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle	p.G1181V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGAGAGGGGAATCTGTGAG	0.423000													5	43					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510690	38510690	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38510690C>T	ENST00000263409.4	-	7	1029	c.867G>A	c.(865-867)ttG>ttA	p.L289L	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.L289L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	289					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CAAGATGGATCAAGGGGCAGT	0.363000			T	PLAG1	salivary adenoma								6	25					0	0	1	0	0
PPP2R5E	5529	broad.mit.edu	37	14	64006315	64006315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64006315G>A	ENST00000337537.3	-	2	691	c.89C>T	c.(88-90)tCg>tTg	p.S30L	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S30L|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	30					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GGAACTTTGCGACCTCTTCTG	0.468000													6	84					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348587	3348587	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348587G>A	ENST00000378398.3	+	17	3661	c.3579G>A	c.(3577-3579)ggG>ggA	p.G1193G	PRDM16_ENST00000378391.2_Silent_p.G1193G|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000442529.2_Silent_p.G1192G|PRDM16_ENST00000441472.2_Silent_p.G1192G|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Silent_p.G1193G|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1193	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGACTTTTGGGAAGGGGCTGG	0.532000			T	EVI1	"""MDS, AML"""								7	82					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52553136	52553136	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52553136G>A	ENST00000261839.7	-	10	1397	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	MYO5C_ENST00000443683.2_Silent_p.F355F	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	412	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCCACAATGAAGTCGAACA	0.473000													24	69					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616172	1616172	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1616172C>T	ENST00000381580.1	-	4	902	c.723G>A	c.(721-723)agG>agA	p.R241R	SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Silent_p.R274R			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	274	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGTAGAACTTCCTCACCTGGC	0.547000													11	91					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047130	46047130	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46047130C>T	ENST00000397911.3	+	1	91	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	14						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCGCTTACTCCGACTCCTGGC	0.672000													4	71					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57158499	57158499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57158499G>A	ENST00000376149.3	-	6	894	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	TRIM37_ENST00000393066.3_Missense_Mutation_p.R151C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R117C|TRIM37_ENST00000262294.7_Missense_Mutation_p.R151C			O94972	TRI37_HUMAN	tripartite motif containing 37	151						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGACGCCGACGAAGTTTGGCT	0.333000									Mulibrey Nanism				13	55					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105845060	105845060	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:105845060G>A	ENST00000393127.2	+	16	2879	c.2433G>A	c.(2431-2433)ctG>ctA	p.L811L	GRIA4_ENST00000525187.1_Silent_p.L811L|GRIA4_ENST00000282499.5_Silent_p.L811L|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Silent_p.L811L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	811					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CCTTGAGCCTGAGCAATGTAG	0.473000													5	59					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127298661	127298661	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127298661G>A	ENST00000355552.3	-	3	556	c.180C>T	c.(178-180)ttC>ttT	p.F60F	TPRA1_ENST00000296210.7_Silent_p.F60F|TPRA1_ENST00000450633.2_Silent_p.F60F|TPRA1_ENST00000489960.1_Silent_p.F60F	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	60					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGAGCAGGAAGATGAGGA	0.567000													4	38					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171523556	171523556	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:171523556G>A	ENST00000176763.5	-	8	1222	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	293	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCTGCTGACGAAGGGATGCT	0.627000													10	73					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789439	21789439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21789439G>A	ENST00000206660.6	+	12	1489	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E470K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E497K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E139K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E470K|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	497					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAAACCAAGAAGAAAAGAA	0.408000													3	20					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29848134	29848134	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29848134G>A	ENST00000399218.4	-	6	2383	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	GAREM_ENST00000269209.6_Silent_p.F777F	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGGAGGCAGAGAAGATGTCCT	0.552000													7	30					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919645	142919645	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142919645T>C	ENST00000408947.3	+	1	516	c.474T>C	c.(472-474)ttT>ttC	p.F158F		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	158					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GCTTCAGCTTTCCTCTCTCGA	0.448000													13	44					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934472	30934472	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30934472G>A	ENST00000355537.3	+	2	150	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTTCAGGGATGGAAGAAGCGA	0.587000													18	90					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39661323	39661323	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39661323T>G	ENST00000246635.3	-	1	526	c.480A>C	c.(478-480)gaA>gaC	p.E160D	KRT13_ENST00000587544.1_Missense_Mutation_p.E160D|KRT13_ENST00000336861.3_Missense_Mutation_p.E160D	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	160	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCCGGAGCTCTTCAATGGTCT	0.592000													5	35					0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247759	41247759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41247759C>A	ENST00000446533.3	+	3	891	c.582C>A	c.(580-582)taC>taA	p.Y194*	CHAC1_ENST00000487220.1_De_novo_Start_InFrame|CHAC1_ENST00000444189.2_Nonsense_Mutation_p.Y149*	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	194					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		ACCCTGGTTACCTGGGCCCTG	0.592000													8	110					0.000157383	0.000159302	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240072361	240072361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240072361G>A	ENST00000255380.4	+	5	2389	c.1610G>A	c.(1609-1611)aGc>aAc	p.S537N		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	537					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACATCAACAGCACCGTGAAC	0.483000													7	38					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832816	113832816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113832816C>T	ENST00000393197.2	+	4	755	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	IL1F10_ENST00000341010.2_Missense_Mutation_p.L112F|IL1F10_ENST00000337569.3_Missense_Mutation_p.L112F	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	112						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CGCCTTCAGGCTTGAGGCTGC	0.607000													10	99					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840099	109840099	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109840099G>A	ENST00000357155.1	-	3	424	c.375C>T	c.(373-375)ctC>ctT	p.L125L	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	125	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GCTGCACGCGGAGTTGGTAGC	0.622000													36	586					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659271	144659271	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144659271G>A	ENST00000449291.2	-	5	939	c.645C>T	c.(643-645)ttC>ttT	p.F215F	NAPRT1_ENST00000435154.3_Silent_p.F215F|NAPRT1_ENST00000276844.7_Silent_p.F215F|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Silent_p.F215F			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	215					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAAGTGACGAAGGAGTGGG	0.672000													4	43					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056249	102056249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102056249G>A	ENST00000549145.1	+	20	2210	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	MYBPC1_ENST00000536007.1_Missense_Mutation_p.E672K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E716K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E691K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E691K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E691K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E678K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E665K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E691K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E716K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E592K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E691K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E691K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E677K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E679K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	691	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGTGGCCTATGAGGTCCGCAT	0.468000													6	63					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38803816	38803816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:38803816C>T	ENST00000310803.5	-	8	1132	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RASGRP1_ENST00000539159.1_Missense_Mutation_p.E271K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.E319K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E370K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.E319K|RASGRP1_ENST00000450598.2_Missense_Mutation_p.E319K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	319	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TTATTGATTTCATGTGGGACA	0.498000													3	11					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5489133	5489133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:5489133G>A	ENST00000341928.2	-	2	390	c.50C>T	c.(49-51)gCc>gTc	p.A17V	EPB41L3_ENST00000400111.3_Missense_Mutation_p.A17V|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A17V|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A17V|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A17V	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	17					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGGGGCTCGGCCTCCTGGTC	0.682000													7	48					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40029401	40029401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40029401G>A	ENST00000372857.3	-	12	2297	c.1505C>T	c.(1504-1506)gCt>gTt	p.A502V	PABPC4_ENST00000372862.3_Missense_Mutation_p.A473V|PABPC4_ENST00000372858.3_Missense_Mutation_p.A518V|PABPC4_ENST00000372856.3_Missense_Mutation_p.A489V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	502					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTCTGCACAGCTGTGGGAAC	0.562000													8	85					0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105063332	105063332	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105063332G>A	ENST00000341595.3	-	2	1343	c.438C>T	c.(436-438)ccC>ccT	p.P146P	TMEM179_ENST00000556573.1_Silent_p.P146P	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	transmembrane protein 179	146						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		CGCACCTGTGGGGTACGGTGC	0.657000													5	34					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786387	112786387	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112786387C>T	ENST00000295408.4	+	19	3203	c.2946C>T	c.(2944-2946)ccC>ccT	p.P982P	MERTK_ENST00000421804.2_Silent_p.P982P|MERTK_ENST00000409780.1_Silent_p.P806P			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	982					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCTCATTGCCCGATGAACTTT	0.507000													4	46					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139809070	139809070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139809070C>T	ENST00000303045.6	-	12	2034	c.1588G>A	c.(1588-1590)Ggt>Agt	p.G530S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G530S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	530	Collagen-like 2.|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)			ACCTTTTCACCCTTTTCCCCT	0.463000										HNSCC(7;0.00092)			9	204					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162279982	162279982	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162279982C>T	ENST00000389554.3	+	6	1610	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000410035.1_Silent_p.F144F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	431						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGGCTCTTTCCTGCAGGACC	0.726000													8	23					0	0	1	0	0
TRBV6-1	28606	broad.mit.edu	37	7	142028365	142028365	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142028365G>A	ENST00000390353.2	+	0	156																											AGGTCCTGAAGACAGGACAGA	0.507000													14	70					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52716050	52716050	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52716050C>T	ENST00000322088.6	+	5	673	c.615C>T	c.(613-615)atC>atT	p.I205I	PPP2R1A_ENST00000462990.1_Silent_p.I26I|PPP2R1A_ENST00000444322.2_Silent_p.I150I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	205	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGAGTGAGATCATCCCCATGT	0.597000			Mis		clear cell ovarian carcinoma								18	128					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969055	106969055	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:106969055G>A	ENST00000369066.3	+	2	3235	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	916							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACTCCAGTTTGAAAAGTCCAA	0.423000													4	58					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888493	12888493	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12888493C>A	ENST00000535591.1	-	2	226	c.31G>T	c.(31-33)Gcc>Tcc	p.A11S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	11										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGCTTCAGGGCCTCACAGCGT	0.627000													5	112					0.00198382	0.00200317	1	1	0
NEBL	10529	broad.mit.edu	37	10	21101837	21101837	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:21101837C>T	ENST00000377122.4	-	24	2775	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K	NEBL_ENST00000417816.2_Silent_p.K130K|NEBL_ENST00000377159.4_Silent_p.K96K	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	793					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCTCTCCCCTTTGTTTTTT	0.423000													3	11					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21086928	21086928	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:21086928T>A	ENST00000395511.3	+	4	651	c.331T>A	c.(331-333)Ttg>Atg	p.L111M	DHRS7B_ENST00000579303.1_Missense_Mutation_p.L96M	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	111						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CAAGCCTTACTTGGTGACCTT	0.502000													4	31					0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2434083	2434083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2434083G>A	ENST00000325327.3	-	8	1285	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	LMNB2_ENST00000582871.1_Missense_Mutation_p.P388L			Q03252	LMNB2_HUMAN	lamin B2	388	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGAGGATGGGCTGGGGGA	0.706000													4	43					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022884	62022884	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62022884A>G	ENST00000578147.1	-	19	3632	c.3556T>C	c.(3556-3558)Ttc>Ctc	p.F1186L	SCN4A_ENST00000435607.1_Missense_Mutation_p.F1186L			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1186					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGTAGTAGAACTTGCCGGCA	0.547000													17	315					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074128	34074128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34074128C>T	ENST00000254466.6	-	5	1019	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R315Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	331					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAGCCTTCGGTCTGAAGA	0.632000													17	65					0	0	1	0	0
EYA3	2140	broad.mit.edu	37	1	28339627	28339627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:28339627G>A	ENST00000373871.3	-	9	1004	c.764C>T	c.(763-765)tCc>tTc	p.S255F	EYA3_ENST00000436342.2_Missense_Mutation_p.S129F|EYA3_ENST00000545175.1_Missense_Mutation_p.S202F|EYA3_ENST00000540618.1_Missense_Mutation_p.S209F|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.S209F|EYA3_ENST00000373864.1_Missense_Mutation_p.S99F			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	255					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTTACCAGAGGAAAGTCTCTG	0.473000													8	56					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96178610	96178610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96178610C>T	ENST00000402399.1	-	2	373	c.244G>A	c.(244-246)Gga>Aga	p.G82R	TCL1A_ENST00000554012.1_Missense_Mutation_p.G82R|TCL1A_ENST00000555202.1_Missense_Mutation_p.G82R|TCL1A_ENST00000556450.1_Missense_Mutation_p.G82R|RP11-164H13.1_ENST00000547644.2_RNA|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	82					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGGTATCGTCCATCAGGGTAG	0.577000			T	TRA@	T-CLL								11	133					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20225193	20225193	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:20225193G>A	ENST00000412997.1	-	3	597	c.246C>T	c.(244-246)atC>atT	p.I82I	SGOL1_ENST00000443724.1_Silent_p.I82I|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Silent_p.I82I|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Silent_p.I82I|SGOL1_ENST00000306698.2_Silent_p.I82I|SGOL1_ENST00000383774.1_Silent_p.I82I|SGOL1_ENST00000263753.4_Silent_p.I82I|SGOL1_ENST00000425061.1_Silent_p.I82I|SGOL1_ENST00000442720.1_Silent_p.I82I|SGOL1_ENST00000412868.1_Silent_p.I82I|SGOL1_ENST00000421451.1_Silent_p.I82I|SGOL1_ENST00000417364.1_Silent_p.I82I|SGOL1_ENST00000437051.1_Silent_p.I82I|SGOL1_ENST00000452020.1_Silent_p.I82I	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	82	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TCAGCTGTAGGATGATATCTT	0.343000													10	54					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599268	29599268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:29599268G>A	ENST00000431530.3	+	1	521	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	145						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						GGCCAGTCTAGACGTTTTGGC	0.512000													15	58					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3527037	3527037	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3527037C>T	ENST00000441788.2	+	6	683	c.447C>T	c.(445-447)tcC>tcT	p.S149S	FZR1_ENST00000395095.3_Silent_p.S149S|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	149					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCTACTCCCTGTCTCCCG	0.642000													19	59					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	C	T	rs148726153		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2367371C>T	ENST00000301732.5	-	10	1724	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D342N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	342					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)				AGGGAGGGGTCGCTGCGGGAC	0.622000													11	92					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1488260	1488260	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1488260G>A	ENST00000297508.7	-	3	505	c.330C>T	c.(328-330)tcC>tcT	p.S110S	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	110						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ACTCACTGGGGGAGCGGCCGT	0.647000													9	112					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104004	55104004	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55104004C>T	ENST00000491143.2	+	1	1088	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	352					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACAGTATCCCCCAGGCGATCT	0.607000													6	54					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44064824	44064824	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44064824A>G	ENST00000262726.7	-	16	1995	c.1742T>C	c.(1741-1743)cTt>cCt	p.L581P	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L429P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTTGGAACAAGAACTGGAGA	0.403000													12	47					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049224	70049224	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:70049224C>T	ENST00000330891.5	-	10	1696	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.V384V|BEST3_ENST00000488961.1_Silent_p.V277V	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	490						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGGAAGTTCTCACACTGGACT	0.562000													6	28					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12170185	12170185	+	Silent	SNP	C	C	T	rs145520020	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12170185C>T	ENST00000263932.2	+	6	822	c.600C>T	c.(598-600)ctC>ctT	p.L200L	TNFRSF8_ENST00000417814.2_Silent_p.L89L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	200					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCCGCCTCGCCCAGGAAG	0.627000													15	61					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726336	73726336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73726336G>A	ENST00000200181.3	+	8	940	c.753G>A	c.(751-753)tgG>tgA	p.W251*	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.W251*|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.W251*|ITGB4_ENST00000449880.2_Nonsense_Mutation_p.W251*|ITGB4_ENST00000339591.3_Nonsense_Mutation_p.W251*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	251	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACATTGGCTGGCGCCCGGACA	0.662000													5	43					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361760	51361760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51361760C>T	ENST00000360617.3	+	4	539	c.539C>T	c.(538-540)tCc>tTc	p.S180F	KLK3_ENST00000593997.1_Missense_Mutation_p.S180F|KLK3_ENST00000597483.1_Missense_Mutation_p.S137F|KLK3_ENST00000595952.1_Missense_Mutation_p.S137F|KLK3_ENST00000326003.2_Missense_Mutation_p.S180F			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	180	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CATGTTATTTCCAATGACGTG	0.547000													6	142					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126056250	126056250	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:126056250G>A	ENST00000318410.7	-	22	3103	c.2754C>T	c.(2752-2754)ccC>ccT	p.P918P	KIAA0196_ENST00000517845.1_Silent_p.P770P|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	918					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACTTTTTAGGGGACTGACAG	0.378000													4	10					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804332	125804332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125804332G>A	ENST00000346248.5	-	3	1292	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CHST15_ENST00000435907.1_Missense_Mutation_p.S217F|CHST15_ENST00000421115.1_Missense_Mutation_p.S217F	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	217					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GAGCACGTAGGAGTTGGTGAG	0.602000													7	35					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840332	27840332	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:27840332C>T	ENST00000356790.2	+	3	1154	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	303	MAGE.							p.F303L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCAGTGAATTCTCAAACTGGT	0.498000													3	10					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514855	233514855	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233514855C>T	ENST00000366624.3	+	9	2364	c.2103C>T	c.(2101-2103)tcC>tcT	p.S701S	MLK4_ENST00000366622.1_Silent_p.S147S	NM_032435.2	NP_115811.2																					CCACAGTCTCCATTGAGATGA	0.527000													6	45					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333050	42333050	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42333050G>A	ENST00000262418.6	-	14	1946	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	597	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTTGCCAGGGAAATAGGAGC	0.587000													4	75					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685344	125685344	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685344G>A	ENST00000371126.1	-	1	1490	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	416										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AATTCACCCAGAAATCATTGT	0.567000													8	72					0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67220542	67220542	+	Missense_Mutation	SNP	G	G	A	rs145228772		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67220542G>A	ENST00000314586.6	-	8	1543	c.1303C>T	c.(1303-1305)Cgt>Tgt	p.R435C		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	435					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTGGCCACACGAATGTTCTCT	0.582000													6	73					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14613944	14613944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:14613944C>T	ENST00000403951.2	-	20	2085	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	DGKB_ENST00000402815.1_Missense_Mutation_p.E555K|DGKB_ENST00000399322.3_Missense_Mutation_p.E556K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.E556K|DGKB_ENST00000407950.1_Missense_Mutation_p.E548K|DGKB_ENST00000444700.2_Missense_Mutation_p.E537K|DGKB_ENST00000406247.3_Missense_Mutation_p.E556K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	556	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|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AACATGATTTCTGTGCTGTTT	0.348000													12	109					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43058182	43058182	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43058182G>A	ENST00000316099.3	+	10	1391	c.1302G>A	c.(1300-1302)caG>caA	p.Q434Q	HNF4A_ENST00000457232.1_Silent_p.Q402Q|HNF4A_ENST00000415691.1_Silent_p.Q424Q	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	434					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACCCCACAGCCCTCACCGC	0.607000													22	323					0	0	1	0	0
YIF1B	90522	broad.mit.edu	37	19	38798389	38798389	+	Silent	SNP	G	G	A	rs143345887	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38798389G>A	ENST00000392124.3	-	5	764	c.450C>T	c.(448-450)ttC>ttT	p.F150F	YIF1B_ENST00000592246.1_Silent_p.F115F|YIF1B_ENST00000592694.1_Silent_p.F150F|YIF1B_ENST00000591784.1_Silent_p.F150F|YIF1B_ENST00000339413.6_Silent_p.F181F|YIF1B_ENST00000337679.8_Silent_p.F178F|YIF1B_ENST00000591755.1_Silent_p.F178F|YIF1B_ENST00000329420.8_Silent_p.F166F	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	181						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTCTGGGGAGAACCTGCAGG	0.642000													4	43					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12557622	12557622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12557622C>T	ENST00000358136.3	+	68	12861	c.12731C>T	c.(12730-12732)tCt>tTt	p.S4244F	VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543766.1_Missense_Mutation_p.S242F|VPS13D_ENST00000543710.1_Missense_Mutation_p.S48F|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.S4219F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4243					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCCGATATTCTGAGAGCCAG	0.542000													21	55					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78147750	78147750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:78147750G>A	ENST00000281038.5	-	14	1775	c.1400C>T	c.(1399-1401)cCt>cTt	p.P467L	RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Missense_Mutation_p.P240L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	467					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CCTTGGGAAAGGGATAACATC	0.463000													8	111					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151356784	151356784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151356784G>A	ENST00000535741.1	-	46	7471	c.6998C>T	c.(6997-6999)tCc>tTc	p.S2333F	LRBA_ENST00000357115.3_Missense_Mutation_p.S2344F|LRBA_ENST00000510413.1_Missense_Mutation_p.S2333F|LRBA_ENST00000507224.1_Missense_Mutation_p.S2333F|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2344	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCAAGCTCTGGAAATTGATGA	0.333000													4	38					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4057515	4057515	+	Missense_Mutation	SNP	G	G	A	rs144065949	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4057515G>A	ENST00000294016.3	-	3	2276	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	580					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGCTGCAGCGAGACTCCTTG	0.522000													16	51					0	0	1	0	0
DPPA4	55211	broad.mit.edu	37	3	109046861	109046861	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:109046861A>G	ENST00000335658.6	-	7	943	c.889T>C	c.(889-891)Tta>Cta	p.L297L		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	297						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CTTTTTATTAAGACCTTGTTC	0.353000													11	134					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51488324	51488324	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:51488324C>T	ENST00000340438.4	+	1	1844	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	534					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACAAATCCATCATCTGCCCAG	0.403000													10	36					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134076145	134076145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134076145G>A	ENST00000264360.4	+	3	3590	c.2764G>A	c.(2764-2766)Gat>Aat	p.D922N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	922					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGAGATAGTGATCATGATGC	0.398000													4	68					0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625320	73625320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73625320G>A	ENST00000317905.5	-	16	2342	c.2183C>T	c.(2182-2184)cCt>cTt	p.P728L	RECQL5_ENST00000423245.2_Missense_Mutation_p.P701L|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	728					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTCTTCTCAGGGGAGGGCCC	0.652000								Other identified genes with known or suspected DNA repair function					6	38					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37464711	37464711	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37464711C>T	ENST00000381792.2	-	17	2264	c.2124G>A	c.(2122-2124)gcG>gcA	p.A708A	TMPRSS6_ENST00000406856.1_Silent_p.A708A|TMPRSS6_ENST00000406725.1_Intron|TMPRSS6_ENST00000346753.3_Intron			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	714	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ccacagcatccgcccgtaggg	0.488000													8	47					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75403355	75403355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:75403355G>A	ENST00000297784.5	+	14	1525	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	TMC1_ENST00000340019.3_Missense_Mutation_p.E329K|TMC1_ENST00000396237.3_Missense_Mutation_p.E329K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	329					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CGGCAATCCTGAAACAGCAGA	0.393000													4	25					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46808539	46808539	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46808539G>A	ENST00000339613.2	+	3	342	c.87G>A	c.(85-87)ctG>ctA	p.L29L	HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000377670.4_Silent_p.L85L|HIF3A_ENST00000300862.3_Silent_p.L83L|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000472815.1_Intron			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	85	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GAGAACCACTGGATGCCTGCT	0.607000													8	115					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042544	60042544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60042544G>A	ENST00000397786.2	-	20	4743	c.4667C>T	c.(4666-4668)cCt>cTt	p.P1556L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1556	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAACGAAGGTAGTTTATT	0.428000													13	93					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891227	29891227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29891227G>A	ENST00000308713.5	-	9	2058	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P397S|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P441S|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P467S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	511	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTTCTGTGGGATCCACACAT	0.627000													30	164					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76054470	76054470	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76054470G>A	ENST00000336517.4	+	2	382	c.36G>A	c.(34-36)ggG>ggA	p.G12G	ZP3_ENST00000394857.3_Silent_p.G63G	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	63					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TTGGCACCGGGAAGCTCATCA	0.587000													4	23					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57752293	57752293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57752293G>A	ENST00000360716.3	+	9	1333	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	CCDC135_ENST00000336825.8_Nonsense_Mutation_p.W306*|CCDC135_ENST00000394337.4_Nonsense_Mutation_p.W371*			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	371						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGTGAGATGGGAGTACATG	0.527000													11	133					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749972	24749972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:24749972C>T	ENST00000545231.1	-	8	1391	c.241G>A	c.(241-243)Gag>Aag	p.E81K	DFNA5_ENST00000409775.3_Missense_Mutation_p.E245K|DFNA5_ENST00000342947.3_Missense_Mutation_p.E245K|DFNA5_ENST00000409970.1_Missense_Mutation_p.E81K|DFNA5_ENST00000419307.1_Missense_Mutation_p.E81K|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	245					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TTCTTGTTCTCGAAGCCACCT	0.488000													14	62					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331704	107331704	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:107331704C>T	ENST00000335040.1	+	1	256	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGCCAGCTTTCTGGCAGTAAA	0.468000													14	102					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100612548	100612548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100612548G>A	ENST00000308731.7	-	13	1289	c.1126C>T	c.(1126-1128)Cca>Tca	p.P376S	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	376	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGAGACACTGGATATTTGAGC	0.498000									Agammaglobulinemia, X-linked				6	27					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784872	129784872	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129784872G>A	ENST00000358825.5	-	18	2811	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	PRDM10_ENST00000304538.6_Silent_p.F770F|PRDM10_ENST00000423662.2_Silent_p.F774F|PRDM10_ENST00000528746.1_Silent_p.F830F|PRDM10_ENST00000526082.1_Silent_p.F774F|PRDM10_ENST00000360871.3_Silent_p.F856F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F856F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGAGCTGGGCGAACTCTGGAT	0.468000													7	84					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98453715	98453715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98453715C>T	ENST00000450876.1	-	4	1706	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	TMEM130_ENST00000339375.4_Missense_Mutation_p.E215K|TMEM130_ENST00000345589.4_Missense_Mutation_p.E113K|TMEM130_ENST00000546258.1_Missense_Mutation_p.E196K|TMEM130_ENST00000416379.2_Missense_Mutation_p.E215K			Q8N3G9	TM130_HUMAN	transmembrane protein 130	215						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCACCTCTTCCCACTCCGCC	0.577000													4	50					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804674	43804674	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43804674C>T	ENST00000243924.3	+	2	299	c.252C>T	c.(250-252)gcC>gcT	p.A84A		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TCCGGTGCGCCATGTTGAATC	0.512000													9	43					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23900866	23900866	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23900866G>A	ENST00000355349.3	-	8	822	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	220	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTGGATGATCTGGTCCT	0.627000													5	93					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40746009	40746009	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40746009G>A	ENST00000392038.2	-	7	880	c.582C>T	c.(580-582)gtC>gtT	p.V194V	AKT2_ENST00000579047.1_Silent_p.V132V|AKT2_ENST00000424901.1_Silent_p.V194V|AKT2_ENST00000311278.6_Silent_p.V194V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	194	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTGTGTGAGCGACTTCATCCT	0.622000			A		"""ovarian, pancreatic """								40	249					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270122	36270122	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36270122C>T	ENST00000394571.2	+	6	1260	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	PNPLA1_ENST00000312917.5_Silent_p.P334P|PNPLA1_ENST00000388715.3_Silent_p.P325P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	420	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTCAGGCACCCACTTCACCCA	0.607000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	71					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200950209	200950209	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200950209C>T	ENST00000332129.2	-	28	4135	c.3819G>A	c.(3817-3819)ccG>ccA	p.P1273P	KIF21B_ENST00000461742.2_Silent_p.P1286P|KIF21B_ENST00000360529.5_Silent_p.P1273P|KIF21B_ENST00000422435.2_Silent_p.P1286P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1286					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTCCAACCGGGGAGATGA	0.637000													9	57					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195953991	195953991	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195953991G>A	ENST00000296327.5	+	3	497		c.e3+1			NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		GGCACCCACGGTGAGGCCCCC	0.577000													5	65					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20824111	20824111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20824111C>T	ENST00000527915.1	+	11	1066	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	PARP2_ENST00000429687.3_Missense_Mutation_p.P341L|PARP2_ENST00000250416.5_Missense_Mutation_p.P354L			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	354					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CTACAAAGCCCAGAACACCCA	0.403000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	59					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33060542	33060542	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:33060542G>T	ENST00000397149.3	-	6	721	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	SMU1_ENST00000536631.1_Missense_Mutation_p.P63Q	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	224						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGACCATCTGGAGAAAATCG	0.348000													3	23					1	1	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12460290	12460290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12460290C>T	ENST00000358136.3	+	61	11817	c.11687C>T	c.(11686-11688)cCc>cTc	p.P3896L	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3871L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3895					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATGTGACTCCCCTGAGCAAT	0.512000													11	76					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913531	77913531	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:77913531G>A	ENST00000321110.1	-	2	682	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	129	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGATCTCATGGGCCATTGGAG	0.632000													4	8					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115143572	115143572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115143572C>T	ENST00000393274.1	-	14	2450	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	DENND2C_ENST00000393276.3_Missense_Mutation_p.E552K|DENND2C_ENST00000393277.1_Missense_Mutation_p.E609K|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	609	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		TTCTCTACTTCATCCAGAATC	0.403000													5	45					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005663	25005663	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25005663G>A	ENST00000382114.4	-	8	1233	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	350						extracellular region		p.L350L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ACTGTGGACAGACCAGCCTTT	0.478000													6	29					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848925	73848925	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73848925G>A	ENST00000523207.1	+	3	1923	c.1335G>A	c.(1333-1335)agG>agA	p.R445R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	445					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGCCAAAAGGAACGGAAGCA	0.448000													13	57					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687489	130687489	+	Missense_Mutation	SNP	G	G	A	rs145403966		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130687489G>A	ENST00000388747.4	-	9	858	c.814C>T	c.(814-816)Ctc>Ttc	p.L272F	PIP5KL1_ENST00000300432.3_Missense_Mutation_p.L69F|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	272	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						AGCTCCCGGAGGAAGGTGGTA	0.642000													6	69					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508041	26508041	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:26508041T>C	ENST00000376261.3	+	4	859	c.356T>C	c.(355-357)cTt>cCt	p.L119P	GAD2_ENST00000376248.1_Missense_Mutation_p.L5P|GAD2_ENST00000259271.3_Missense_Mutation_p.L119P	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	119					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AACATTTTACTTCAGTATGTG	0.383000													4	61					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449821	158449821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158449821C>T	ENST00000368152.1	+	1	154	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGTAGTTTTTCTTTTTCTGTA	0.438000													7	23					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211163214	211163214	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:211163214G>A	ENST00000352451.3	-	3	381	c.234C>T	c.(232-234)gtC>gtT	p.V78V	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Silent_p.V34V	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	78	EF-hand 1.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GAGCTCGAAGGACATCACCGA	0.468000													4	17					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570385	47570385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47570385G>A	ENST00000253048.5	-	15	3177	c.3140C>T	c.(3139-3141)tCt>tTt	p.S1047F	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1047							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GAGGATGCGAGACAGAAGTTC	0.706000													11	33					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151681498	151681498	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151681498G>A	ENST00000290583.4	-	5	1255	c.462C>T	c.(460-462)acC>acT	p.T154T	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.T154T	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	154	RRM 2.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						TGCTGTGAAGGGTGTTGATGG	0.677000													6	62					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140406788	140406788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:140406788G>A	ENST00000286349.3	+	3	1455	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	422						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAGTGAACGAGATGGATGG	0.478000													4	12					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461501	11461501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11461501C>T	ENST00000279575.1	-	3	449	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PRB4_ENST00000535904.1_Missense_Mutation_p.G139E|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	202	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 allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTCTGGCTTTCCTGGAGGAGG	0.602000										HNSCC(22;0.051)			19	165					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318740	31318740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:31318740G>A	ENST00000269197.5	+	11	1372	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAGAAGAGGTAGAGACTAG	0.388000													6	34					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301609	11301609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:11301609G>A	ENST00000397056.1	+	3	1077	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	HRH1_ENST00000438284.2_Missense_Mutation_p.E296K|HRH1_ENST00000431010.2_Missense_Mutation_p.E296K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	296					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGATGATAGAGAAGTAGACAA	0.512000													4	73					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130257	19130257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19130257G>A	ENST00000252137.6	-	2	329	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	96					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGGGGCTCCCGGGACATCTTG	0.587000													10	133					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44190569	44190569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44190569C>T	ENST00000403799.3	-	4	938	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	GCK_ENST00000395796.3_Missense_Mutation_p.E156K|GCK_ENST00000345378.2_Missense_Mutation_p.E158K|GCK_ENST00000437084.1_Missense_Mutation_p.E140K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	157					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.E158K(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCGATGTCTTCGTGCCTCACA	0.567000													20	359					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424577	91424577	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91424577C>T	ENST00000268171.3	+	16	2133	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	618	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTCCAGGGTTCGCCCCCCAAG	0.632000													134	286					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813268	237813268	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237813268T>G	ENST00000366574.2	+	50	7921	c.7604T>G	c.(7603-7605)tTt>tGt	p.F2535C	RYR2_ENST00000360064.6_Missense_Mutation_p.F2533C|RYR2_ENST00000542537.1_Missense_Mutation_p.F2519C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2535	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTCCTCTCTTTGCTGGCACA	0.483000													17	97					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505314	26505314	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26505314G>C	ENST00000244513.6	+	3	655	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	197	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCTGATGAAGAAGGTTTGTT	0.498000													7	60					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109521	101109521	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101109521G>A	ENST00000314742.8	-	7	2418	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	732										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GATTATATGGGAAAAGATTTT	0.318000													5	52					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35944601	35944601	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35944601C>T	ENST00000325722.3	-	4	1113	c.879G>A	c.(877-879)caG>caA	p.Q293Q		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	293						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGAAAGAGGCCTGGGGGGTAG	0.488000													11	87					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47202212	47202212	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47202212C>T	ENST00000319190.5	+	4	986	c.618C>T	c.(616-618)atC>atT	p.I206I	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.I206I|TTC7A_ENST00000409245.1_Silent_p.I172I|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	206							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGGATCGCTCAGGTGT	0.547000													7	119					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124248979	124248979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124248979C>T	ENST00000368984.3	+	3	742	c.614C>T	c.(613-615)tCt>tTt	p.S205F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	205	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GCTAGTGGGTCTGGGTTTATT	0.493000													6	115					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023098	17023098	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17023098C>T	ENST00000492551.1	-	0	1765					NR_026567.1																						AACCAAGCTTCCGTTGAGCAG	0.687000													3	10					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284534	45284534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45284534G>A	ENST00000270279.3	+	3	634	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	CBLC_ENST00000341505.4_Missense_Mutation_p.A191T	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	191	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGGCTGCACAGCCCTGGCCTT	0.642000			M		AML								72	536					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070567	9070567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9070567C>T	ENST00000397910.4	-	3	17082	c.16879G>A	c.(16879-16881)Gaa>Aaa	p.E5627K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5629	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTGGTTTCTTCCACAGGG	0.532000													3	13					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713474	44713474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44713474C>T	ENST00000222673.5	+	6	764	c.722C>T	c.(721-723)cCt>cTt	p.P241L	OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000447398.1_Missense_Mutation_p.P252L|OGDH_ENST00000449767.1_Missense_Mutation_p.P237L|OGDH_ENST00000443864.2_Missense_Mutation_p.P241L|OGDH_ENST00000543843.1_Missense_Mutation_p.P192L|OGDH_ENST00000444676.1_Missense_Mutation_p.P256L|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	241					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTTGAGACCCCTGGGATCATG	0.557000													4	100					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585532	32585532	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32585532T>A	ENST00000341377.5	+	6	1085	c.568T>A	c.(568-570)Tgt>Agt	p.C190S	NRG1_ENST00000287840.5_Missense_Mutation_p.C190S|NRG1_ENST00000520502.2_Missense_Mutation_p.C245S|NRG1_ENST00000519301.1_Missense_Mutation_p.C135S|NRG1_ENST00000523079.1_Missense_Mutation_p.C190S|NRG1_ENST00000521670.1_Missense_Mutation_p.C190S|NRG1_ENST00000356819.4_Missense_Mutation_p.C190S|NRG1_ENST00000539990.1_Missense_Mutation_p.C36S|NRG1_ENST00000287842.3_Missense_Mutation_p.C190S|NRG1_ENST00000338921.4_Missense_Mutation_p.C190S|NRG1_ENST00000520407.1_Missense_Mutation_p.C371S|NRG1_ENST00000405005.2_Missense_Mutation_p.C190S|NRG1_ENST00000287845.5_Missense_Mutation_p.C156S			Q02297	NRG1_HUMAN	neuregulin 1	190	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.C190G(2)|p.C245G(1)|p.C371G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAAAACTTTCTGTGTGAATGG	0.438000													8	51					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97221461	97221461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97221461C>T	ENST00000375344.3	+	12	1557	c.1288C>T	c.(1288-1290)Ccg>Tcg	p.P430S	HIATL1_ENST00000428393.2_3'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	430					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CATCCCAGGCCCGCCGTTTTT	0.388000													4	47					0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34984006	34984006	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:34984006C>T	ENST00000590071.2	+	3	1171	c.834C>T	c.(832-834)ttC>ttT	p.F278F	WTIP_ENST00000270288.6_Silent_p.F502F	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			AGGAGGACTTCCTGGTGAGTC	0.627000													15	94					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25049707	25049707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:25049707G>A	ENST00000381989.3	-	15	1922	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	606					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGTGCTGCTGGAAGTTTTGGC	0.438000													12	54					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77973170	77973170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:77973170C>T	ENST00000354212.4	-	9	1586	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	MAGI2_ENST00000536571.1_Missense_Mutation_p.E277K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E445K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E282K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E445K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	445	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCAGGCTCGTCTCCACCA	0.478000													6	42					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421878	105421878	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105421878G>A	ENST00000333244.5	-	5	527	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	136	PDZ.					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)			GCTTGACGAAGATCCCCTGGT	0.582000													10	65					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52552738	52552738	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52552738G>A	ENST00000321725.6	+	48	4963		c.e48-1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTCTGCTCCAGGATGAGCTGG	0.701000													4	19					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200031	66200031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:66200031C>T	ENST00000360689.5	+	10	3069	c.1342C>T	c.(1342-1344)Cgt>Tgt	p.R448C	FUT8_ENST00000557164.1_Missense_Mutation_p.R285C|FUT8_ENST00000417683.1_Missense_Mutation_p.R42C|FUT8_ENST00000394585.1_Missense_Mutation_p.R448C|FUT8_ENST00000358307.2_Missense_Mutation_p.R319C|FUT8_ENST00000394586.2_Missense_Mutation_p.R448C	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	448					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAATTCACTTCGTGGAGTGAT	0.368000													5	41					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272679	52272679	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52272679C>T	ENST00000598776.1	+	2	1540	c.768C>T	c.(766-768)ccC>ccT	p.P256P	FPR2_ENST00000340023.6_Silent_p.P256P|FPR2_ENST00000598953.1_Silent_p.P256P	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	256					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTTGGTTTCCCTTTCAACTGG	0.488000													7	37					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091517	9091517	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9091517T>C	ENST00000397910.4	-	1	501	c.298A>G	c.(298-300)Aga>Gga	p.R100G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	100	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCTGGTTCTTTGCTCGGAG	0.537000													6	84					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899620	114899620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114899620G>A	ENST00000315366.7	-	1	1237	c.371C>T	c.(370-372)cCa>cTa	p.P124L	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.P124L	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	124						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ACTCCTGGATGGTGTGCAAAT	0.403000													9	49					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228484	39228484	+	Missense_Mutation	SNP	C	C	T	rs145488377	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39228484C>T	ENST00000340369.3	-	2	2681	c.2453G>A	c.(2452-2454)cGa>cAa	p.R818Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R818Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	818							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTCCTTTCGTATATAAGG	0.617000													14	70					0	0	1	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337387	22337387	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22337387G>A	ENST00000390436.2	+	0	201																											GCAAGAACTTGGAAAAGGACC	0.428000													6	105					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267526	71267526	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71267526T>C	ENST00000554752.2	-	2	677	c.678A>G	c.(676-678)ggA>ggG	p.G226G	MAP3K9_ENST00000555993.2_Silent_p.G226G|MAP3K9_ENST00000381250.4_Silent_p.G226G			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	226	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TATTCAAAGGTCCTCCACGAG	0.507000													5	59					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668863	53668863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53668863C>T	ENST00000600412.1	-	2	800	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	ZNF665_ENST00000396424.3_Missense_Mutation_p.E294K			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCCACATTCCTTACATTTG	0.408000													8	152					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920702	227920702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227920702G>A	ENST00000396625.3	-	30	2882	c.2675C>T	c.(2674-2676)cCc>cTc	p.P892L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P892L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	892	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCTCCAAAGGGACCTGGGAT	0.592000													10	42					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82074833	82074833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:82074833C>T	ENST00000395578.1	-	7	1071	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	PRKG2_ENST00000264399.1_Missense_Mutation_p.E319K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.E319K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	319					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTACTTCCTTCCTCGCCCTCT	0.343000													4	20					0	0	1	0	0
APOBEC3A	200315	broad.mit.edu	37	22	39355623	39355623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39355623G>A	ENST00000402255.1	+	3	310	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	APOBEC3A_ENST00000249116.2_Missense_Mutation_p.E36K					apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5	Melanoma(58;0.04)					CCTGTGCTACGAAGTGGAGCG	0.537000													11	70					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101693824	101693824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101693824G>A	ENST00000261637.4	+	14	1834	c.1660G>A	c.(1660-1662)Gga>Aga	p.G554R		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	554					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTTGACAAAGGAAGCTTTGG	0.418000													5	101					0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407153	37407153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37407153G>A	ENST00000403892.3	-	2	1543	c.809C>T	c.(808-810)gCc>gTc	p.A270V	TST_ENST00000249042.3_Missense_Mutation_p.A270V	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	270	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ATCGTACACGGCCACATCAGG	0.642000													11	43					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863957	6863957	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6863957C>T	ENST00000307659.5	+	7	2303	c.1848C>T	c.(1846-1848)ccC>ccT	p.P616P	KIAA0232_ENST00000425103.1_Silent_p.P616P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	616							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GACTCTCTCCCATCTTAGACA	0.463000													4	18					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994898	108994898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:108994898G>A	ENST00000272452.2	+	1	431	c.105G>A	c.(103-105)tgG>tgA	p.W35*	SULT1C4_ENST00000409309.3_Nonsense_Mutation_p.W35*	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	35					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GTGACATCTGGGATAAGATCT	0.473000													21	126					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73748623	73748623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73748623C>T	ENST00000200181.3	+	32	4260	c.4073C>T	c.(4072-4074)tCg>tTg	p.S1358L	ITGB4_ENST00000579662.1_Missense_Mutation_p.S1358L|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1358L|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1358L|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1358L|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1358					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCTCTCCATCGGGCAGCCAG	0.602000													16	129					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696236	10696236	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:10696236G>A	ENST00000302079.6	-	43	6686	c.6687C>T	c.(6685-6687)gtC>gtT	p.V2229V	PIEZO2_ENST00000580640.1_Silent_p.V2254V|PIEZO2_ENST00000285141.4_Silent_p.V84V|PIEZO2_ENST00000503781.3_Silent_p.V2229V|PIEZO2_ENST00000538948.1_Silent_p.V186V			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2229						integral to membrane	ion channel activity										ACGGCCCCGGGACCTGGTCCT	0.532000													8	32					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65330538	65330538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65330538G>A	ENST00000342505.4	-	8	1356	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	370	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GTGATTTCAGGGAAGTAAGAA	0.378000			Mis		ALL								4	33					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47249063	47249063	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47249063C>T	ENST00000319190.5	+	12	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	TTC7A_ENST00000263737.6_Silent_p.F131F|TTC7A_ENST00000394850.2_Silent_p.F485F|TTC7A_ENST00000409245.1_Silent_p.F451F|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	485							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGGGGAGTTCCTCCCCAAGG	0.612000													5	84					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44105088	44105088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:44105088C>T	ENST00000263776.8	+	14	1803	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	457							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.R457C(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGGTTGGTTTCGCTTTGTCTT	0.567000													8	62					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10059173	10059173	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:10059173C>T	ENST00000263663.5	+	13	1463	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	TAF1B_ENST00000396242.3_Silent_p.Y170Y	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	425					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGTACAGGTACCTGTGGAAAA	0.368000													9	55					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140579977C>T	ENST00000354757.3	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000													8	34					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11911634	11911634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11911634C>T	ENST00000256720.2	+	4	518	c.425C>T	c.(424-426)cCc>cTc	p.P142L	LPIN1_ENST00000425416.2_Missense_Mutation_p.P148L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P148L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P191L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P148L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	142					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P142L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GTGATCGCTCCCAGCGAGACG	0.537000													7	44					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103041538	103041538	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:103041538C>T	ENST00000418604.1	+	4	616	c.336C>T	c.(334-336)ggC>ggT	p.G112G	PLP1_ENST00000303958.2_Silent_p.G112G|PLP1_ENST00000361621.2_Silent_p.G112G	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	112					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GCGGCAAGGGCCTGAGCGCAA	0.582000													12	53					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144911926	144911926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:144911926G>A	ENST00000529945.1	-	12	3111	c.2672C>T	c.(2671-2673)tCa>tTa	p.S891L	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S728L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S865L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S865L|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.S515L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S794L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S728L|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.S728L|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.S728L|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S891L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	728					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCAGTCAATGAAGTGCTATC	0.378000			T	PDGFRB	MPD								4	70					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36973614	36973614	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36973614G>A	ENST00000274963.8	+	1	192	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	7					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAAGTGAGGAGAAGCTGGCAT	0.617000													4	42					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50731719	50731719	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:50731719C>T	ENST00000442544.2	+	10	2323	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S	DCC_ENST00000412726.1_Silent_p.S417S|DCC_ENST00000581580.1_Silent_p.S224S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	569	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGGTGTCCACAGGAAAAG	0.473000													5	38					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100204051	100204051	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100204051A>G	ENST00000355295.4	+	6	1044	c.749A>G	c.(748-750)aAt>aGt	p.N250S	TDRD7_ENST00000422139.2_Missense_Mutation_p.N176S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	250	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAGCATAACAATGGCATTTGG	0.343000													4	4					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78162232	78162232	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78162232G>A	ENST00000573882.1	+	7	1268	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CARD14_ENST00000570421.1_Silent_p.L244L|CARD14_ENST00000344227.2_Silent_p.L244L|CARD14_ENST00000392434.2_Silent_p.L7L|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	244					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGTGAGCTGGAATTGCAAG	0.587000													13	27					0	0	1	0	0
HMBS	3145	broad.mit.edu	37	11	118963727	118963727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118963727C>T	ENST00000537841.1	+	13	1148	c.857C>T	c.(856-858)gCc>gTc	p.A286V	HMBS_ENST00000278715.3_Missense_Mutation_p.A303V|HMBS_ENST00000392841.1_Missense_Mutation_p.A286V|HMBS_ENST00000442944.2_Missense_Mutation_p.A286V|HMBS_ENST00000542729.1_Missense_Mutation_p.A246V|HMBS_ENST00000543090.1_Missense_Mutation_p.A272V|HMBS_ENST00000544387.1_Missense_Mutation_p.A263V			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	303					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CATGTCCCTGCCCAGGTACCA	0.502000													6	48					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595819	140595819	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595819C>T	ENST00000341948.4	+	1	2311	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F708F(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.677000													12	162					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20570923	20570923	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:20570923C>T	ENST00000399722.2	+	10	1182	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RBBP8_ENST00000327155.5_Silent_p.P277P|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000399725.2_Silent_p.P277P|RBBP8_ENST00000360790.5_Silent_p.P277P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	277					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CCATGAGCCCCCTTGGTGATG	0.383000								Homologous recombination					5	15					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230268	156230268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156230268G>A	ENST00000361813.5	-	15	2401	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	753					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGGGGCCGATCCGTGTCA	0.557000													15	136					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354272	45354272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45354272C>T	ENST00000359271.2	+	2	847	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGGACCTCATCCCACTCCAGG	0.622000													9	74					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511066	76511066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76511066C>T	ENST00000389840.5	-	26	4015	c.3891G>A	c.(3889-3891)tgG>tgA	p.W1297*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1298*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGATATCTTTCCACTTGGTGG	0.453000													5	76					0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113311	18113311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18113311G>A	ENST00000403915.1	+	3	1487	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.E346K			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	346					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACTCCGTGGAGAAAGATGA	0.537000													17	73					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529719	5529719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5529719C>T	ENST00000311659.4	-	2	1217	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	357										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGATAAGTTCCTAGGGACTG	0.493000													10	109					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54871658	54871658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54871658G>A	ENST00000391743.3	-	3	612	c.332C>T	c.(331-333)tCc>tTc	p.S111F	LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000434277.2_Missense_Mutation_p.S128F|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000313038.6_Missense_Mutation_p.S122F|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.S129F			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	129	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGTGTCCGGGGAGTCCGGGCC	0.622000													4	58					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956149	55956149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55956149C>T	ENST00000263923.4	-	23	3461	c.3166G>A	c.(3166-3168)Gat>Aat	p.D1056N	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1056	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TAATCTGGATCTTTATAAATA	0.428000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	22					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959256	9959256	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9959256G>C	ENST00000295981.3	+	1	475	c.257G>C	c.(256-258)aGg>aCg	p.R86T	IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000383812.4_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000416074.2_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAACGGGGAAGGGGCAAGAGC	0.567000													8	81					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999943	46999943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:46999943G>A	ENST00000374314.4	+	1	2018	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E355K			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	355										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCCGTCCCTGGAAGCGCCTGC	0.682000													9	109					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132004242	132004242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:132004242G>A	ENST00000414305.1	+	13	1388	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	ENPP3_ENST00000358229.5_Missense_Mutation_p.E354K|ENPP3_ENST00000357639.3_Missense_Mutation_p.E354K|ENPP3_ENST00000427148.2_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	354	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GATGTTGATGGAAGGCCTGAA	0.358000													4	32					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514272	125514272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125514272G>A	ENST00000241305.3	-	13	2078	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	642					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTAATGCCACGATGAACCTGC	0.517000													9	93					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751732	19751732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:19751732C>T	ENST00000400113.3	-	4	495	c.391G>A	c.(391-393)Gga>Aga	p.G131R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	131					'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)		CCCTGCAGTCCCGTGCACAGA	0.577000													6	33					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298165	36298165	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298165C>T	ENST00000437635.2	-	2	480	c.303G>A	c.(301-303)aaG>aaA	p.K101K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	101										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCAGCATGGTCTTCAGCCACC	0.627000													8	67					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003694	74003694	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74003694G>A	ENST00000301607.3	-	22	5845	c.5592C>T	c.(5590-5592)gcC>gcT	p.A1864A	EVPL_ENST00000586740.1_Silent_p.A1886A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1864	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCCCCCTGTGGCCGCCTGGG	0.602000													11	149					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63850313	63850313	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63850313C>T	ENST00000268049.7	+	7	717	c.393C>T	c.(391-393)acC>acT	p.T131T	USP3_ENST00000559711.1_Silent_p.T64T|USP3_ENST00000536001.1_Intron|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000540797.1_Silent_p.T109T|USP3_ENST00000380324.3_Silent_p.T153T|USP3_ENST00000539772.1_Intron|USP3_ENST00000558285.1_Silent_p.T136T|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560350.1_RNA			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	153					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGGGAAGCACCACTGCCATTT	0.478000													27	43					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28101482	28101482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28101482G>A	ENST00000305242.5	-	20	3186	c.3094C>T	c.(3094-3096)Cgc>Tgc	p.R1032C	ARMC4_ENST00000545014.1_Silent_p.S597S|ARMC4_ENST00000537576.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	1032							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCCAGCCTGCGGATATTGGAT	0.463000													10	29					0	0	1	0	0
GNMT	27232	broad.mit.edu	37	6	42931281	42931281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42931281G>A	ENST00000372808.3	+	6	735	c.725G>A	c.(724-726)cGg>cAg	p.R242Q		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	242					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AGTAAGTTCCGGCTCTCCTAC	0.592000													11	60					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601965	43601965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601965G>A	ENST00000355710.3	+	5	1241	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	RET_ENST00000340058.5_Missense_Mutation_p.E337K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTGGCCCAACGAGACCTCGGT	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				8	29					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738546	72738546	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72738546G>A	ENST00000333149.2	-	2	440	c.240C>T	c.(238-240)ctC>ctT	p.L80L	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Silent_p.L80L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	80						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GGTCCCCAGGGAGCCTCAGGG	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	66					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92959855	92959855	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92959855C>A	ENST00000532405.1	+	17	1978	c.1752C>A	c.(1750-1752)gaC>gaA	p.D584E	SLC24A4_ENST00000298877.1_Missense_Mutation_p.D567E|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D565E|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D520E|SLC24A4_ENST00000351924.5_Missense_Mutation_p.D548E			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	584						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GGCGACTGGACCGGAAGCTGG	0.507000													5	35					1	1	1	1	0
PASK	23178	broad.mit.edu	37	2	242051690	242051690	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242051690G>A	ENST00000405260.1	-	15	4196	c.3498C>T	c.(3496-3498)atC>atT	p.I1166I	PASK_ENST00000539818.1_Silent_p.I950I|PASK_ENST00000358649.4_Silent_p.I1173I|PASK_ENST00000234040.4_Silent_p.I1166I|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000544142.1_Silent_p.I980I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1166	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CACAGTACTCGATGGTCCCAC	0.537000													8	32					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845390	106845390	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106845390C>T	ENST00000390617.2	-	0	298																											CAGGGTGTTCCTGGAATTGTC	0.527000													10	108					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884937	24884937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884937G>A	ENST00000382554.3	+	9	4300	c.3982G>A	c.(3982-3984)Ggt>Agt	p.G1328S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1328					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						TGCTGGCTTTGGTCTCTATGT	0.597000													23	227					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005140	20005140	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20005140G>A	ENST00000289753.1	+	2	1262	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	AGGCCCTGAAGGCCAGCCTGA	0.627000													4	61					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101086763	101086763	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:101086763G>A	ENST00000394095.2	-	8	942	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	SENP7_ENST00000358203.3_Silent_p.L133L|SENP7_ENST00000314261.7_Silent_p.L231L|SENP7_ENST00000394091.1_Silent_p.L133L|SENP7_ENST00000394094.2_Silent_p.L232L|SENP7_ENST00000348610.3_Silent_p.L264L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	297					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGAAATCAGAGTGAGTTCC	0.358000													3	14					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31343015	31343015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:31343015C>T	ENST00000225823.2	-	9	2436	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	ASIC2_ENST00000359872.6_Missense_Mutation_p.D471N	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	471					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTCCCTTCGTCCTCCTCTTTG	0.532000													10	55					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408573	10408573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10408573C>T	ENST00000226207.5	-	21	2436	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	781	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTCATCTCGCATCTCCTC	0.463000													5	24					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715970	101715970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:101715970G>A	ENST00000342239.3	-	4	1352	c.1261C>T	c.(1261-1263)Cat>Tat	p.H421Y	DNMBP_ENST00000324109.4_Missense_Mutation_p.H421Y|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	421					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGTTGGGATGAAAAGGGACC	0.527000													9	132					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160786678	160786678	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:160786678G>A	ENST00000498165.1	+	4	917	c.816G>A	c.(814-816)ctG>ctA	p.L272L	PPM1L_ENST00000295839.9_Silent_p.L145L|PPM1L_ENST00000464260.1_Silent_p.L93L|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	272	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ATTATCCGCTGAAAAATCTCA	0.532000													4	37					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833374	37833374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37833374G>A	ENST00000399137.1	-	3	1486	c.620C>T	c.(619-621)aCc>aTc	p.T207I	CLDN14_ENST00000342108.2_Missense_Mutation_p.T207I|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.T207I|CLDN14_ENST00000399135.1_Missense_Mutation_p.T207I|CLDN14_ENST00000399139.1_Missense_Mutation_p.T207I	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	207					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GGCAGGTGCGGTGTTTGCAGT	0.647000													5	89					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080363	54080363	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54080363G>A	ENST00000253144.9	+	7	1882	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ZNF331_ENST00000511593.2_Silent_p.G183G|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000513999.1_Silent_p.G183G|ZNF331_ENST00000411977.2_Silent_p.G183G|ZNF331_ENST00000512387.1_Silent_p.G183G|ZNF331_ENST00000449416.1_Silent_p.G183G|ZNF331_ENST00000511154.1_Silent_p.G183G	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTCATACTGGGGAGAAGCCCT	0.413000			T	?	follicular thyroid adenoma								9	95					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248975	141248975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:141248975G>A	ENST00000287008.3	-	2	209	c.62C>T	c.(61-63)cCc>cTc	p.P21L	PCDH1_ENST00000503492.1_Missense_Mutation_p.P21L|PCDH1_ENST00000536585.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.P21L|PCDH1_ENST00000456271.1_Missense_Mutation_p.P21L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	21					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCATCCTGGGAGGCCCCAG	0.647000													4	27					0	0	1	0	0
IGHV4-31	28396	broad.mit.edu	37	14	106805208	106805208	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106805208C>T	ENST00000438142.2	-	0	426																											CTCATTGTGTCTCTCGCACAG	0.612000													18	251					0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228419176	228419176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228419176C>T	ENST00000310078.7	+	13	1914	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	AGFG1_ENST00000373671.3_Missense_Mutation_p.P512S|AGFG1_ENST00000409979.2_Missense_Mutation_p.P574S|AGFG1_ENST00000409315.1_Missense_Mutation_p.P531S|AGFG1_ENST00000409171.1_Missense_Mutation_p.P550S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	552					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AGGACAATTTCCAACAGGAAG	0.343000													5	29					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955747	35955747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35955747C>T	ENST00000503189.1	-	6	1451	c.1295G>A	c.(1294-1296)aGg>aAg	p.R432K	UGT3A1_ENST00000274278.3_Splice_Site_p.R432_splice|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R398K			Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	432						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCCACATACCTCTTGTCTTC	0.403000													6	48					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081442	126081442	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:126081442A>T	ENST00000298317.4	-	1	145	c.92T>A	c.(91-93)tTt>tAt	p.F31Y	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.F31Y	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	31					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		AGCGGCACAAAATGGCTTTGA	0.607000													16	185					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408554	40408554	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40408554G>A	ENST00000221347.6	-	8	4292	c.4285C>T	c.(4285-4287)Ctg>Ttg	p.L1429L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1429	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTGGGCGGCAGGCAGGGAGAG	0.627000													5	66					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015943	34015943	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34015943G>A	ENST00000373381.4	-	56	8927	c.8751C>T	c.(8749-8751)tcC>tcT	p.S2917S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2892	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GATGGCCACAGGACACCACTG	0.562000													11	33					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659835	74659835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74659835C>T	ENST00000268053.6	-	1	246	c.92G>A	c.(91-93)aGg>aAg	p.R31K	CYP11A1_ENST00000541301.1_Missense_Mutation_p.R31K|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	31					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGTGGGCACCCTGAGACGCCC	0.637000													7	65					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60757548	60757548	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60757548C>T	ENST00000303375.5	+	15	2718	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	772	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACCACAATTTCGACCGGAGCC	0.647000													6	55					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886826	227886826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227886826G>A	ENST00000396625.3	-	44	4361	c.4154C>T	c.(4153-4155)cCa>cTa	p.P1385L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1382L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1385	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCTCATGCCTGGCGCCCCAGG	0.562000													12	193					0	0	1	0	0
HMGN1	3150	broad.mit.edu	37	21	40717139	40717139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40717139G>A	ENST00000361263.4	-	2	760	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Missense_Mutation_p.A79V|HMGN1_ENST00000380748.1_Missense_Mutation_p.A53V|HMGN1_ENST00000380749.5_Missense_Mutation_p.A63V			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				AGCCACTTCGGCCTGTTTTCC	0.403000													3	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216373131C>A	ENST00000366943.2	-	17	4035	c.3649G>T	c.(3649-3651)Gat>Tat	p.D1217Y	USH2A_ENST00000366942.3_Missense_Mutation_p.D1217Y|USH2A_ENST00000307340.3_Missense_Mutation_p.D1217Y|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)			3	32					1	1	1	1	0
ZNF645	158506	broad.mit.edu	37	X	22291289	22291289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:22291289G>A	ENST00000323684.1	+	1	225	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	61						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGACAAATGTGATTTGCCTAT	0.348000													4	19					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868870	56868870	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56868870C>T	ENST00000311966.4	-	10	1232	c.954G>A	c.(952-954)ggG>ggA	p.G318G	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	318					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AATTCCGATCCCCTGTTTCCT	0.478000													10	158					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167675130	167675130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167675130G>A	ENST00000519204.1	+	26	6941	c.6823G>A	c.(6823-6825)Gag>Aag	p.E2275K	TENM2_ENST00000545108.1_Missense_Mutation_p.E2395K|TENM2_ENST00000403607.2_Missense_Mutation_p.E2220K|TENM2_ENST00000520394.1_Missense_Mutation_p.E2157K|TENM2_ENST00000518659.1_Missense_Mutation_p.E2396K					teneurin transmembrane protein 2																		GGCCTATGGGGAGATTTATTA	0.527000													9	125					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739938	12739938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12739938C>T	ENST00000343325.4	+	4	1757	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	ZNF791_ENST00000540038.1_Missense_Mutation_p.A423V|ZNF791_ENST00000458122.3_Missense_Mutation_p.A500V|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTGGGAAGGCCTTTAGTCTT	0.398000													10	85					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8006774	8006774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8006774G>A	ENST00000380149.1	-	14	2321	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	ALOXE3_ENST00000448843.2_Missense_Mutation_p.S608F|ALOXE3_ENST00000318227.3_Missense_Mutation_p.S740F			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	608					leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTGCCTCATGGATGATGGAGC	0.577000													9	39					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346421	70346421	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70346421G>A	ENST00000305107.6	-	6	1564	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.F370F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	506					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTGTGATGATGAATATCACAG	0.488000													5	14					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41318520	41318520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41318520C>T	ENST00000373089.5	+	5	837	c.749C>T	c.(748-750)tCc>tTc	p.S250F	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	250					cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acctcagtttcctcacctgta	0.433000													4	19					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388965	20388965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20388965C>T	ENST00000315915.4	+	1	225	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAACCTTTCCTTTGTTGAC	0.433000													4	49					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30951791	30951791	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30951791C>T	ENST00000311813.4	+	1	322	c.267C>T	c.(265-267)atC>atT	p.I89I	AQP1_ENST00000509504.1_Silent_p.I266I|AQP1_ENST00000434909.2_Silent_p.I149I	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				GCTGCCAGATCAGCATCTTCC	0.652000													10	92					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106976717	106976717	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:106976717C>T	ENST00000369701.3	+	19	2798	c.2571C>T	c.(2569-2571)atC>atT	p.I857I	SORCS3_ENST00000369699.4_Silent_p.I143I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	857	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACAAACATCCAGCTTGACT	0.517000													3	22					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903171	4903171	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4903171C>T	ENST00000380378.1	+	1	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F	OR51T1_ENST00000322049.1_Silent_p.F14F|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAAACTTCCTCCTCACTG	0.413000													5	21					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43416877	43416877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43416877C>T	ENST00000244533.3	+	18	4413	c.4054C>T	c.(4054-4056)Cgg>Tgg	p.R1352W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R1380W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1380	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGAGGGGGGCCGGAGCTTATC	0.582000													6	95					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182913012	182913012	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182913012C>T	ENST00000328913.3	-	26	3213	c.2916G>A	c.(2914-2916)acG>acA	p.T972T	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Silent_p.T972T	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	972					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTACTCACCTCGTGCTCATTT	0.313000													13	55					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56882295	56882295	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:56882295G>A	ENST00000520220.2	+	10	1204	c.930G>A	c.(928-930)ctG>ctA	p.L310L	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Silent_p.L331L	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	331	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGATTTCCTGAAGAGCGATG	0.403000													8	86					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40337520	40337520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40337520G>A	ENST00000310169.2	+	1	175	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	12					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCTTTTGCTGGATCTACTTTG	0.507000													6	39					0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50594776	50594776	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50594776G>A	ENST00000374139.2	-	4	373	c.363C>T	c.(361-363)ccC>ccT	p.P121P	DRGX_ENST00000434016.1_Silent_p.P126P			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	126					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGTCCCCAGGGGGCGGGGAGT	0.657000													11	71					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95927357	95927357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95927357C>T	ENST00000258499.3	-	2	964	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	USP44_ENST00000393091.2_Missense_Mutation_p.E226K|USP44_ENST00000552440.1_Missense_Mutation_p.E226K|USP44_ENST00000537435.2_Missense_Mutation_p.E226K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	226					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E226Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GAAACTATTTCTATTATGGTC	0.408000													5	37					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020154	55020154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55020154C>T	ENST00000324000.3	+	1	2111	c.77C>T	c.(76-78)tCg>tTg	p.S26L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	26					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTGATTTTATCGCTCATCAGC	0.597000													4	40					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44199764	44199764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44199764C>T	ENST00000393841.1	+	11	1385	c.894C>T	c.(892-894)ttC>ttT	p.F298F	SLC29A1_ENST00000371724.1_Silent_p.F298F|SLC29A1_ENST00000371713.1_Silent_p.F298F|SLC29A1_ENST00000371731.1_Silent_p.F298F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.F298F|SLC29A1_ENST00000427851.2_Silent_p.F298F|SLC29A1_ENST00000313248.7_Silent_p.F377F|SLC29A1_ENST00000371740.5_Silent_p.F298F|SLC29A1_ENST00000371755.3_Silent_p.F298F|SLC29A1_ENST00000393844.1_Silent_p.F298F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	298					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CTGTCTGCTTCATCTTCACTA	0.512000													7	51					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422283	53422283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:53422283C>T	ENST00000377942.3	-	1	492	c.289G>A	c.(289-291)Ggc>Agc	p.G97S	PCDH8_ENST00000338862.4_Missense_Mutation_p.G97S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	97	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGCCTGGCCACACAGCCGC	0.672000													11	36					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187934	166187934	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166187934G>A	ENST00000357398.3	+	14	2534	c.2244G>A	c.(2242-2244)gtG>gtA	p.V748V	SCN2A_ENST00000375437.2_Silent_p.V748V|SCN2A_ENST00000283256.6_Silent_p.V748V|SCN2A_ENST00000375427.2_Silent_p.V748V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	748					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTTAAAGGTGAAACACCTTG	0.413000													7	39					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10332194	10332194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:10332194C>T	ENST00000298530.3	+	1	583	c.5C>T	c.(4-6)tCg>tTg	p.S2L	TMEM52B_ENST00000536952.1_Silent_p.V7V|TMEM52B_ENST00000381923.2_Silent_p.V7V	NM_153022.2	NP_694567.1			transmembrane protein 52B									p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478000													10	128					0	0	1	0	0
HCST	10870	broad.mit.edu	37	19	36393501	36393501	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36393501C>T	ENST00000246551.4	+	1	120	c.6C>T	c.(4-6)atC>atT	p.I2I	HCST_ENST00000437550.2_Silent_p.I2I			Q9UBK5	HCST_HUMAN	hematopoietic cell signal transducer	2					regulation of immune response	integral to membrane|plasma membrane				lung(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCATGATCCATCTGGGTC	0.572000													28	241					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724440	139724440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139724440G>A	ENST00000263549.3	-	12	2899	c.2026C>T	c.(2026-2028)Cag>Tag	p.Q676*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	676	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGGTGTACTGGATGACATAC	0.567000													16	43					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921025	1921025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1921025G>A	ENST00000399161.2	-	11	2317	c.1570C>T	c.(1570-1572)Cac>Tac	p.H524Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.H522Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	524					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGGCTGCGGTGATGTGGGTAC	0.557000													18	183					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695015	109695015	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109695015G>A	ENST00000465301.2	+	3	1416	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	RGAG1_ENST00000540313.1_Silent_p.V390V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	390										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATCCGCCAGTGAGAGCAACAG	0.537000													15	128					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499621	59499621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59499621G>A	ENST00000307144.4	+	1	580	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	161					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTAGTCCAGCGAAATGTGGCC	0.418000													31	109					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500766	102500766	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102500766C>T	ENST00000360184.4	+	56	10895	c.10731C>T	c.(10729-10731)gcC>gcT	p.A3577A	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3577	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAAAATGCCATCATGCTGA	0.483000													8	74					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953597	186953597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:186953597C>T	ENST00000296280.6	-	11	2287	c.2062G>A	c.(2062-2064)Gga>Aga	p.G688R	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.G575R	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	669	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCTTCAGGTCCCCCCCAGGAC	0.572000													4	33					0	0	1	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9558820	9558820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9558820G>A	ENST00000360635.3	-	3	903	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3C|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3C|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3C|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3C|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3C			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTGCCCTTGCGAAACATTTTT	0.373000													27	151					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642846	156642846	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156642846G>A	ENST00000368223.3	-	4	1266	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	378	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TACGGGCCTGGAGGAATTCTT	0.597000													10	218					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137519947	137519947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137519947C>T	ENST00000394894.3	+	12	1598	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	KIF20A_ENST00000508792.1_Missense_Mutation_p.P440S	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	458	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GAACCTGGTTCCCTTCCGTGA	0.517000													17	73					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353935	220353935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220353935G>A	ENST00000312358.7	+	35	8441	c.8309G>A	c.(8308-8310)gGt>gAt	p.G2770D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2770					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTTGTCAGGGGTACTCAAGGT	0.607000													10	118					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17420061	17420061	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17420061C>T	ENST00000375486.4	-	5	593		c.e5+1		PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Splice_Site	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CCTGCTGGCACCTTCCTTGCT	0.627000													19	123					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25209303	25209303	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25209303C>T	ENST00000276440.7	+	27	2855	c.2811C>T	c.(2809-2811)aaC>aaT	p.N937N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	937						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAGGATCAACCGGACAGTGA	0.532000													4	16					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94998772	94998772	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:94998772C>T	ENST00000334047.7	-	4	628	c.465G>A	c.(463-465)gtG>gtA	p.V155V	F3_ENST00000370207.4_Silent_p.V155V|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	155					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CGGTCACATTCACTTTTGTTC	0.403000													4	57					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498624	61498624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61498624G>T	ENST00000424789.2	+	25	5285	c.5281G>T	c.(5281-5283)Gaa>Taa	p.E1761*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.E1771*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1761							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAACCCTAACGAAATCAAACC	0.507000													18	116					2.37509e-13	2.4174e-13	1	1	0
MAP3K5	4217	broad.mit.edu	37	6	136934293	136934293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:136934293G>A	ENST00000359015.4	-	17	2740	c.2380C>T	c.(2380-2382)Ctc>Ttc	p.L794F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L41F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	794	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCATGGAGATATTTTAAT	0.368000													6	22					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75580986	75580986	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:75580986G>A	ENST00000502798.2	+	5	1355		c.e5-1		SV2C_ENST00000322285.7_Splice_Site	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCTTTTCCAGGGTGGAGCTT	0.577000													7	85					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22175423	22175423	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22175423G>A	ENST00000374695.3	-	58	7627	c.7548C>T	c.(7546-7548)gtC>gtT	p.V2516V	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2516	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGTGACAAGGACTGAGGCTT	0.632000													5	145					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918812	15918812	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15918812G>A	ENST00000334920.2	-	1	124	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGACGAGGATGAATTGGGTCA	0.537000													9	85					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790096	46790096	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46790096G>A	ENST00000262738.3	-	14	5906	c.5907C>T	c.(5905-5907)gcC>gcT	p.A1969A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1969	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTGCTGACGGCACAGTGGC	0.587000													5	68					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750981	750981	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:750981G>A	ENST00000406797.1	-	2	336	c.162C>T	c.(160-162)ttC>ttT	p.F54F	PRKAR1B_ENST00000544935.1_Silent_p.F54F|PRKAR1B_ENST00000360274.4_Silent_p.F54F|PRKAR1B_ENST00000403562.1_Silent_p.F54F|PRKAR1B_ENST00000537384.1_Silent_p.F54F|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	54	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCAGCTTCTCGAAGTGCTCCC	0.652000													19	59					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224777	248224777	+	Missense_Mutation	SNP	G	G	A	rs148776094		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248224777G>A	ENST00000359959.3	+	1	794	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265Q(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AGATCCCTGCGATCTCCAACA	0.507000													4	41					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43922367	43922367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43922367G>A	ENST00000602198.1	+	8	1064	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	TEX101_ENST00000253435.7_Missense_Mutation_p.G208S|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.G190S	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	190						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				AGCCATGATTGGCTGCAGGCT	0.502000													10	73					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89022423	89022423	+	Silent	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:89022423A>C	ENST00000237612.3	-	11	1871	c.1326T>G	c.(1324-1326)gtT>gtG	p.V442V	ABCG2_ENST00000515655.1_Silent_p.V442V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	442	ABC transmembrane type-2.				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)	CCACGGCTGAAACACTGCTGA	0.507000													3	30					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697040	169697040	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169697040G>A	ENST00000333360.7	-	9	1447	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SELE_ENST00000367776.1_Silent_p.P373P|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Silent_p.P311P|SELE_ENST00000367781.4_Silent_p.P373P|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Silent_p.P311P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	436	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACCCTTCGGGGGCTGGTGGA	0.488000													4	35					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65147374	65147374	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65147374G>A	ENST00000398802.1	-	4	320	c.117C>T	c.(115-117)atC>atT	p.I39I	SLC25A45_ENST00000527174.1_Silent_p.I39I|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000526432.1_Silent_p.I39I	NM_182556.2	NP_872362.2	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	39					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGCAATCAACGATGCCCCGGT	0.622000													4	59					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657764	52657764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52657764C>T	ENST00000334575.5	-	6	591	c.436G>A	c.(436-438)Gac>Aac	p.D146N	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	146	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ACAAGGTAGTCTTGTCCATGG	0.532000													10	66					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661995	36661995	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661995G>A	ENST00000319136.4	+	7	1428	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	APOL1_ENST00000426053.1_Silent_p.L353L|APOL1_ENST00000422706.1_Silent_p.L371L|APOL1_ENST00000397279.4_Silent_p.L371L|APOL1_ENST00000397278.3_Silent_p.L371L|APOL1_ENST00000347595.7_Silent_p.L250L	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	371					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGAGGAGCTGAAGAAGGTGG	0.498000													9	53					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557249	157557249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157557249C>T	ENST00000271532.1	-	5	799	c.664G>A	c.(664-666)Gac>Aac	p.D222N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	222	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGTGGGGTGTCTGACCGCTCT	0.517000													15	87					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524243	37524243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37524243G>A	ENST00000216223.5	-	10	1747	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	517					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CCCTGCCCAGGAGGCCTGGAC	0.632000													11	54					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000019	14000019	+	Silent	SNP	G	G	A	rs141570550	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14000019G>A	ENST00000454313.1	-	6	1708	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	C19orf57_ENST00000346736.2_Silent_p.F550F|C19orf57_ENST00000586783.1_Silent_p.F550F|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	550					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTGGGGCTTCGAAGTCAGAGG	0.607000													7	31					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871378	100871378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100871378G>A	ENST00000539247.1	-	4	665	c.233C>T	c.(232-234)cCt>cTt	p.P78L	ARMCX6_ENST00000538627.1_Missense_Mutation_p.P78L|ARMCX6_ENST00000361910.4_Missense_Mutation_p.P78L|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	78						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TGGGGCCCCAGGTTCAGTCCA	0.552000													12	42					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535331	90535331	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90535331G>A	ENST00000602681.1	+	0	1235																											CCGGATCCTCGAACCAAGCAT	0.592000													29	132					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613448	72613448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72613448C>T	ENST00000392619.1	-	2	313	c.278G>A	c.(277-279)gGa>gAa	p.G93E	CD300E_ENST00000426295.2_Missense_Mutation_p.G107E|CD300E_ENST00000328630.3_Missense_Mutation_p.G66E	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	66	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTCTCTTCTCCCTTGGTCTC	0.522000													8	82					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571762	79571762	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79571762G>A	ENST00000372391.2	-	22	4247	c.4242C>T	c.(4240-4242)atC>atT	p.I1414I	DLG5_ENST00000372388.2_Silent_p.I1074I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1414	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACTGCTGCCCGATGATGAGCC	0.657000													5	62					0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44851070	44851070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44851070C>T	ENST00000225512.5	-	2	448	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	96					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCAGGCTGTCATCTATGGTG	0.662000													13	62					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79973140	79973140	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79973140G>A	ENST00000373275.4	-	19	2379	c.2163C>T	c.(2161-2163)gcC>gcT	p.A721A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	721										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTTTCAGTGGCCATCTGGC	0.413000													20	36					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94033889	94033889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:94033889C>T	ENST00000297268.6	+	7	772	c.301C>T	c.(301-303)Cca>Tca	p.P101S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	101					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACCTAGAGGCCCACCTGGTGC	0.428000										HNSCC(75;0.22)			6	25					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577301	16577301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16577301G>A	ENST00000375592.3	-	10	2234	c.2018C>T	c.(2017-2019)cCt>cTt	p.P673L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	673										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GGTTTCAGGAGGTCCAACCAC	0.463000													21	184					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79973141	79973141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79973141G>A	ENST00000373275.4	-	19	2378	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	721										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTTTCAGTGGCCATCTGGCT	0.413000													19	36					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90340826	90340826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90340826C>T	ENST00000300060.6	-	15	2450	c.2137G>A	c.(2137-2139)Gag>Aag	p.E713K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	713	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCATAGACCTCGGAGCGGTCA	0.527000													11	118					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57062239	57062239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57062239C>T	ENST00000436936.1	+	8	2410	c.2185C>T	c.(2185-2187)Cga>Tga	p.R729*	NLRC5_ENST00000262510.6_Nonsense_Mutation_p.R729*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.R729*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.R729*			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	729					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATCACTGCCCGAGGCATCAG	0.552000													10	73					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140266982	140266982	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:140266982C>T	ENST00000275884.6	-	8	2100	c.1683G>A	c.(1681-1683)gaG>gaA	p.E561E	DENND2A_ENST00000537639.1_Silent_p.E561E|DENND2A_ENST00000496613.1_Silent_p.E561E|DENND2A_ENST00000492720.1_Silent_p.E561E			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	561										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGAGCTGCCTCTCCTGGTACT	0.587000													8	27					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736846	140736846	+	Silent	SNP	C	C	T	rs139727169	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140736846C>T	ENST00000571252.1	+	1	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTCTATCTCGTGGTGGCAG	0.607000													3	21					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81536943	81536943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81536943G>A	ENST00000548058.1	+	5	1748	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	ACSS3_ENST00000261206.3_Missense_Mutation_p.A279T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	280						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GATGGCAAAAGCCCAGTCACA	0.443000													4	28					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479879	6479879	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6479879G>A	ENST00000381480.2	-	3	229	c.117C>T	c.(115-117)ttC>ttT	p.F39F	DENND1C_ENST00000543576.1_Intron|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	39	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCTGGTCCCTGAAGTCTGGAG	0.642000													4	14					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33475373	33475373	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:33475373C>T	ENST00000265371.4	-	15	2631	c.2106G>A	c.(2104-2106)aaG>aaA	p.K702K	NRP1_ENST00000374867.2_Silent_p.K702K|NRP1_ENST00000395995.1_Silent_p.K702K			O14786	NRP1_HUMAN	neuropilin 1	702	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCACTTTGCCCTTCTGATTTT	0.512000													9	38					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1611752	1611752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1611752G>A	ENST00000262965.5	-	19	2263	c.1919C>T	c.(1918-1920)cCc>cTc	p.P640L	TCF3_ENST00000395423.3_Missense_Mutation_p.P644L|TCF3_ENST00000453954.2_Missense_Mutation_p.P552L|TCF3_ENST00000588136.1_Missense_Mutation_p.P637L|TCF3_ENST00000344749.5_Missense_Mutation_p.P637L	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	640					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTGGGTGGGGAGCTGAAAG	0.617000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								13	59					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34712476	34712476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:34712476C>T	ENST00000544216.3	+	9	1278	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	LSM14A_ENST00000540746.2_Missense_Mutation_p.R360C|LSM14A_ENST00000433627.5_Missense_Mutation_p.R401C	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	401					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATCCCACTTCGTCCAAACCG	0.507000													4	42					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26861902	26861902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26861902C>T	ENST00000226247.2	+	7	1342	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	FOXN1_ENST00000579795.1_Missense_Mutation_p.P438L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	438					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAAGAACCCCCTGCAGGAC	0.667000													6	25					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913023	29913023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29913023C>T	ENST00000308748.5	+	1	983	c.731C>T	c.(730-732)cCt>cTt	p.P244L	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	244					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGGTCCCCACCTCTGGCCCCC	0.692000													10	42					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289876	46289876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46289876G>A	ENST00000270223.6	-	3	923	c.878C>T	c.(877-879)tCg>tTg	p.S293L	DMWD_ENST00000377735.3_Missense_Mutation_p.S293L	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	293					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GCCATCGGGCGAGAAGGCGAA	0.647000													5	40					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490512	128490512	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128490512C>T	ENST00000325888.8	+	32	5634	c.5373C>T	c.(5371-5373)ttC>ttT	p.F1791F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.F1758F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1791					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCATCCCCTTCGCGGTGCAGA	0.607000													15	126					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454340	48454340	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48454340G>A	ENST00000358536.4	-	25	4934	c.4665C>T	c.(4663-4665)acC>acT	p.T1555T	PLXNB1_ENST00000296440.6_Silent_p.T1555T|PLXNB1_ENST00000448774.2_Silent_p.T166T|PLXNB1_ENST00000358459.4_Silent_p.T1372T|PLXNB1_ENST00000456774.1_Silent_p.T1372T	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1555					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGAGGTCACTGGTGAGATCGG	0.582000													5	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542435	179542435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179542435C>T	ENST00000589042.1	-	146	34428	c.34204G>A	c.(34204-34206)Gaa>Aaa	p.E11402K	TTN_ENST00000591111.1_Missense_Mutation_p.E11085K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10158K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11085	Glu-rich.|Pro-rich.						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)			ACATATTCTTCTTCGGGAGGA	0.453000													4	21					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16528870	16528870	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16528870T>G	ENST00000602009.1	-	5	1429	c.534A>C	c.(532-534)caA>caC	p.Q178H	EPS15L1_ENST00000455140.2_Missense_Mutation_p.Q332H|EPS15L1_ENST00000248070.6_Missense_Mutation_p.Q332H|EPS15L1_ENST00000597937.1_Missense_Mutation_p.Q332H|EPS15L1_ENST00000594975.1_Missense_Mutation_p.Q332H|EPS15L1_ENST00000535753.2_Missense_Mutation_p.Q332H			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	332	EF-hand.|EH 2.				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						CTAACGCGAATTGGTCTTTGC	0.547000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	61					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51887520	51887520	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51887520C>T	ENST00000453097.2	+	20	2950	c.2733C>T	c.(2731-2733)ttC>ttT	p.F911F	SLC4A8_ENST00000358657.3_Silent_p.F938F	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	911					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ACGGAGTTTTCCTTTACATGG	0.413000													17	125					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47776086	47776086	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47776086G>A	ENST00000263773.5	-	3	456	c.444C>T	c.(442-444)ttC>ttT	p.F148F	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	148										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TAACCGCTAGGAAGTTGGCCA	0.418000													4	44					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793474	30793474	+	Silent	SNP	G	G	A	rs113474959		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30793474G>A	ENST00000458257.1	+	2	293	c.279G>A	c.(277-279)ctG>ctA	p.L93L	INMT_ENST00000409539.1_Silent_p.L93L|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000013222.5_Silent_p.L94L																							GGGAGGAGCTGGAAAAGTGGC	0.562000													13	181					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023657	76023657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76023657C>T	ENST00000393004.2	-	5	2112	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E532K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E631K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	631								p.E631K(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGTGTTAGTTCCTTAATCTTA	0.423000													12	99					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470966	53470966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53470966G>A	ENST00000301463.4	-	2	189	c.103C>T	c.(103-105)Cga>Tga	p.R35*	SPRYD3_ENST00000547837.1_Nonsense_Mutation_p.R72*	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	35	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CGGACCTCTCGAATCTCCCGG	0.488000													4	48					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008508	11008508	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11008508G>A	ENST00000377004.4	-	12	1683	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	C1orf127_ENST00000377008.4_Silent_p.L395L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	413										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTCTCAGCAGGAGGGGACTT	0.607000													8	48					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112244	44112244	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44112244C>T	ENST00000361807.3	+	5	947	c.753C>T	c.(751-753)ttC>ttT	p.F251F	ZNF485_ENST00000374435.3_Silent_p.F251F|ZNF485_ENST00000374437.2_Silent_p.F160F	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGAAAGCCTTCGCTCAGAATG	0.393000													4	41					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50833529	50833529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50833529C>T	ENST00000395562.2	+	7	986	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	CHAT_ENST00000337653.2_Missense_Mutation_p.P255S|CHAT_ENST00000339797.1_Missense_Mutation_p.P137S|CHAT_ENST00000455728.2_Missense_Mutation_p.P137S|CHAT_ENST00000351556.3_Missense_Mutation_p.P137S|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.P137S	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	255					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCACTCCATTCCCACTGACTG	0.572000													6	24					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521504	125521504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125521504G>A	ENST00000241305.3	-	11	1815	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	554					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAGGCATAGGAGTAGGCCAG	0.662000													5	57					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202001014	202001014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:202001014C>T	ENST00000395148.2	+	5	829	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CFLAR_ENST00000440180.1_Intron|CFLAR_ENST00000457277.1_Intron|CFLAR_ENST00000423241.2_Intron|CFLAR_ENST00000341222.6_Intron|CFLAR_ENST00000494258.1_Intron|CFLAR_ENST00000340870.5_Intron|CFLAR_ENST00000479953.2_Intron|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Intron|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000342795.5_Intron|CFLAR_ENST00000309955.2_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	0	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GATCTGCCAACTCCATTGCCC	0.453000													7	73					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659764	121659764	+	Missense_Mutation	SNP	G	G	T	rs150691938		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121659764G>T	ENST00000489711.1	+	22	2488	c.2100G>T	c.(2098-2100)aaG>aaT	p.K700N	SLC15A2_ENST00000295605.2_Missense_Mutation_p.K669N	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	700					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCCTGTAAAGACAGAGGATA	0.478000													8	47					5.18039e-06	5.25619e-06	1	1	0
TEX15	56154	broad.mit.edu	37	8	30695435	30695435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30695435C>T	ENST00000256246.2	-	3	7290	c.7216G>A	c.(7216-7218)Gac>Aac	p.D2406N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2406										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCGCAAGTGTCTTTTGGGTTC	0.363000													9	73					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12321191	12321191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12321191C>T	ENST00000358136.3	+	12	1529	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P467S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	467					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGTGGATTCCTGAAGAGAT	0.502000													11	111					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48525002	48525002	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48525002G>A	ENST00000537810.1	-	54	8041	c.7437C>T	c.(7435-7437)aaC>aaT	p.N2479N	FRYL_ENST00000358350.4_Silent_p.N2479N|FRYL_ENST00000503238.1_Silent_p.N2479N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2479					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GATTGGTGAGGTTCAGGCTGG	0.522000													6	36					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95947716	95947716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:95947716C>T	ENST00000317620.9	+	13	1728	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	PROM2_ENST00000542147.1_Missense_Mutation_p.S532L|PROM2_ENST00000317668.4_Missense_Mutation_p.S532L|PROM2_ENST00000403131.2_Missense_Mutation_p.S532L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	532						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						ATGAACCTGTCGCAACTTCTT	0.627000													5	51					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196076	131196076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131196076C>T	ENST00000541194.1	-	2	480	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	PODXL_ENST00000378555.3_Missense_Mutation_p.E73K|PODXL_ENST00000322985.9_Missense_Mutation_p.E73K|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.E73K	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	73	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCCAAGATTTCGTTGGCCTTG	0.557000													6	78					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95035857	95035857	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95035857C>T	ENST00000557004.1	+	5	1630	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SERPINA4_ENST00000298841.5_Silent_p.F403F|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.F403F			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	403					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCGGCCCTTCCTTGTGGTGA	0.582000													5	58					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271366	48271366	+	Missense_Mutation	SNP	C	C	T	rs72648363		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48271366C>T	ENST00000225964.5	-	25	1823	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	569	Triple-helical region.		G -> R (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCAGGTGGGCCTGGGGGTCCG	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						5	67					0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224482050	224482050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:224482050G>A	ENST00000281701.6	-	12	1503	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	NVL_ENST00000340871.4_Missense_Mutation_p.S226L|NVL_ENST00000391875.2_Missense_Mutation_p.S309L|NVL_ENST00000482491.1_Missense_Mutation_p.S139L|NVL_ENST00000361463.3_Missense_Mutation_p.S309L|NVL_ENST00000469075.1_Missense_Mutation_p.S324L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	415						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		AGGGTCTAACGAGTCTGGTCG	0.458000													6	60					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892484	205892484	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205892484G>A	ENST00000367135.3	-	15	1751	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	SLC26A9_ENST00000340781.4_Silent_p.F546F|SLC26A9_ENST00000367134.2_Silent_p.F546F	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	546	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCTTTTGCCTGAAGATCTCTG	0.552000													14	109					0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	G	A	rs142113268		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37892461G>A	ENST00000403299.1	-	14	2270	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_ENST00000251973.5_Missense_Mutation_p.S685L|CARD10_ENST00000406271.3_Missense_Mutation_p.S399L			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	685					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637000													5	53					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492070	9492070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9492070C>T	ENST00000541595.2	+	12	1212	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	ZNF177_ENST00000602738.1_Missense_Mutation_p.L195F|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000589262.1_Missense_Mutation_p.L355F|ZNF177_ENST00000434737.2_Missense_Mutation_p.L355F|ZNF177_ENST00000343499.4_Missense_Mutation_p.L195F|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	195					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCCTTCATCCCTTCAGAAACA	0.458000													11	29					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667805	25667805	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25667805G>A	ENST00000382051.3	+	5	485	c.435G>A	c.(433-435)ttG>ttA	p.L145L	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.L144L|SLC34A2_ENST00000503434.1_Silent_p.L144L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	145					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ACCCTTTGTTGGGGCTGGTGA	0.502000			T	ROS1	NSCLC								15	135					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785712	140785712	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785712C>T	ENST00000370515.3	-	2	537	c.204G>A	c.(202-204)gtG>gtA	p.V68V		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGTGGTCATTCACCAGTTCCT	0.448000													15	130					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1377640	1377640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1377640G>A	ENST00000389851.4	+	13	2395	c.1948G>A	c.(1948-1950)Ggg>Agg	p.G650R	UVSSA_ENST00000511216.1_Missense_Mutation_p.G650R|UVSSA_ENST00000512728.1_Missense_Mutation_p.G201R|UVSSA_ENST00000507531.1_Missense_Mutation_p.G650R|UVSSA_ENST00000511563.1_Missense_Mutation_p.G201R	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	650																	GAAAGGCAGGGGGAAGAAGAG	0.572000													6	54					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109773609	109773609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109773609C>T	ENST00000369923.4	+	5	568	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SARS_ENST00000234677.2_Missense_Mutation_p.A186V			P49591	SYSC_HUMAN	seryl-tRNA synthetase	186					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAAAAGGGGGCCGTGGTGGCT	0.433000													96	331					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42839758	42839758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42839758C>T	ENST00000398585.3	-	13	1541	c.1481G>A	c.(1480-1482)gGg>gAg	p.G494E	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G457E|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.G457E	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	457					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G457fs*22(2)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCTTGTATCCCCTATCAGCCA	0.498000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								7	65					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1094084	1094084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1094084G>A	ENST00000308624.5	+	4	442	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	105	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAAAATATTCGAAGACCAAGC	0.388000													5	72					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457104	77457104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:77457104C>T	ENST00000451710.3	-	4	545	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TRPM6_ENST00000376872.3_Missense_Mutation_p.G103E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G98E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G103E|TRPM6_ENST00000359047.2_Missense_Mutation_p.G103E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G98E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G103E|TRPM6_ENST00000376871.3_Missense_Mutation_p.G103E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	103					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGTGTGCTCTCCATCTTGGAA	0.403000													9	43					0	0	1	0	0
CD84	8832	broad.mit.edu	37	1	160535240	160535240	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160535240C>T	ENST00000368054.3	-	2	377	c.342G>A	c.(340-342)caG>caA	p.Q114Q	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.Q114Q|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Silent_p.Q114Q|CD84_ENST00000311224.4_Silent_p.Q114Q|CD84_ENST00000534968.1_Intron	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	114					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGGATCAGCCTGTGTATTTA	0.443000													5	30					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087194	39087194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:39087194C>T	ENST00000400482.3	-	3	855	c.266G>A	c.(265-267)tGg>tAg	p.W89*	KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.W89*	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	89					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTTGAATCTCCACTTCAGGTC	0.463000													18	76					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469712	21469712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21469712C>T	ENST00000222584.3	+	3	1147	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	310					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACCACTACTTCTGCCAGTACT	0.522000													4	62					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969712	200969712	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200969712G>A	ENST00000332129.2	-	11	1807	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	KIF21B_ENST00000461742.2_Silent_p.A497A|KIF21B_ENST00000360529.5_Silent_p.A497A|KIF21B_ENST00000422435.2_Silent_p.A497A	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	497					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTCGTTCATGGCTTCACTCT	0.682000													8	57					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47843341	47843341	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47843341C>T	ENST00000378460.2	-	9	1258	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	NUP160_ENST00000528071.1_Silent_p.T290T|NUP160_ENST00000530326.1_Silent_p.T290T|NUP160_ENST00000528501.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	404					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCCAGATATCCGTGGAAGTTA	0.413000													9	60					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862823	10862823	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:10862823C>T	ENST00000559480.1	+	0	119																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GTGAAGGTCTCCTGCAAGGCT	0.572000													5	56					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171517270	171517270	+	Missense_Mutation	SNP	C	C	T	rs148957159		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:171517270C>T	ENST00000176763.5	-	10	1994	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	551							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTTCTCATCTTCGCTGATG	0.522000													18	131					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10293807	10293807	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10293807C>T	ENST00000403437.2	-	40	5872	c.5778G>A	c.(5776-5778)aaG>aaA	p.K1926K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1926					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCTCGGCTCTTCACTCGCA	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				9	116					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922614	24922614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922614C>T	ENST00000329468.2	+	1	2074	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GACTCTTCTTCCAGTCCCTTC	0.527000													9	180					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049399	23049399	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:23049399C>T	ENST00000221132.3	-	10	1279	c.1215G>A	c.(1213-1215)ggG>ggA	p.G405G		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	405	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ACAAGGCATCCCCTGGGCCTG	0.542000													11	138					0	0	1	0	0
CXCR6	10663	broad.mit.edu	37	3	45988292	45988292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:45988292G>A	ENST00000458629.1	+	1	1782	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.G107S|CXCR6_ENST00000457814.1_Missense_Mutation_p.G107S|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.G107S			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	107					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCCTACTGGGCATCTACAC	0.522000													24	170					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113089541	113089541	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113089541T>G	ENST00000409871.1	+	12	3447	c.3046T>G	c.(3046-3048)Tct>Gct	p.S1016A	ZC3H6_ENST00000343936.4_Missense_Mutation_p.S1016A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1016							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AACTAGCAATTCTGGTTCCGG	0.502000													3	21					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335585	124335585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124335585G>A	ENST00000409039.3	+	34	5924	c.5899G>A	c.(5899-5901)Gag>Aag	p.E1967K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1967	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCAGATCTGTGAGATCATGCT	0.647000													7	57					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280539	16280539	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16280539A>G	ENST00000269878.4	-	3	149	c.100T>C	c.(100-102)Tac>Cac	p.Y34H	CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	34							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						AGGTCCTGGTAGCGATAGAAG	0.572000													7	23					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157483	154157483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:154157483C>T	ENST00000360256.4	-	14	4782	c.4582G>A	c.(4582-4584)Gaa>Aaa	p.E1528K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1528	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGCTAGTTTCCGTAGGGAAT	0.478000													6	23					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754586	140754586	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140754586G>A	ENST00000517434.1	+	1	936	c.936G>A	c.(934-936)tcG>tcA	p.S312S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGACTCGAGTTTTTATG	0.393000													17	110					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60977969	60977969	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60977969G>A	ENST00000327720.5	+	2	1188	c.740G>A	c.(739-741)tGa>tAa	p.*247*		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	0					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		TGCGACATCTGAGTTGCCCAT	0.562000													6	69					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102553616	102553616	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:102553616A>G	ENST00000393772.2	-	11	1351	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L	FBXL13_ENST00000379305.3_Missense_Mutation_p.F309L|FBXL13_ENST00000379306.3_Missense_Mutation_p.F309L|FBXL13_ENST00000379308.3_Missense_Mutation_p.F309L|FBXL13_ENST00000313221.4_Missense_Mutation_p.F309L|LRRC17_ENST00000339431.4_Intron|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.F309L|FBXL13_ENST00000456695.1_Missense_Mutation_p.F309L|FBXL13_ENST00000455112.2_Missense_Mutation_p.F309L			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	309										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTGTCTGTGAACCGTCTGCAA	0.438000													5	30					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72674277	72674277	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:72674277C>T	ENST00000373514.2	+	3	711	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGAAAATCTCCCAGTTTGAGA	0.453000													3	8					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234431968	234431968	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234431968G>A	ENST00000251722.6	-	16	2163	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	USP40_ENST00000427112.2_Silent_p.I682I|USP40_ENST00000450966.1_Silent_p.I694I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	682					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CACCTGCTGGGATTGCTAAGG	0.517000													20	94					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218947958	218947958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218947958G>A	ENST00000374155.3	+	10	1951	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.R494K			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	494							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGAAGAGGCGGGTGTTG	0.587000													7	70					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949699	56949699	+	Missense_Mutation	SNP	G	G	A	rs112411315		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56949699G>A	ENST00000497933.1	+	1	479	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	81						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ATGGACACCCGAAACCTCAGC	0.597000													5	30					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128411004	128411004	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:128411004G>A	ENST00000368227.3	-	8	1662	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PTPRK_ENST00000532331.1_Silent_p.F432F|PTPRK_ENST00000368207.3_Silent_p.F432F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Silent_p.F432F|PTPRK_ENST00000368213.5_Silent_p.F432F|PTPRK_ENST00000368215.3_Silent_p.F432F|PTPRK_ENST00000368226.4_Silent_p.F432F			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	432	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTGACCACGGAAGTAATGGT	0.483000													3	22					0	0	1	0	0
PTMA	5757	broad.mit.edu	37	2	232577545	232577545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:232577545C>T	ENST00000409115.3	+	5	515	c.317C>T	c.(316-318)aCc>aTc	p.T106I	PTMA_ENST00000410064.1_Missense_Mutation_p.T132I|PTMA_ENST00000409683.1_Missense_Mutation_p.T103I|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000341369.7_Missense_Mutation_p.T107I|PTMA_ENST00000409321.1_Missense_Mutation_p.T127I	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	107					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AAGCAGAAGACCGACGAGGAT	0.493000													3	6					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814356	64814356	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:64814356G>A	ENST00000396679.1	-	11	970	c.756C>T	c.(754-756)gcC>gcT	p.A252A	CENPK_ENST00000508421.1_Silent_p.A222A|CENPK_ENST00000242872.3_Silent_p.A252A|CENPK_ENST00000510693.1_Silent_p.A189A|CENPK_ENST00000514814.1_Silent_p.A252A	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	252					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		GATGTCTCAAGGCAATTCCAT	0.348000													5	37					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835108	172835108	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:172835108C>T	ENST00000351008.3	-	2	597	c.414G>A	c.(412-414)gaG>gaA	p.E138E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	138					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACTCTACAAACTCATAGCGAA	0.428000													4	25					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340684	99340684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99340684G>A	ENST00000307518.5	+	5	877	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	ANKRD2_ENST00000298808.5_Missense_Mutation_p.G204R|ANKRD2_ENST00000370655.1_Missense_Mutation_p.G177R|ANKRD2_ENST00000455090.1_Missense_Mutation_p.G177R			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	204					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		TCTAGATAATGGGGCCACTGT	0.592000													3	17					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50544916	50544916	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50544916G>A	ENST00000267845.3	-	8	1245	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HDC_ENST00000543581.1_Silent_p.F281F	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	281					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGGGGCACAGGAAGGCAGTGC	0.562000													8	26					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33458688	33458688	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33458688C>T	ENST00000265112.3	+	10	1313	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	TARS_ENST00000502553.1_Silent_p.F334F|TARS_ENST00000455217.2_Silent_p.F367F|TARS_ENST00000414361.2_Silent_p.F213F|TARS_ENST00000541634.1_Silent_p.F230F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	334					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)	AACTATATTTCTTTCATGAAC	0.338000													7	29					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50453412	50453412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50453412C>T	ENST00000447370.2	-	11	2002	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.E542K	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	638					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCTGCTCTTCCCCCTTCCCC	0.657000													7	25					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586244	54586244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:54586244G>A	ENST00000545554.1	+	10	3970	c.3970G>A	c.(3970-3972)Gat>Aat	p.D1324N	UNC13C_ENST00000537900.1_Missense_Mutation_p.D1322N|UNC13C_ENST00000260323.11_Missense_Mutation_p.D1324N			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1324					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGGAGAAATGGATGTCTGGTA	0.348000													22	73					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321760	36321760	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36321760C>T	ENST00000378910.5	-	28	3579	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	NPHS1_ENST00000353632.6_Missense_Mutation_p.D1154N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1194	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.D1194N(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCACTTCATCGTAGAGGGGT	0.527000													12	90					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652269	1652269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1652269G>A	ENST00000252804.4	-	17	3333	c.3283C>T	c.(3283-3285)Cac>Tac	p.H1095Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1095					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGGGGAGGTGATCTTGTGCA	0.582000													4	19					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28631588	28631588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:28631588G>A	ENST00000380982.4	-	4	461	c.380C>T	c.(379-381)tCc>tTc	p.S127F	FLT3_ENST00000537084.1_Missense_Mutation_p.S127F|FLT3_ENST00000241453.7_Missense_Mutation_p.S127F			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	127					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATGACCATGGAAACAACTCC	0.333000			"""Mis, O"""		"""AML, ALL"""								7	32					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156811232	156811232	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156811232T>A	ENST00000368195.3	-	21	4012	c.3616A>T	c.(3616-3618)Atg>Ttg	p.M1206L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1206	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGCCATCCATGACGAACTTC	0.602000													5	69					0	0	1	0	0
TMIE	259236	broad.mit.edu	37	3	46747307	46747307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46747307C>T	ENST00000326431.3	+	2	276	c.121C>T	c.(121-123)Ccg>Tcg	p.P41S		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	41						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAAGCCCAAGCCGCCTCCGCT	0.622000											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	80					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345538	235345538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:235345538G>A	ENST00000264183.3	-	20	3193	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ARID4B_ENST00000366603.2_Missense_Mutation_p.S899L|ARID4B_ENST00000349213.3_Missense_Mutation_p.S813L	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	899					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)			TGCCACTTCTGAAAATCCTGA	0.353000													5	83					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145414803	145414803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145414803C>T	ENST00000336751.5	+	2	260	c.22C>T	c.(22-24)Cct>Tct	p.P8S	HFE2_ENST00000357836.5_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	8					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGCCAGTCCCCTAGTCCCAG	0.592000													7	51					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2904000	2904000	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2904000G>A	ENST00000161006.3	-	5	648	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	PRSS22_ENST00000571228.1_Silent_p.L85L	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	195	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						AGCTTCTGCAGGGTCTGAGGG	0.582000													12	115					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456451	5456451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5456451G>A	ENST00000222033.4	+	1	1026	c.949G>A	c.(949-951)Gag>Aag	p.E317K		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	317						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGATGAGTATGAGGAGGGCGA	0.627000													4	52					0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33416214	33416214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:33416214G>A	ENST00000256257.1	-	2	502	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	34						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GATGTTGAGCGGAAGGTCCTG	0.498000													6	49					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576674	138576674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:138576674C>T	ENST00000251691.4	+	10	1038	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	291					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGCCTGGAGTCGGACTCTGCG	0.582000													8	76					0	0	1	0	0
HEYL	26508	broad.mit.edu	37	1	40097199	40097199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40097199C>T	ENST00000372852.3	-	3	519	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	HEYL_ENST00000535435.1_Missense_Mutation_p.R39Q	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	67	Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACCAAGCGTCGCAATTCAGA	0.458000													4	63					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86014139	86014139	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86014139C>T	ENST00000359452.4	+	5	620	c.582C>T	c.(580-582)ttC>ttT	p.F194F	RGR_ENST00000358110.5_Silent_p.F190F	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	190					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGCCCCTCTTCATCACGATCA	0.542000													6	84					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016125	27016125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:27016125G>A	ENST00000318627.2	+	1	498	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	18						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CCTGTGTCAAGGCTACTTCGA	0.527000													4	60					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236136	19236136	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19236136G>C	ENST00000562034.1	+	5	4819	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	SYT17_ENST00000562711.2_Missense_Mutation_p.E398Q|SYT17_ENST00000568115.1_Missense_Mutation_p.E341Q|SYT17_ENST00000568433.1_Missense_Mutation_p.E96Q|SYT17_ENST00000355377.2_Missense_Mutation_p.E402Q			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	402	C2 2.					membrane|synaptic vesicle	transporter activity	p.E402K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGAAGAACTGGAAAATGCCAG	0.448000													8	37					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100082951	100082951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100082951G>A	ENST00000423930.1	+	2	176	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	NYAP1_ENST00000300179.2_Missense_Mutation_p.R6Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	6																	CTCCTCTACCGAAAAACCAAG	0.672000													3	10					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9388636	9388636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9388636C>T	ENST00000378501.2	+	18	1699	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	PLCB4_ENST00000378493.1_Missense_Mutation_p.H562Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.H562Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.H574Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.H574Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.H562Y	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	562					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CACTAATATCCATCCATATTT	0.428000													12	51					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228524704	228524704	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228524704G>A	ENST00000570156.2	+	76	19482		c.e76-1		OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						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)				TGTATCCGCAGAAGAGCCTCT	0.622000													3	10					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648645	57648645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57648645G>A	ENST00000402412.1	-	24	3274	c.2884C>T	c.(2884-2886)Cgt>Tgt	p.R962C	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R643C|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R948C|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R982C|R3HDM2_ENST00000393811.2_Missense_Mutation_p.R675C|R3HDM2_ENST00000347140.3_Missense_Mutation_p.R948C			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	948						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTGTTGAGACGAAGGGAGGCA	0.567000													5	69					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7662898	7662898	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7662898G>A	ENST00000572933.1	+	16	4067	c.2607G>A	c.(2605-2607)ttG>ttA	p.L869L	DNAH2_ENST00000389173.2_Silent_p.L869L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	869	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGTCATTTTGAAGAATGATC	0.453000													4	57					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203590	56203590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:56203590C>T	ENST00000361673.3	-	5	4042	c.3829G>A	c.(3829-3831)Gat>Aat	p.D1277N	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1277							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTAGACTATCAGGTACAGCC	0.507000													6	57					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89662897	89662897	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89662897C>T	ENST00000268720.5	+	17	1900	c.1770C>T	c.(1768-1770)tcC>tcT	p.S590S	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.S515S	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	590					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCAGGCATCCCCTGCGGCGC	0.632000													6	71					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203591054	203591054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203591054C>T	ENST00000303116.6	+	4	938	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	FAM117B_ENST00000392238.2_Missense_Mutation_p.H310Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	310	Gly-rich.							p.H310Y(1)|p.H66Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GTCTCCATTTCATGGCAACCA	0.388000													19	199					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413072	124413072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124413072C>T	ENST00000306842.2	-	1	503	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G160E(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		CATTATGCTTCCTGTGTGGGC	0.502000													4	14					0	0	1	0	0
DALRD3	55152	broad.mit.edu	37	3	49055203	49055203	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49055203G>A	ENST00000440857.1	-	4	762	c.60C>T	c.(58-60)tcC>tcT	p.S20S	DALRD3_ENST00000441576.2_Silent_p.S187S|DALRD3_ENST00000313778.5_Silent_p.S20S|DALRD3_ENST00000395462.4_Silent_p.S20S|DALRD3_ENST00000341949.4_Silent_p.S187S|DALRD3_ENST00000496568.1_5'UTR			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	187					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGTGTGGGAGGAAGCTCTCT	0.627000													4	28					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955477	18955477	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18955477C>T	ENST00000302797.3	-	1	1079	c.855G>A	c.(853-855)caG>caA	p.Q285Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	285					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTTCAGGTTCTGCCTATTTT	0.522000													9	91					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397454	13397454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13397454G>A	ENST00000360228.5	-	20	3415	c.3416C>T	c.(3415-3417)aCc>aTc	p.T1139I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T1140I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1140					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATTCTCGGGGGTCTTGGGGGG	0.647000													5	23					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489928	58489928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58489928G>A	ENST00000341164.4	-	7	2740	c.2120C>T	c.(2119-2121)cCa>cTa	p.P707L	ZNF606_ENST00000536132.1_Missense_Mutation_p.P617L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACACCTGTATGGTTTCTCTCC	0.393000													5	47					0	0	1	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416910	89416910	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89416910C>T	ENST00000490686.1	-	0	300																											AGAGTGAATTCTGTCCCAGAT	0.498000													7	13					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208209	113208209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:113208209C>T	ENST00000401783.2	-	26	4707	c.4371G>A	c.(4369-4371)atG>atA	p.M1457I	SVEP1_ENST00000374469.1_Missense_Mutation_p.M1434I|SVEP1_ENST00000302728.8_Missense_Mutation_p.M1457I|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1457	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGAGGATTTCATCCAGAAGG	0.453000													8	44					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122676082	122676082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122676082G>A	ENST00000339777.4	+	6	1085	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LRRC43_ENST00000425921.1_Missense_Mutation_p.E168K	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	353	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TGAAGAAGGCGAAATGAATGA	0.552000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	76					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822103	56822103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56822103G>A	ENST00000229201.4	-	13	1646	c.1492C>T	c.(1492-1494)Ctt>Ttt	p.L498F	TIMELESS_ENST00000553532.1_Missense_Mutation_p.L499F|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	499					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGGTCACGAAGGAAAGAGCGG	0.522000													9	42					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013914	53013914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53013914G>A	ENST00000421239.2	+	6	524	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCAAAGACATGAAAGTTATCA	0.383000													9	86					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388715	4388715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4388715G>A	ENST00000408920.2	-	1	901	c.811C>T	c.(811-813)Cca>Tca	p.P271S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATACAAGGTGGAATGTGGCGT	0.463000													3	8					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20781762	20781762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:20781762G>A	ENST00000405555.3	-	10	1686	c.1616C>T	c.(1615-1617)cCa>cTa	p.P539L	SCARF2_ENST00000266214.5_Missense_Mutation_p.P544L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	539					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGACCAGGATGGTGAGGGCTG	0.602000													7	82					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222738	72222738	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:72222738C>T	ENST00000340595.3	+	3	628	c.432C>T	c.(430-432)gaC>gaT	p.D144D	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.D188D|SLC4A4_ENST00000264485.5_Silent_p.D188D|SLC4A4_ENST00000425175.1_Silent_p.D188D|SLC4A4_ENST00000512686.1_Silent_p.D144D	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	188						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATTGTTGACCATCAGATTG	0.393000													7	31					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136651	56136651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56136651G>A	ENST00000319441.4	+	2	348	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	PCK1_ENST00000535860.1_5'UTR|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	62					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGATGGAGGAAGAGGGCAT	0.607000													15	98					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199418	86199418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:86199418G>A	ENST00000361228.3	-	2	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	124					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGCCACAAAGGAACTGGAAGA	0.438000													8	126					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40359636	40359636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40359636G>A	ENST00000293328.3	-	16	2185	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	673	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCTTTTGGCCGATCAGGAAAC	0.448000													6	75					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154478223	154478223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154478223C>T	ENST00000409663.3	+	6	590	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	KIAA0922_ENST00000440693.1_Missense_Mutation_p.L180F|KIAA0922_ENST00000409959.3_Missense_Mutation_p.L180F	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	180						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTATGGAGTCCTTTCCTATCA	0.348000													7	26					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39267342	39267342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39267342G>A	ENST00000373231.4	-	5	1092	c.860C>T	c.(859-861)tCc>tTc	p.S287F	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	287						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						CCAGCTTTGGGACTTGAAGTC	0.567000													7	48					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511891	4511891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4511891G>A	ENST00000301286.3	-	3	2038	c.2039C>T	c.(2038-2040)aCc>aTc	p.T680I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	680	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTTGGTGCCGGTCAGCACGGT	0.572000													12	205					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236906244	236906244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236906244G>A	ENST00000366578.4	+	11	1322	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E386K|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	386					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAAGGGTTACGAGGAGTGGTT	0.542000													6	65					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49100166	49100166	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49100166C>T	ENST00000323090.4	+	5	1146	c.771C>T	c.(769-771)ttC>ttT	p.F257F	SULT2B1_ENST00000201586.2_Silent_p.F272F|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCGGGGCCTTCCTCCGGAAAG	0.627000													3	9					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481936	56481936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56481936G>A	ENST00000291971.3	+	6	2479	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R803K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	803						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCACCCCTAGAATTTGGACT	0.473000													11	111					0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186427719	186427719	+	Silent	SNP	C	C	A	rs146946948		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:186427719C>A	ENST00000284770.5	-	6	823	c.750G>T	c.(748-750)tcG>tcT	p.S250S	PDLIM3_ENST00000284771.6_Silent_p.S202S|PDLIM3_ENST00000284767.5_3'UTR	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	250						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAAGGAGCCCGACTGGCGAG	0.632000													4	53					1	1	1	1	0
TBRG4	9238	broad.mit.edu	37	7	45148715	45148715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45148715G>A	ENST00000258770.3	-	2	243	c.122C>T	c.(121-123)tCc>tTc	p.S41F	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000395655.4_Missense_Mutation_p.S41F|TBRG4_ENST00000494076.1_Missense_Mutation_p.S41F|TBRG4_ENST00000361278.3_Missense_Mutation_p.S41F	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	41					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGTGGCTGAGGAAGTCAGAGT	0.587000													30	91					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62456008	62456008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62456008G>A	ENST00000371158.2	+	28	3953	c.3839G>A	c.(3838-3840)cGa>cAa	p.R1280Q	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.R64Q|INADL_ENST00000316485.6_Missense_Mutation_p.R1280Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1280	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCAGATGGACGAATGCGTATT	0.453000													4	10					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55820066	55820066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55820066C>T	ENST00000309383.1	+	18	2426	c.2149C>T	c.(2149-2151)Cat>Tat	p.H717Y	BRSK1_ENST00000590333.1_Missense_Mutation_p.H733Y|BRSK1_ENST00000326848.7_Missense_Mutation_p.H412Y	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	717					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCTGAGCACTCATGACCAGCC	0.706000													5	21					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175643	25175643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25175643G>A	ENST00000409280.1	-	10	2029	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S574L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	574								p.S574L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CTTCATCCCCGAATGCTCATT	0.383000													8	66					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922732	24922732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922732C>T	ENST00000329468.2	+	1	2192	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCGGTAGACCCTGAAGTAGTT	0.458000													5	75					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47044494	47044494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47044494C>T	ENST00000450053.3	+	34	5686	c.5507C>T	c.(5506-5508)tCa>tTa	p.S1836L	NBEAL2_ENST00000383740.2_Missense_Mutation_p.S115L|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1652L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1836							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAGACATATTCACGCATGCGT	0.597000													4	22					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21009332	21009332	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21009332C>T	ENST00000247986.2	-	11	2587	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	KIF17_ENST00000400463.3_Silent_p.K759K|KIF17_ENST00000375044.1_Silent_p.K659K|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	759					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTCCTTGTTCTTGGCCTGCT	0.602000													4	115					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40030083	40030083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40030083G>A	ENST00000352035.2	-	23	2753	c.2623C>T	c.(2623-2625)Ctc>Ttc	p.L875F	ACLY_ENST00000590151.1_Missense_Mutation_p.L875F|ACLY_ENST00000353196.1_Missense_Mutation_p.L865F|ACLY_ENST00000537919.1_Missense_Mutation_p.L604F|ACLY_ENST00000393896.2_Missense_Mutation_p.L865F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	875					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AACCAGAGGAGGCCGAGGACC	0.572000													8	91					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50521574	50521574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50521574G>A	ENST00000311597.5	-	3	812	c.206C>T	c.(205-207)tCg>tTg	p.S69L	MLC1_ENST00000538737.1_Missense_Mutation_p.S69L|MLC1_ENST00000535444.1_5'UTR|MLC1_ENST00000450140.2_Missense_Mutation_p.S69L|MLC1_ENST00000395876.2_Missense_Mutation_p.S69L|MLC1_ENST00000431262.2_Intron	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	69						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGGTACAGCGAAAACCCCGA	0.607000													6	72					0	0	1	0	0
ZNF232	7775	broad.mit.edu	37	17	5009145	5009145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5009145G>A	ENST00000250076.3	-	5	1963	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	ZNF232_ENST00000575898.1_Missense_Mutation_p.H428Y	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	410					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTTCTGGCATGAACTCTCCGA	0.428000													9	125					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39914689	39914689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39914689C>T	ENST00000393931.3	-	10	1853	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	JUP_ENST00000393930.1_Missense_Mutation_p.E579K|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.E579K	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	579					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGGAAGATCTCCATGCGGTTC	0.612000													11	51					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598275	31598275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31598275G>A	ENST00000379416.3	-	15	1621	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	525					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAGCTTCTGAAGGACTGTC	0.567000													44	104					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166254685	166254685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166254685C>T	ENST00000261507.6	+	2	336	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.L55F	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	55					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGGGATCCCTTATAGTTCA	0.299000													3	26					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17280821C>T	ENST00000331428.5	-	3	531	c.429G>A	c.(427-429)acG>acA	p.T143T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403000													6	61					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11367872	11367872	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:11367872C>T	ENST00000379261.4	+	12	1421	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	CELF2_ENST00000416382.2_Silent_p.F443F|CELF2_ENST00000450189.1_Silent_p.F456F|CELF2_ENST00000417956.2_Silent_p.F423F|CELF2_ENST00000537122.1_Silent_p.F338F|CELF2_ENST00000399850.3_Silent_p.F425F|CELF2_ENST00000354440.2_Silent_p.F425F|CELF2_ENST00000315874.3_Silent_p.F425F|CELF2_ENST00000542579.1_Silent_p.F456F|CELF2_ENST00000354897.3_Silent_p.F437F|CELF2_ENST00000427450.1_Silent_p.F425F	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	443	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGCAGATGTTCATGCCTTTTG	0.403000													5	56					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31656016	31656016	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31656016C>T	ENST00000331728.4	+	5	618	c.504C>T	c.(502-504)tcC>tcT	p.S168S	LIMK2_ENST00000406516.1_Silent_p.S90S|LIMK2_ENST00000340552.4_Silent_p.S147S|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.S147S	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	168	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTCCGTGTCCGTGGAGAGTG	0.552000													6	73					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134072794	134072794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134072794G>A	ENST00000534548.2	-	13	1596	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	511					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTTTGGTAGGAAAAAGCTTT	0.353000													4	39					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854510	234854510	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234854510T>C	ENST00000324695.4	+	7	750	c.710T>C	c.(709-711)tTa>tCa	p.L237S	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	237						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGCTATTTTTTAGCCCAGTAC	0.378000													13	64					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117808	117808	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117808C>T	ENST00000382500.2	-	1	609	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	104					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AGGAGGGGGGCTTTGCCGGCT	0.672000													32	155					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490067	100490067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100490067C>T	ENST00000302913.4	-	3	1579	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	ACHE_ENST00000412389.1_Missense_Mutation_p.E481K|ACHE_ENST00000241069.5_Missense_Mutation_p.E481K|ACHE_ENST00000428317.1_Missense_Mutation_p.E481K|ACHE_ENST00000419336.2_Missense_Mutation_p.E393K|ACHE_ENST00000411582.1_Missense_Mutation_p.E481K	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	481					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	AACTCGATCTCGTAGCCGTGG	0.612000													8	51					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150921921C>T	ENST00000261800.5	-	9	8779	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2923	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512000													16	85					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13476228	13476228	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13476228G>A	ENST00000360228.5	-	5	686	c.687C>T	c.(685-687)atC>atT	p.I229I	CACNA1A_ENST00000573710.2_Silent_p.I229I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	229					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGGAGGCCGATCTGCAGCA	0.458000													8	46					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688487	26688487	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26688487C>T	ENST00000529632.2	+	2	406	c.210C>T	c.(208-210)ccC>ccT	p.P70P	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.P70P|SEZ6L_ENST00000343706.4_Silent_p.P70P|SEZ6L_ENST00000404234.3_Silent_p.P70P|SEZ6L_ENST00000248933.6_Silent_p.P70P|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TAACAGCGCCCCCCAGTTCCT	0.632000													7	26					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76566926	76566926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76566926G>A	ENST00000369981.3	+	13	1615	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	MYO6_ENST00000369975.1_Missense_Mutation_p.E446K|MYO6_ENST00000369985.4_Missense_Mutation_p.E446K|MYO6_ENST00000369977.3_Missense_Mutation_p.E446K			Q9UM54	MYO6_HUMAN	myosin VI	446	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTTTCCTTTTGAAACATCATC	0.348000													9	43					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769403	140769403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140769403C>T	ENST00000519479.1	+	1	1952	c.1952C>T	c.(1951-1953)cCa>cTa	p.P651L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCCACCACTCTCGGCC	0.692000													7	36					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089055	86089055	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:86089055T>G	ENST00000330753.4	+	2	1964	c.1197T>G	c.(1195-1197)acT>acG	p.T399T	FLRT2_ENST00000554746.1_Silent_p.T399T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	399					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGCCTCCAACTCCTACCACAT	0.537000													12	51					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785569	111785569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111785569G>A	ENST00000261726.6	+	22	4055	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1301						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATCAAGCAGGAACAGATGGA	0.612000													5	27					0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72551959	72551959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72551959C>T	ENST00000409314.1	-	20	2342	c.2174G>A	c.(2173-2175)aGg>aAg	p.R725K	FCHSD2_ENST00000458644.2_Missense_Mutation_p.R565K|FCHSD2_ENST00000409418.4_Missense_Mutation_p.R701K|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409263.1_Missense_Mutation_p.R62K|FCHSD2_ENST00000311172.7_Missense_Mutation_p.R645K			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	701							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGGAGTATGCCTTGATGCCTG	0.408000													20	315					0	0	1	0	0
GPR6	2830	broad.mit.edu	37	6	110300859	110300859	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110300859C>T	ENST00000414000.2	+	3	828	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	GPR6_ENST00000275169.3_Silent_p.L182L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	182						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GCGCCGGACCCTGTTGGGCGT	0.677000													8	34					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688415	151688415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151688415C>T	ENST00000290583.4	-	1	875	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	AL589765.1_ENST00000442233.2_Intron|CELF3_ENST00000290585.4_Missense_Mutation_p.E28K|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	28	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCAAACTGTTCGAAGATGGGC	0.592000													14	49					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109605748	109605748	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109605748C>T	ENST00000338432.7	+	4	953	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ACACB_ENST00000377854.5_Silent_p.S278S|ACACB_ENST00000377848.3_Silent_p.S278S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	278	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCATGCGCTCCATCCGCAGGT	0.592000													7	40					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095065	145095065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145095065C>T	ENST00000377470.3	+	2	569	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SPATC1_ENST00000447830.2_Missense_Mutation_p.S156F	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	156										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCAGTTCCCTGGGCCTG	0.672000													4	3					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186113349	186113349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186113349G>A	ENST00000271588.4	+	90	14198	c.13969G>A	c.(13969-13971)Gaa>Aaa	p.E4657K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E4657K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4657	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACATGCAGCGAAAGTTGTGG	0.488000													5	45					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18858169	18858169	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:18858169C>T	ENST00000266505.7	-	7	1058	c.795G>A	c.(793-795)caG>caA	p.Q265Q	PLCZ1_ENST00000435379.1_Silent_p.Q70Q|PLCZ1_ENST00000538330.1_Silent_p.Q6Q|PLCZ1_ENST00000541695.1_Silent_p.Q128Q|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.Q263Q|PLCZ1_ENST00000539875.1_Silent_p.Q72Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	265	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Q265H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAAAAGTAGCCTGCAAATTGT	0.398000													5	44					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999542	218999542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218999542G>A	ENST00000318507.2	+	3	445	c.18G>A	c.(16-18)atG>atA	p.M6I		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	6					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATTTTAACATGGAGAGTGACA	0.403000													6	64					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66391954	66391954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66391954C>T	ENST00000310137.4	+	2	746	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	RBM14_ENST00000409738.4_Intron|RBM14_ENST00000409372.1_3'UTR|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000461478.1_3'UTR	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	203					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGGCAAGCCCGTCAGCCCAC	0.632000													4	46					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349601	48349601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48349601C>T	ENST00000435803.1	+	24	9403	c.9379C>T	c.(9379-9381)Cat>Tat	p.H3127Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3127					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGAAATCCTTCATCTCCTGCT	0.473000													10	92					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67154915	67154915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:67154915C>T	ENST00000371037.4	+	16	1477	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	SGIP1_ENST00000371035.3_Missense_Mutation_p.S257F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S267F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S268F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S498F	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	467	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CGGCCTCCATCCCGGCCAAAG	0.537000													22	158					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774692	121774692	+	Missense_Mutation	SNP	G	G	A	rs142855444		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:121774692G>A	ENST00000264808.3	-	3	421	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	PRDM5_ENST00000515109.1_Missense_Mutation_p.R61C|PRDM5_ENST00000394435.2_Missense_Mutation_p.R61C|PRDM5_ENST00000428209.2_Missense_Mutation_p.R61C	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	61	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACTCCCACGAACCTGAAAC	0.423000													4	59					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94780446	94780446	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94780446C>T	ENST00000341584.3	-	2	686	c.540G>A	c.(538-540)ggG>ggA	p.G180G		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	180					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGACAATTTTCCCCTGTGTCT	0.478000													12	57					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89868145	89868145	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89868145C>T	ENST00000275072.4	+	5	1109	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	338							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GAATAGAGTTCATTTCAGAAG	0.333000													6	42					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507329	1507329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1507329G>A	ENST00000330475.4	-	9	1207	c.764C>T	c.(763-765)gCc>gTc	p.A255V	ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.A265V|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.A24V	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	255						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCGTGCCGGCCGCCTCGTA	0.657000													15	116					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19186759	19186759	+	Silent	SNP	C	C	T	rs147412182		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:19186759C>T	ENST00000314728.5	+	3	811	c.327C>T	c.(325-327)ttC>ttT	p.F109F	EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Silent_p.F109F|EPN2_ENST00000395626.1_Silent_p.F109F|EPN2_ENST00000395620.2_Silent_p.F109F|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Silent_p.F109F	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	109	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TGAAGGACTTCCAGTACATTG	0.572000													4	29					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133499042	133499042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:133499042C>T	ENST00000319725.9	+	11	994	c.919C>T	c.(919-921)Ccg>Tcg	p.P307S		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	307	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CATGGGCCCTCCGGATCGGTG	0.532000													8	68					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762574	43762574	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43762574G>A	ENST00000244293.7	-	4	810	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PSG9_ENST00000418820.2_Silent_p.F248F|PSG9_ENST00000596730.1_Silent_p.F155F|PSG9_ENST00000291752.5_Silent_p.F155F|PSG9_ENST00000443718.3_Silent_p.F248F|PSG9_ENST00000270077.3_Silent_p.F341F|PSG9_ENST00000593948.1_Silent_p.F248F			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	246	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAATAGGTGAATGAAGGGT	0.463000													8	134					0	0	1	0	0
SLC25A14	9016	broad.mit.edu	37	X	129499602	129499602	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129499602C>T	ENST00000218197.5	+	8	1034	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC25A14_ENST00000361980.5_Silent_p.I266I|SLC25A14_ENST00000339231.3_Silent_p.I297I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000543953.1_3'UTR	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	269					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGAGGGCAATCGTGGGACATG	0.453000													4	45					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16253978	16253978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:16253978G>A	ENST00000354981.2	-	26	4031	c.3874C>T	c.(3874-3876)Ctc>Ttc	p.L1292F	KIF16B_ENST00000355755.3_Missense_Mutation_p.L1262F|KIF16B_ENST00000378003.2_Missense_Mutation_p.L477F	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1292	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTTTCGAGAGAGTCAGTCCC	0.488000													5	72					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10475316	10475316	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10475316G>A	ENST00000525621.1	-	9	1822	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	TYK2_ENST00000264818.6_Silent_p.I447I|TYK2_ENST00000524462.1_Silent_p.I262I|TYK2_ENST00000529370.1_Silent_p.I447I	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	447					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCCATCCCGGATGCTCATCA	0.672000													7	54					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168199905	168199905	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168199905C>A	ENST00000519560.1	-	14	1759	c.1340G>T	c.(1339-1341)tGg>tTg	p.W447L	SLIT3_ENST00000332966.8_Missense_Mutation_p.W447L|SLIT3_ENST00000404867.3_Missense_Mutation_p.W447L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	447	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCGGCCAGCCACTTCAAGTG	0.622000													6	58					0.0215528	0.0217323	1	1	0
INCENP	3619	broad.mit.edu	37	11	61906362	61906362	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61906362C>T	ENST00000394818.3	+	7	1378	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	INCENP_ENST00000278849.4_Silent_p.V392V	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	392					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCCACAGGTCCCTGAGAACA	0.587000													9	107					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004845	74004845	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74004845G>A	ENST00000301607.3	-	22	4694	c.4441C>T	c.(4441-4443)Ctg>Ttg	p.L1481L	EVPL_ENST00000586740.1_Silent_p.L1503L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1481	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCACCGCAGGGCTTCCGTG	0.592000													18	124					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673174	1673174	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1673174C>G	ENST00000254722.4	+	3	276	c.113C>G	c.(112-114)gCg>gGg	p.A38G	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	38					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGCACAGGGGCGCTGGTGGAG	0.607000													9	93					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167882444C>T	ENST00000265293.4	+	19	3244	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.S914S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632000													10	104					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348635	3348635	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348635A>T	ENST00000378398.3	+	17	3709	c.3627A>T	c.(3625-3627)aaA>aaT	p.K1209N	PRDM16_ENST00000378391.2_Missense_Mutation_p.K1209N|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000442529.2_Missense_Mutation_p.K1208N|PRDM16_ENST00000441472.2_Missense_Mutation_p.K1208N|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Missense_Mutation_p.K1209N|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1209	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTGAAGTTAAAGATGTGCTTA	0.542000			T	EVI1	"""MDS, AML"""								5	80					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114214640	114214640	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114214640C>T	ENST00000357077.4	+	22	2474	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ANK2_ENST00000509550.1_Silent_p.I16I|ANK2_ENST00000394537.3_Silent_p.I807I|ANK2_ENST00000264366.6_Silent_p.I807I|ANK2_ENST00000506722.1_Silent_p.I786I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	807					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGGCTACATCTCCGTGGTCG	0.502000													9	32					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99413844	99413844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:99413844C>T	ENST00000397899.2	-	8	2904	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E		NM_207362.2	NP_997245.2			KIAA1211-like																		GGCTTGCTTTCCTGGTTCAGA	0.622000													10	110					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56345271	56345271	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56345271G>A	ENST00000262290.4	+	13	2371	c.2055G>A	c.(2053-2055)tgG>tgA	p.W685*	LPO_ENST00000421678.2_Nonsense_Mutation_p.W602*|LPO_ENST00000543544.1_Nonsense_Mutation_p.W626*|LPO_ENST00000582328.1_Nonsense_Mutation_p.W602*	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	685					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ACCCATTCTGGGCCAACAGCT	0.562000													15	76					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6530577	6530577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6530577C>T	ENST00000377748.1	-	16	2397	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E594K|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E634K|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E626K|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E557K|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E613K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E557K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E557K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E557K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E557K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E557K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E636K	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	613					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCACTTCGTCGCTGCTG	0.687000													5	21					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064421	78064421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:78064421G>A	ENST00000299642.4	+	3	389	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CLEC3A_ENST00000575655.1_Missense_Mutation_p.E93K|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	93	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGAGGCCAATGAAGACTGCAT	0.468000													5	45					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49398412	49398412	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49398412C>T	ENST00000221399.3	-	6	501	c.357G>A	c.(355-357)agG>agA	p.R119R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	119					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GACCGAGATTCCTGAACACTG	0.557000													7	71					0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52433395	52433395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52433395G>A	ENST00000261837.7	-	7	634	c.569C>T	c.(568-570)tCt>tTt	p.S190F	GNB5_ENST00000358784.7_Missense_Mutation_p.S148F|GNB5_ENST00000396335.4_Intron	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	190						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CATAGCAACAGACTTCTTTTT	0.473000													5	52					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470177	10470177	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10470177C>T	ENST00000382483.3	-	4	1654	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	477					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)		CCACCCCGTCCTCCGGGGTCC	0.692000													8	75					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763433	102763433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763433C>T	ENST00000370220.1	+	2	3641	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LZTS2_ENST00000370223.3_Missense_Mutation_p.S193F			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	193	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		tcctcctcttcctcctcctct	0.642000													33	157					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228476242	228476242	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228476242G>A	ENST00000264387.4	-	3	407	c.321C>T	c.(319-321)gcC>gcT	p.A107A	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	107						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						AGAGAGTTTCGGCTGAAGCCT	0.547000													25	97					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5396314	5396314	+	Silent	SNP	C	C	T	rs148045283	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:5396314C>T	ENST00000341928.2	-	19	3199	c.2859G>A	c.(2857-2859)acG>acA	p.T953T	EPB41L3_ENST00000427684.2_Silent_p.T250T|EPB41L3_ENST00000542146.1_Silent_p.T258T|EPB41L3_ENST00000400111.3_Silent_p.T731T|EPB41L3_ENST00000342933.3_Silent_p.T953T|EPB41L3_ENST00000544123.1_Silent_p.T784T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Silent_p.T731T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	953	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGATGGTTTCCGTCTTCACCG	0.453000													10	60					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12784000	12784000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12784000C>T	ENST00000314124.7	-	5	664	c.308G>A	c.(307-309)gGg>gAg	p.G103E	TMEM40_ENST00000431022.2_Missense_Mutation_p.G119E|TMEM40_ENST00000264728.8_Missense_Mutation_p.G103E|TMEM40_ENST00000435218.2_Missense_Mutation_p.G73E|TMEM40_ENST00000435575.1_Missense_Mutation_p.G27E	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	103						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CTCCCCATGCCCAGGACCTGG	0.507000													7	79					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028440	102028440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102028440C>T	ENST00000510508.4	+	1	753	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	DIO3_ENST00000359323.3_Missense_Mutation_p.P177S			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	177					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GGAAGCGCACCCCTCCGACGG	0.637000													9	96					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57473199	57473199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57473199G>A	ENST00000394391.4	-	3	446	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CIAPIN1_ENST00000569370.1_Missense_Mutation_p.P69S|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.P56S|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.P69S|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.P69S|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.P69S	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	69					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GTGCTTCCTGGGACTAAACCT	0.483000													23	148					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642195	24642195	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24642195C>T	ENST00000311457.3	+	4	812	c.213C>T	c.(211-213)gcC>gcT	p.A71A	REC8_ENST00000559919.1_Silent_p.A71A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	71					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCTCTCAGCCCAACTTCAGA	0.602000													7	109					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898849	130898849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130898849C>T	ENST00000261655.4	-	14	2636	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	825						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCCCGTAATCGTCTGCGAGC	0.572000													7	89					0	0	1	0	0
FAM24A	118670	broad.mit.edu	37	10	124671177	124671177	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124671177G>A	ENST00000368894.1	+	2	148	c.27G>A	c.(25-27)acG>acA	p.T9T		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	9						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		ATCTCAGGACGAAGATCATGA	0.488000													10	91					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62754737	62754737	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62754737G>A	ENST00000400873.3	-	0	1612					NR_026899.1																						TGAGACAAAGGGAGAAAGCTA	0.378000													17	58					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924324	236924324	+	Missense_Mutation	SNP	G	G	A	rs145450474		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236924324G>A	ENST00000366578.4	+	20	2543	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E793K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E287K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	793	EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGGTGAAGCCGAATTTGCCCG	0.512000													9	55					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35863062	35863062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35863062C>T	ENST00000314607.6	+	20	3195	c.3115C>T	c.(3115-3117)Ccc>Tcc	p.P1039S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P950S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1039					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAAAGCTTCCCACACATCC	0.398000													4	41					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758013	51758013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51758013C>T	ENST00000543196.2	-	5	1146	c.941G>A	c.(940-942)aGg>aAg	p.R314K	GALNT6_ENST00000356317.3_Missense_Mutation_p.R314K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	314					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GACTCTGCCCCTCTGGACGGG	0.562000													4	49					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24955154	24955154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:24955154G>A	ENST00000289968.6	-	15	1340	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.S424F	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	424	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CACATGGACGGATGTGGCTGC	0.448000													5	70					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729201	99729201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:99729201G>A	ENST00000389677.5	-	6	1351	c.1069C>T	c.(1069-1071)Ccg>Tcg	p.P357S	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.P77S	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	357																	TCCAGCAGCGGGGTGTGGGTT	0.473000													7	21					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Silent	SNP	C	C	T	rs139135884	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57947582C>T	ENST00000335397.3	+	3	982	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512000													8	30					0	0	1	0	0
NOM1	64434	broad.mit.edu	37	7	156752695	156752695	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:156752695T>C	ENST00000275820.3	+	4	1474	c.1459T>C	c.(1459-1461)Ttg>Ctg	p.L487L	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	487	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCGACATTTTGAAAAAACT	0.388000													7	43					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35936467	35936467	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35936467C>T	ENST00000325722.3	-	6	1344	c.1110G>A	c.(1108-1110)tcG>tcA	p.S370S	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	370	PKD 1.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTCACCTTCGATAGTTTGA	0.403000													15	66					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685505	53685505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53685505C>T	ENST00000257934.4	+	26	5643	c.5552C>T	c.(5551-5553)cCt>cTt	p.P1851L	ESPL1_ENST00000552462.1_Missense_Mutation_p.P1851L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1851					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCCTCACCCCTCAGGACATT	0.587000													15	170					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140790093	140790093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140790093C>T	ENST00000520790.1	+	1	2324	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTACATTCCAATGAAGAC	0.438000													7	77					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016868	58016868	+	Missense_Mutation	SNP	C	C	T	rs138048824		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58016868C>T	ENST00000379218.2	+	7	1312	c.1001C>T	c.(1000-1002)tCg>tTg	p.S334L	SLC26A10_ENST00000320442.4_Missense_Mutation_p.S334L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	334						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCCCAACTCGGCTACGCTG	0.547000													16	186					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823004	38823004	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38823004G>A	ENST00000303592.3	-	2	1392	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	378					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGCTCATAAGGGCCAGCTCGT	0.706000													6	107					0	0	1	0	0
RGP1	9827	broad.mit.edu	37	9	35751721	35751721	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35751721C>T	ENST00000378078.4	+	7	873	c.732C>T	c.(730-732)aaC>aaT	p.N244N	RGP1_ENST00000456972.2_Silent_p.N284N	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	244										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGACCTTAAACTTAGGGGAAG	0.517000													5	89					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790988	133790988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:133790988G>A	ENST00000321016.8	-	18	2862	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P878S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	878						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCGGCGAAGGGGAAGCCCTCG	0.657000													5	59					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36767781	36767781	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36767781A>C	ENST00000244751.2	-	4	874	c.250T>G	c.(250-252)Tac>Gac	p.Y84D		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	84	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGAAAAAGTAATCCACAATG	0.522000													6	36					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185797717	185797717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185797717G>A	ENST00000306376.5	-	7	785	c.539C>T	c.(538-540)tCg>tTg	p.S180L	ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000434744.1_Missense_Mutation_p.S180L|ETV5_ENST00000537818.1_Missense_Mutation_p.S222L	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	180					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTCTGGAAGCGAATGGGGGGC	0.617000			T	"""TMPRSS2, SCL45A3"""	Prostate								5	70					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114169359	114169359	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114169359C>T	ENST00000393081.1	+	7	934	c.627C>T	c.(625-627)atC>atT	p.I209I	ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000354273.4_Silent_p.I209I|ACSL5_ENST00000433418.1_Silent_p.I209I|ACSL5_ENST00000356116.1_Silent_p.I265I|ACSL5_ENST00000354655.4_Silent_p.I209I	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	209					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TGAAGGTGATCATCCTTATGG	0.468000													8	70					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247712508	247712508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247712508C>T	ENST00000366490.3	+	4	535	c.377C>T	c.(376-378)tCc>tTc	p.S126F	GCSAML_ENST00000366489.1_Silent_p.L5L|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Silent_p.L5L|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366488.4_Silent_p.L5L|GCSAML_ENST00000366491.2_Silent_p.L5L|GCSAML_ENST00000463359.1_Intron					germinal center-associated, signaling and motility-like																		GAAATTATCTCCTGCGAAAAC	0.468000													9	43					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	665953	665953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:665953C>T	ENST00000262109.7	-	2	154	c.77G>A	c.(76-78)gGa>gAa	p.G26E	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	26										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TTCCCTCTTTCCTTGGCCACT	0.468000													14	85					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460757	142460757	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142460757C>T	ENST00000486171.1	+	6	689	c.672C>T	c.(670-672)ctC>ctT	p.L224L	PRSS1_ENST00000311737.7_Silent_p.L210L			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	210	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ATGGACAGCTCCAAGGAGTTG	0.498000													24	53					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43827616	43827616	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:43827616C>T	ENST00000402924.1	+	4	289	c.126C>T	c.(124-126)ttC>ttT	p.F42F	BLVRA_ENST00000265523.4_Silent_p.F42F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	42					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGATTGGCTTCGTGTCGAGGT	0.562000													28	96					0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037337	220037337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220037337G>A	ENST00000409789.1	-	9	1631	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	CNPPD1_ENST00000360507.5_Missense_Mutation_p.R402C			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	402					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GACTTGAGGCGAGCCAGCTCC	0.542000													13	90					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760565	92760565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:92760565C>T	ENST00000318238.4	-	5	5936	c.4720G>A	c.(4720-4722)Gaa>Aaa	p.E1574K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1574K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1574K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1574										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)			AGAGGGCCTTCAATGGAAAAT	0.323000													3	7					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26105947	26105947	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26105947G>A	ENST00000313735.6	-	10	1373	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	380					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGAAGTCCCGGACTCCGATCT	0.637000													15	66					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373378	56373378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56373378C>T	ENST00000301295.6	+	5	2461	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S680F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S605F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	680							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTTCCTTTTCTGGCCAGAGT	0.433000													6	53					0	0	1	0	0
TRAJ30	28725	broad.mit.edu	37	14	22981873	22981873	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22981873G>A	ENST00000390507.1	+	0	40																											AAAGGGACACGACTTCATATT	0.408000													4	12					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43930062	43930062	+	Missense_Mutation	SNP	C	C	T	rs138656425	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43930062C>T	ENST00000537548.1	-	5	909	c.665G>A	c.(664-666)gGg>gAg	p.G222E	MATN4_ENST00000342716.4_Missense_Mutation_p.G222E|MATN4_ENST00000372753.1_Missense_Mutation_p.G73E|MATN4_ENST00000372751.4_Missense_Mutation_p.G73E|MATN4_ENST00000372756.1_Missense_Mutation_p.G222E|MATN4_ENST00000360607.5_Intron|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.G263E			O95460	MATN4_HUMAN	matrilin 4	263	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCCATGGGTCCCTTCAGCACA	0.527000													3	30					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568213	7568213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:7568213C>T	ENST00000340209.4	+	2	404	c.107C>T	c.(106-108)gCt>gTt	p.A36V	RBFOX1_ENST00000547372.1_Missense_Mutation_p.A74V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A31V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A31V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A51V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A67V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A51V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A67V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A51V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A74V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A31V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	31					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCCCAGTTTGCTCCCCCGCAG	0.592000													7	116					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47606461	47606461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47606461G>A	ENST00000371891.3	+	2	236	c.205G>A	c.(205-207)Gac>Aac	p.D69N	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D69N|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.D69N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	69						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTCCAACACGACCAGGAGCT	0.498000													10	65					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144354782	144354782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:144354782C>T	ENST00000262995.4	+	3	933	c.506C>T	c.(505-507)cCa>cTa	p.P169L	GAB1_ENST00000262994.4_Missense_Mutation_p.P169L|GAB1_ENST00000505913.1_Missense_Mutation_p.P66L	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	169					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					AATGTTCCACCACACCTGGAA	0.453000													9	28					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288234	132288234	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132288234G>A	ENST00000467992.2	+	1	998	c.684G>A	c.(682-684)gaG>gaA	p.E228E	CCDC74A_ENST00000295171.6_Silent_p.E126E|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	126										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGTGGGTAGAGCCGGGAGGAC	0.667000													9	48					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237308122	237308122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:237308122C>T	ENST00000409907.3	-	9	1418	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	IQCA1_ENST00000431676.2_Missense_Mutation_p.E341K|IQCA1_ENST00000309507.5_Missense_Mutation_p.E378K|IQCA1_ENST00000465621.1_5'UTR			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	382	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTCCATTTTTCGTCTTCTTCC	0.458000													23	89					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9045903	9045903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9045903C>T	ENST00000397910.4	-	5	35931	c.35728G>A	c.(35728-35730)Gat>Aat	p.D11910N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11912	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGCTTATCAGTTGTTATA	0.507000													13	57					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62370894	62370894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:62370894G>A	ENST00000519846.1	+	6	1242	c.770G>A	c.(769-771)aGc>aAc	p.S257N	CLVS1_ENST00000325897.4_Missense_Mutation_p.S257N|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	257	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AATTTAAACAGCCTTCACCAG	0.398000													6	56					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140637883	140637883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140637883C>T	ENST00000460843.1	+	5	911	c.884C>T	c.(883-885)aCc>aTc	p.T295I	EHMT1_ENST00000462484.1_Missense_Mutation_p.T295I|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.T264I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	295					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGAATGGGAACCTATAGCCTG	0.383000													4	18					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79364480	79364480	+	RNA	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:79364480G>C	ENST00000444841.1	-	0	166																											TGGGAAAAGAGAGACAATTAA	0.488000													3	4					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054225	29054225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29054225G>A	ENST00000257189.4	+	15	2326	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGCTTCAGGATTCGGAGCA	0.532000													6	23					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20216943	20216943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20216943G>A	ENST00000375120.3	+	2	288	c.287G>A	c.(286-288)aGa>aAa	p.R96K		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	96	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAAGCACAGACAGGAGACA	0.438000													5	57					0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395636	67395636	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67395636G>A	ENST00000376693.2	-	4	501	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	164	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						GTGTGTAGCGGAAGTGGCCAC	0.617000													11	66					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39776394	39776394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39776394C>T	ENST00000518237.1	+	4	1003	c.364C>T	c.(364-366)Cct>Tct	p.P122S	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.P122S|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	122					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GGAACTGCCTCCTATTTTGGT	0.373000													4	68					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272748	52272748	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52272748C>T	ENST00000598776.1	+	2	1609	c.837C>T	c.(835-837)atC>atT	p.I279I	FPR2_ENST00000340023.6_Silent_p.I279I|FPR2_ENST00000598953.1_Silent_p.I279I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	279					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGTACAAAATCATTGACATCC	0.498000													10	52					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049648	107049648	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107049648C>A	ENST00000409886.3	-	16	2386	c.2299G>T	c.(2299-2301)Ggt>Tgt	p.G767C	RGPD3_ENST00000304514.7_Missense_Mutation_p.G767C	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	767					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CGCAAAGAACCATTTTTATAG	0.383000													9	210					0.000442599	0.000447677	1	1	0
CPA6	57094	broad.mit.edu	37	8	68658271	68658271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:68658271G>A	ENST00000297770.4	-	1	309	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	CPA6_ENST00000518549.1_Missense_Mutation_p.L32F|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	32					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532000													4	22					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2525331	2525331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2525331C>T	ENST00000288709.6	-	19	2002	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E597K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E440K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	597					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TGTGGCTGCTCCTTGCTGAAG	0.592000													11	43					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119554781	119554781	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:119554781G>A	ENST00000267260.4	+	4	793	c.405G>A	c.(403-405)aaG>aaA	p.K135K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	135	Lys-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAAAAAGAAGAAGAAAAGTT	0.488000													4	34					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926661	157926661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:157926661C>T	ENST00000389413.3	-	9	1367	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PTPRN2_ENST00000389416.4_Missense_Mutation_p.D405N|PTPRN2_ENST00000389418.4_Missense_Mutation_p.D422N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.D445N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.D384N	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	422						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCTCCATGTCGAGGGGCCTT	0.587000													12	65					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438337	90438337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90438337G>A	ENST00000394375.3	+	11	1239	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	LIPF_ENST00000238983.4_Missense_Mutation_p.E366K|LIPF_ENST00000355843.2_Missense_Mutation_p.E333K	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	366					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTACCACAAGGAGATTCCTTT	0.418000													5	45					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160074104	160074104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160074104C>T	ENST00000263635.6	+	20	3578	c.3341C>T	c.(3340-3342)cCa>cTa	p.P1114L	TANC1_ENST00000454300.1_Missense_Mutation_p.P1008L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1114						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGGGGTTCCACCTTTGTTT	0.597000													13	88					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766566	57766566	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57766566G>A	ENST00000371030.2	+	1	492	c.492G>A	c.(490-492)cgG>cgA	p.R164R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	164						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCACATCCGGTCCCACACGG	0.627000													13	115					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713957	138713957	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138713957G>A	ENST00000389532.4	-	11	2614	c.2550C>T	c.(2548-2550)gcC>gcT	p.A850A	CAMSAP1_ENST00000409386.3_Silent_p.A861A|CAMSAP1_ENST00000312405.6_Silent_p.A572A|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	850						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCGTCAGAGGGGCTGGGCAGC	0.617000													4	17					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706869	96706869	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96706869C>T	ENST00000542454.2	+	3	3211	c.123C>T	c.(121-123)ttC>ttT	p.F41F	BDKRB2_ENST00000554311.1_Silent_p.F68F|BDKRB2_ENST00000539359.1_Silent_p.F41F|BDKRB2_ENST00000306005.3_Silent_p.F68F|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	68					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GGGTGCTGTTCGTGCTGGCCA	0.612000													18	131					0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389900	57389900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57389900G>A	ENST00000300098.1	+	2	1126	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTTCTATGATGTCATTGA	0.552000													20	202					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30416356	30416356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30416356C>T	ENST00000333027.3	+	17	3036	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F	MTMR3_ENST00000351488.3_Missense_Mutation_p.S903F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S767F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S903F|MTMR3_ENST00000401950.2_Missense_Mutation_p.S903F	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	903					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CATAGGACTTCCCTTGGCAGC	0.562000													7	60					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206240150	206240150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206240150G>A	ENST00000331555.5	-	5	940	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	101						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGCAGGAGGCGAACTGCAGGA	0.512000													6	58					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100934401	100934401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100934401C>T	ENST00000335290.6	+	3	1092	c.866C>T	c.(865-867)tCc>tTc	p.S289F	WDR25_ENST00000402312.3_Missense_Mutation_p.S289F|WDR25_ENST00000542471.2_Missense_Mutation_p.S32F|WDR25_ENST00000554998.1_Missense_Mutation_p.S289F	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	289										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CAGACCTACTCCCTGCACACA	0.632000													8	140					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100127916	100127916	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100127916G>A	ENST00000263174.4	+	2	462	c.87G>A	c.(85-87)ctG>ctA	p.L29L	PALMD_ENST00000605497.1_Silent_p.L29L	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	29					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAAGCGTCTGAAAATAGAGG	0.269000													8	17					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50399229	50399229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50399229G>A	ENST00000595948.1	-	5	781	c.161C>T	c.(160-162)cCc>cTc	p.P54L	IL4I1_ENST00000391826.2_Missense_Mutation_p.P32L|IL4I1_ENST00000341114.3_Missense_Mutation_p.P54L	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	32						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TTTCTCGAAGGGGTCTTGGCT	0.617000													6	57					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35048896	35048896	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35048896C>T	ENST00000360359.3	+	17	2808	c.2670C>T	c.(2668-2670)gaC>gaT	p.D890D	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	890						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTCTCCATGACCCTGCGGCAC	0.652000													4	29					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31018985	31018985	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31018985C>T	ENST00000215838.3	+	8	1631	c.1137C>T	c.(1135-1137)ccC>ccT	p.P379P	TCN2_ENST00000405742.3_Silent_p.P375P|TCN2_ENST00000407817.3_Silent_p.P352P			P20062	TCO2_HUMAN	transcobalamin II	379					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCAGGCCCCTACTTAACCT	0.567000													6	78					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785708	140785708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785708C>T	ENST00000370515.3	-	2	541	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGGGCGTGGTCATTCACCAGT	0.443000													15	133					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21827146	21827146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21827146C>T	ENST00000328843.6	+	61	9921	c.9890C>T	c.(9889-9891)tCt>tTt	p.S3297F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S3290F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3297	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGAACCAAATCTTTTGCAGCA	0.393000									Kartagener syndrome				5	11					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47309289	47309289	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47309289G>A	ENST00000396220.1	-	8	979	c.957C>T	c.(955-957)tcC>tcT	p.S319S	PREX1_ENST00000371941.3_Silent_p.S319S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	319	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCCGTTGATGGATTTGGTCC	0.537000													10	92					0	0	1	0	0
SSBP3	23648	broad.mit.edu	37	1	54707859	54707859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54707859G>A	ENST00000371320.3	-	11	1153	c.743C>T	c.(742-744)cCc>cTc	p.P248L	SSBP3_ENST00000371319.3_Missense_Mutation_p.P221L|SSBP3_ENST00000357475.4_Missense_Mutation_p.P228L|SSBP3_ENST00000417664.2_Missense_Mutation_p.P138L|SSBP3_ENST00000326956.7_5'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	248	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GTTAGGATTGGGCCAGGGTCT	0.602000													9	198					0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120636466	120636466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120636466G>A	ENST00000551150.1	-	5	857	c.542C>T	c.(541-543)tCc>tTc	p.S181F	RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.S181F|RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.S181F			P05388	RLA0_HUMAN	ribosomal protein, large, P0	181					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGAAGGGGGAGATGTTGAG	0.522000													5	53					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115986989	115986989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115986989G>A	ENST00000251864.2	+	23	3487	c.3334G>A	c.(3334-3336)Gct>Act	p.A1112T	TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.A998T|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1112					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTCGATGTAGCTGATAAGCT	0.363000													4	46					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641171	29641171	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29641171G>A	ENST00000376883.1	-	6	1068	c.657C>T	c.(655-657)acC>acT	p.T219T	ZFP57_ENST00000488757.1_Silent_p.T239T|ZFP57_ENST00000376881.3_Silent_p.T219T			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	155					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CATCACAGTAGGTCTTGTCAC	0.572000													6	63					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31918460	31918460	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31918460G>A	ENST00000456570.1	+	25	3250	c.3195G>A	c.(3193-3195)ggG>ggA	p.G1065G	CFB_ENST00000477310.1_Silent_p.G914G|CFB_ENST00000556679.1_Silent_p.G1065G|CFB_ENST00000425368.2_Silent_p.G563G			P00751	CFAB_HUMAN	complement factor B	563					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACATTAATGGGAAAAAAGAAG	0.458000													18	328					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523742	38523742	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38523742C>T	ENST00000352511.3	+	9	1600	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	376	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCATCAACTTCCAGAGAGATG	0.557000													3	24					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63834042	63834042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:63834042C>T	ENST00000233114.8	+	9	1361	c.926C>T	c.(925-927)tCa>tTa	p.S309L	MDH1_ENST00000539945.1_Missense_Mutation_p.S327L|MDH1_ENST00000409476.1_Missense_Mutation_p.S185L|MDH1_ENST00000409908.1_Missense_Mutation_p.S144L|MDH1_ENST00000394423.1_Missense_Mutation_p.S309L|MDH1_ENST00000544381.1_Missense_Mutation_p.S220L	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	309					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	AATGATTTCTCACGTGAGAAG	0.343000													10	49					0	0	1	0	0
FOSB	2354	broad.mit.edu	37	19	45974140	45974140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45974140G>A	ENST00000353609.3	+	2	972	c.380G>A	c.(379-381)gGa>gAa	p.G127E	FOSB_ENST00000417353.2_Missense_Mutation_p.G127E|FOSB_ENST00000590335.1_Missense_Mutation_p.G127E|FOSB_ENST00000592811.1_Missense_Mutation_p.G78E|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G127E|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.G88E|FOSB_ENST00000586615.1_Missense_Mutation_p.G78E|FOSB_ENST00000591858.1_Missense_Mutation_p.G88E	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	127					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TCCACCAGCGGAACTACCAGT	0.657000													5	80					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40668752	40668752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:40668752C>T	ENST00000298910.7	+	16	1956	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	LRRK2_ENST00000343742.2_Missense_Mutation_p.S633F	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	633					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)				ATTCTGGTTTCCAGCTTATAC	0.368000													3	13					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096546	107096546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:107096546C>T	ENST00000261058.1	+	1	359	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	38			R -> Q (in dbSNP:rs709564).							NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGTAAGATTCGGCACCAAGA	0.403000													4	42					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558932	140558932	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140558932C>T	ENST00000239444.2	+	1	1562	c.1317C>T	c.(1315-1317)acC>acT	p.T439T		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATATGACCGTGCTGGTGT	0.567000													8	99					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7681415	7681415	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7681415C>T	ENST00000572933.1	+	34	6728	c.5268C>T	c.(5266-5268)atC>atT	p.I1756I	DNAH2_ENST00000389173.2_Silent_p.I1756I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTGTGTCATCCGCCAGACCA	0.532000													5	49					0	0	1	0	0
TSACC	128229	broad.mit.edu	37	1	156314452	156314452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156314452C>T	ENST00000368255.3	+	3	476	c.116C>T	c.(115-117)tCc>tTc	p.S39F	TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368252.1_Missense_Mutation_p.S39F|TSACC_ENST00000368253.1_Missense_Mutation_p.S39F|TSACC_ENST00000368251.1_Missense_Mutation_p.S39F|TSACC_ENST00000368254.1_Missense_Mutation_p.S39F	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		CAAGCAAGTTCCCCACCAGCC	0.473000													18	87					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183807	197183807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197183807G>A	ENST00000260983.2	-	9	1989	c.1807C>T	c.(1807-1809)Cag>Tag	p.Q603*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.Q247*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	603					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGAGCCCTGATCGAGAGAC	0.587000													4	31					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616263	140616263	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140616263C>T	ENST00000526308.1	+	0	2326					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						GGCGGTGCGGCTGTGCAGGAG	0.672000													8	156					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590535	156590535	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156590535C>T	ENST00000302938.4	-	2	836	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	247	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGGAGAAGCCGCACTAGCCG	0.582000													5	88					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102460584	102460584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102460584C>T	ENST00000360184.4	+	12	3243	c.3079C>T	c.(3079-3081)Cct>Tct	p.P1027S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1027	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACACGGATGCCTGATGGCCC	0.438000													13	94					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211505	59211505	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:59211505G>A	ENST00000302030.2	+	1	889	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TCCCCATGCTGAACCCTCTCA	0.473000													8	61					0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842335	32842335	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32842335G>A	ENST00000341071.7	-	9	746	c.735C>T	c.(733-735)ctC>ctT	p.L245L	BSDC1_ENST00000526031.1_Silent_p.L133L|BSDC1_ENST00000419121.2_Silent_p.L172L|BSDC1_ENST00000413080.1_Silent_p.L167L|BSDC1_ENST00000449308.1_Silent_p.L228L|BSDC1_ENST00000446293.2_Silent_p.L245L|BSDC1_ENST00000455895.2_Silent_p.L228L			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	228							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AAATGCCCATGAGCTCCTCTG	0.512000													7	36					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132258	57132258	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57132258G>A	ENST00000296318.7	-	12	1561	c.1473C>T	c.(1471-1473)atC>atT	p.I491I	IL17RD_ENST00000463523.1_Silent_p.I347I|IL17RD_ENST00000427856.2_Silent_p.I467I|IL17RD_ENST00000320057.5_Silent_p.I347I	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	491	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TCAGGTCTAGGATACCGGGGA	0.582000													4	26					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70730013	70730013	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70730013C>T	ENST00000354185.4	+	8	1391	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	431	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGATGTCATCCGAGTATATA	0.423000													4	36					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379079	25379079	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25379079C>T	ENST00000315368.3	+	2	172	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ANAPC4_ENST00000510092.1_Silent_p.S10S	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCCATCCTTCCGGGTGG	0.632000													5	36					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428187	10428187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10428187G>A	ENST00000245503.5	-	34	5242	c.4858C>T	c.(4858-4860)Ctc>Ttc	p.L1620F	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1620F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1620					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTTCTTGAGCCTAATGGCA	0.502000													8	71					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14317411	14317411	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:14317411A>G	ENST00000545643.1	-	2	430	c.117T>C	c.(115-117)ctT>ctC	p.L39L	RRAS2_ENST00000256196.4_Intron|RRAS2_ENST00000534746.1_Intron|RRAS2_ENST00000532814.1_Intron|RRAS2_ENST00000537760.1_Intron|RRAS2_ENST00000526063.1_Intron|RRAS2_ENST00000529237.1_Intron	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	36						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		ACTGCAAGAAAAGAAAAAACT	0.438000													4	33					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84287021	84287021	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:84287021C>T	ENST00000324537.5	+	12	1542	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	SH3GL3_ENST00000434347.1_Silent_p.I350I|SH3GL3_ENST00000427482.2_Silent_p.I342I|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	342					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGGAAGTGATCGTGCCTTTAC	0.408000													4	44					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775158	72775158	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72775158C>T	ENST00000299687.5	+	8	5481	c.5481C>T	c.(5479-5481)ttC>ttT	p.F1827F		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGCCACCTTCGTGGAGACAG	0.607000													19	123					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103305	6103305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6103305C>T	ENST00000261405.5	-	37	6575	c.6321G>A	c.(6319-6321)tgG>tgA	p.W2107*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2107	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAAGTGTTTTCCAGTCTGTGG	0.522000													5	50					0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3524632	3524632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3524632G>A	ENST00000225519.3	-	5	824	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	241					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CCACATGTGGGAAGTTCTGCC	0.567000													7	62					0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229613413	229613413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:229613413G>A	ENST00000261396.3	-	13	1778	c.1687C>T	c.(1687-1689)Caa>Taa	p.Q563*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.Q547*|NUP133_ENST00000366679.1_Nonsense_Mutation_p.Q563*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	563					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACTGATTTGGGTAACTGCC	0.453000													7	30					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124005659	124005659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124005659C>T	ENST00000456829.2	+	12	1528	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.S426F	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	426	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GAAGGCACCTCCACCAGCCTA	0.438000													7	25					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41223735	41223735	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41223735C>T	ENST00000249749.5	+	4	705	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	143					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCAGCAAGATCGCCATCCAGG	0.612000													4	11					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84108247	84108247	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84108247G>A	ENST00000343411.3	-	12	2043	c.1548C>T	c.(1546-1548)gtC>gtT	p.V516V	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	516					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGAGGATGGTGACATTAACAA	0.493000													7	36					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814561	156814561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156814561C>T	ENST00000368195.3	-	13	2908	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	838	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGGTGGCTCGAGCCAGCGC	0.627000													10	60					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144641705	144641705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144641705C>T	ENST00000526406.1	+	5	1083	c.200C>T	c.(199-201)cCg>cTg	p.P67L	GSDMD_ENST00000533063.1_Missense_Mutation_p.P115L|GSDMD_ENST00000262580.4_Missense_Mutation_p.P67L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	67										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCCTGGAGCCGGATGCCGCG	0.607000													15	91					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10586532	10586532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10586532C>T	ENST00000265012.4	+	1	554	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	104						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CATGGTCATCCATAAGGACTT	0.468000													4	31					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426457	74426457	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74426457G>A	ENST00000361742.3	+	4	2131	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	ISLR2_ENST00000435464.1_Silent_p.A454A|ISLR2_ENST00000453268.2_Silent_p.A454A|ISLR2_ENST00000445793.1_Silent_p.A454A|ISLR2_ENST00000565540.1_Silent_p.A454A|ISLR2_ENST00000565159.1_Silent_p.A454A|ISLR2_ENST00000419208.1_Silent_p.A454A|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	454					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGGACCCGGCGGAGGAGCAGC	0.657000													8	19					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576467	98576467	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98576467C>T	ENST00000359863.4	+	57	8762	c.8553C>T	c.(8551-8553)ctC>ctT	p.L2851L	TRRAP_ENST00000355540.3_Silent_p.L2833L|TRRAP_ENST00000446306.3_Silent_p.L2833L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2851	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCCTACCTCGTCCTGGAGT	0.627000													19	104					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814360	123814360	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123814360G>A	ENST00000321252.2	-	1	220	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AATTCCGCAGGAAGAAGTACA	0.488000													8	43					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005525	25005525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25005525G>A	ENST00000382114.4	-	8	1371	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	396						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGGATGATGGGGACCTGGGAG	0.517000													5	83					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116445248	116445248	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:116445248C>A	ENST00000281928.3	-	11	2412	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	736					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTCTCCGTCCCTTGTTTGCAT	0.408000													4	27					0.150653	0.151545	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103900141	103900141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:103900141C>T	ENST00000278070.2	+	5	1915	c.1876C>T	c.(1876-1878)Ccg>Tcg	p.P626S	PPRC1_ENST00000413464.2_Missense_Mutation_p.P626S	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGAGCCTCTCCCGGCTGAGCC	0.562000													10	55					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24426228	24426228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24426228G>A	ENST00000330966.7	-	6	763	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	MYOM3_ENST00000329601.7_Missense_Mutation_p.R200C|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.R200C			Q5VTT5	MYOM3_HUMAN	myomesin 3	200	Ig-like C2-type 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTTCCGGCACGAAAGAGGCGG	0.572000													9	89					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715383	222715383	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222715383G>A	ENST00000343410.6	-	3	1147	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	363					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACAGGCCAAAGGGATCTCCAG	0.532000													25	429					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7680638	7680638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:7680638G>A	ENST00000340209.4	+	8	1022	c.725G>A	c.(724-726)gGa>gAa	p.G242E	RBFOX1_ENST00000547372.1_Missense_Mutation_p.G280E|RBFOX1_ENST00000550418.1_Missense_Mutation_p.G237E|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G257E|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G254E|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G257E|RBFOX1_ENST00000535565.2_Missense_Mutation_p.G194E|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G257E|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G280E|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G237E			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	237					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AACCAGGAGGGATCTTCCATG	0.488000													4	35					0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565524	69565524	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:69565524C>A	ENST00000225171.2	-	4	471	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	DNAJC12_ENST00000483798.2_Missense_Mutation_p.G137C	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	107					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TCTTTTTTACCTCTGACAACC	0.318000													8	47					0.000157383	0.000159302	1	1	0
CDH6	1004	broad.mit.edu	37	5	31313513	31313513	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:31313513C>T	ENST00000265071.2	+	8	1607	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.R393*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	448	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCTTGACCGAGAAACACT	0.413000													7	51					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73746258	73746258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73746258G>A	ENST00000200181.3	+	28	3570	c.3383G>A	c.(3382-3384)gGc>gAc	p.G1128D	ITGB4_ENST00000579662.1_Missense_Mutation_p.G1128D|ITGB4_ENST00000450894.3_Missense_Mutation_p.G1128D|ITGB4_ENST00000449880.2_Missense_Mutation_p.G1128D|ITGB4_ENST00000339591.3_Missense_Mutation_p.G1128D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1128	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGACCTGGGCGCCCCGCAG	0.617000											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	74					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156729833	156729833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156729833C>T	ENST00000347377.6	+	7	1032	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	CYFIP2_ENST00000318218.6_Missense_Mutation_p.P201S|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Missense_Mutation_p.P201S|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.P126S|CYFIP2_ENST00000521420.1_Missense_Mutation_p.P175S	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	201					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATGGCAGATCCCCAGTCTAT	0.572000													17	158					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670049	158670049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158670049G>A	ENST00000359610.2	-	1	437	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGATAGAGGGATAATGAAGA	0.478000													10	37					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38755509	38755509	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38755509G>A	ENST00000449082.2	-	21	3743	c.3744C>T	c.(3742-3744)gcC>gcT	p.A1248A		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1248					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGTTCGAAGGGCTTTGATGG	0.512000													8	46					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34043183	34043183	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:34043183G>A	ENST00000382065.3	-	1	754	c.48C>T	c.(46-48)ttC>ttT	p.F16F	C1QTNF3_ENST00000231338.7_Silent_p.F16F	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					AAAAAGGGAGGAAAAACAAAG	0.493000													6	40					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001873	98001873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98001873C>T	ENST00000355273.2	+	1	142	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTGTGGAACCTTGGTCTGAT	0.433000													11	94					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98996762	98996762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98996762G>A	ENST00000393504.1	+	4	757	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CNGA3_ENST00000272602.2_Missense_Mutation_p.E114K|CNGA3_ENST00000436404.2_Missense_Mutation_p.E114K|CNGA3_ENST00000409937.1_Missense_Mutation_p.E118K	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	114					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTCCAGCCAAGAAAGCAATGC	0.607000													7	55					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011769	31011769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31011769C>T	ENST00000215838.3	+	6	1429	c.935C>T	c.(934-936)cCa>cTa	p.P312L	TCN2_ENST00000405742.3_Missense_Mutation_p.P308L|TCN2_ENST00000407817.3_Missense_Mutation_p.P285L			P20062	TCO2_HUMAN	transcobalamin II	312					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTGGCACCACGAGGTAGC	0.527000													5	84					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50385350	50385350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50385350C>T	ENST00000221543.5	+	6	879	c.580C>T	c.(580-582)Ctc>Ttc	p.L194F	TBC1D17_ENST00000535102.2_Missense_Mutation_p.L161F	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	194						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTCCTCTGCTCTCTCCAACTC	0.647000													37	248					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42860341	42860341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42860341C>T	ENST00000398585.3	-	5	596	c.536G>A	c.(535-537)gGg>gAg	p.G179E	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.G142E|TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.G142E	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	142	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CTCGTCCTCCCCGCCGGGGCA	0.612000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								9	39					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249002	124249002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124249002G>A	ENST00000368984.3	+	3	765	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	213	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GTCGGAAGATGGACTGATCGT	0.498000													5	100					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793932	167793932	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167793932G>A	ENST00000367848.1	-	27	4133	c.3636C>T	c.(3634-3636)ttC>ttT	p.F1212F	ADCY10_ENST00000367851.4_Silent_p.F1304F|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Silent_p.F1151F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1304					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGCTTGTTGAAGACCAGTG	0.498000													15	201					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233897394	233897394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233897394C>T	ENST00000233840.3	+	1	13	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	5							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GGCGTCCCTTCCTGTCCTGCA	0.617000													10	140					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813931	42813931	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42813931C>T	ENST00000499536.2	+	1	1006	c.195C>T	c.(193-195)acC>acT	p.T65T	PRR19_ENST00000341747.3_Silent_p.T65T|PRR19_ENST00000598490.1_Silent_p.T65T			A6NJB7	PRR19_HUMAN	proline rich 19	65										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTCATAACCCAGGGCCGGC	0.637000													20	130					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99739584	99739584	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:99739584G>A	ENST00000389677.5	-	5	1218	c.936C>T	c.(934-936)atC>atT	p.I312I	FAXC_ENST00000538471.1_Silent_p.I32I	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	312																	GCTTGCCTTTGATCAGCCGTT	0.542000													12	76					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145532615	145532615	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145532615C>T	ENST00000528838.1	+	2	301	c.141C>T	c.(139-141)ttC>ttT	p.F47F	HSF1_ENST00000400780.4_5'UTR	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	47						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TCCACGTGTTCGACCAGGGCC	0.627000													5	97					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9077304G>A	ENST00000397910.4	-	3	10345	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3382	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTGTCAATGAGCTCACAGA	0.473000													9	95					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924777	89924777	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89924777C>T	ENST00000378247.3	+	8	1177	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	SPIRE2_ENST00000393062.2_Silent_p.A378A	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	378					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCCTCAACGCCTGCTCCGGAG	0.677000													17	113					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063279	194063279	+	Silent	SNP	C	C	T	rs141207947		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194063279C>T	ENST00000323830.3	-	2	242	c.153G>A	c.(151-153)acG>acA	p.T51T	CPN2_ENST00000429275.1_Silent_p.T51T	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	51					protein stabilization	extracellular region	enzyme regulator activity	p.T51T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGATGTTTTTCGTATATGGCG	0.537000													5	88					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131639260	131639260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131639260C>T	ENST00000368648.3	-	14	1454	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q	EBF3_ENST00000355311.5_Missense_Mutation_p.R470Q	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	470					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.R461Q(1)|p.R470Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GACGTAGCCTCGCGGGGACAC	0.552000													9	126					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48874166	48874166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48874166C>T	ENST00000262105.2	+	2	370	c.161C>T	c.(160-162)tCg>tTg	p.S54L	MCM4_ENST00000523944.1_Missense_Mutation_p.S54L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	54					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGCCAACCTCGCCTGGAGTG	0.587000													9	54					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149502585	149502585	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149502585C>T	ENST00000378016.2	+	0	8398							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)			CTGGCGCAGTCGTTCCCGACT	0.672000													10	50					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868693	129868693	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129868693C>T	ENST00000254667.3	+	14	1551	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	PTPRE_ENST00000419012.2_Silent_p.I424I|PTPRE_ENST00000306042.5_Silent_p.I366I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	424					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TCGACAAGATCGGGCTGGAGG	0.567000													4	30					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059074	248059074	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248059074C>T	ENST00000537741.1	+	3	443	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR2W3_ENST00000360358.3_Silent_p.F62F			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTACTTCTTCCTCGCCCACC	0.572000													23	109					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117339	7117339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7117339C>T	ENST00000341500.5	-	21	3880	c.3841G>A	c.(3841-3843)Gac>Aac	p.D1281N	INSR_ENST00000302850.5_Missense_Mutation_p.D1293N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1293	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.D1293Y(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGTGCAGGTCGTCCTTGAGC	0.562000													52	341					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77677740	77677740	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77677740C>T	ENST00000296043.6	+	8	5801	c.4848C>T	c.(4846-4848)tcC>tcT	p.S1616S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1616					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)			CACCACCCTCCTTCATGAGCG	0.567000													10	40					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97770803	97770803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97770803C>T	ENST00000297293.5	+	3	619	c.326C>T	c.(325-327)tCa>tTa	p.S109L	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	109					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCACACTTTCAGTACCAAAT	0.428000													9	89					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818742	54818742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54818742C>T	ENST00000301219.3	-	7	975	c.856G>A	c.(856-858)Gat>Aat	p.D286N	LILRA5_ENST00000346508.3_Missense_Mutation_p.D274N	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	286					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGCCAATCCTGAAATATC	0.527000													5	72					0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35639605	35639605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35639605G>A	ENST00000270310.2	+	2	124	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	FXYD7_ENST00000588265.1_Missense_Mutation_p.E14K|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD7_ENST00000586063.1_Missense_Mutation_p.E14K	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	14						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGCTCCTGAGGAACCTGACCC	0.453000													4	92					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121386	62121386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62121386G>A	ENST00000433197.2	-	22	2991	c.2896C>T	c.(2896-2898)Cca>Tca	p.P966S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	966					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGGGGCTCTGGGGGCTCGTGG	0.647000													21	168					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49586933	49586933	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:49586933G>A	ENST00000371175.4	-	2	326	c.300C>T	c.(298-300)atC>atT	p.I100I	RHAG_ENST00000229810.7_Silent_p.I100I	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	100					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGCTTTGCAGGATTCCCTGTA	0.453000													4	54					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35588003	35588003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35588003C>T	ENST00000542713.1	-	4	456	c.299G>A	c.(298-300)gGa>gAa	p.G100E	FKBP5_ENST00000539068.1_Missense_Mutation_p.G100E|FKBP5_ENST00000357266.4_Missense_Mutation_p.G100E|FKBP5_ENST00000536438.1_Missense_Mutation_p.G100E|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	100	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GCATATCTCTCCTTTCTTCAT	0.433000													4	56					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11111118	11111118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:11111118G>A	ENST00000304623.8	-	14	2504	c.2315C>T	c.(2314-2316)tCg>tTg	p.S772L	CTNND2_ENST00000458100.2_Missense_Mutation_p.S339L|CTNND2_ENST00000511377.1_Missense_Mutation_p.S681L|CTNND2_ENST00000359640.2_Missense_Mutation_p.S772L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S435L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	772					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CAGCCGGTACGAGAGGTTCCT	0.537000													10	94					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800783	185800783	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185800783G>A	ENST00000302277.6	+	4	1254	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	220						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATTTCCAAAGAAAGCGTCCG	0.423000													4	18					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976491	20976491	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20976491C>T	ENST00000261383.3	-	53	8714	c.8715G>A	c.(8713-8715)cgG>cgA	p.R2905R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2905	Stalk (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)		TCAGTCGCTCCCGTTTGGGAG	0.592000													11	142					0	0	1	0	0
RELL1	768211	broad.mit.edu	37	4	37650952	37650952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:37650952G>A	ENST00000454158.2	-	2	347	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	RELL1_ENST00000314117.4_Missense_Mutation_p.R87C	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	87						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GTTGTACAACGATAGCCTTTC	0.433000													9	110					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406955	38406955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38406955G>A	ENST00000322350.5	+	8	1200	c.854G>A	c.(853-855)gGa>gAa	p.G285E	EGFLAM_ENST00000336740.6_Missense_Mutation_p.G51E|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G285E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	285						cell junction|proteinaceous extracellular matrix|synapse		p.G285E(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTACCAAAGGAGGGAATAAG	0.428000													3	22					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	11992146	11992146	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11992146T>C	ENST00000396373.4	+	3	510	c.236T>C	c.(235-237)tTa>tCa	p.L79S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	79	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GAGTTTTCTTTAAGGCCAATT	0.483000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								13	32					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41029282	41029282	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41029282C>T	ENST00000324545.7	+	19	3304	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R891*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	891					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTGTAGTTCGATTTCCAAA	0.408000													15	37					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	78958547	78958547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78958547G>A	ENST00000370756.3	+	2	356	c.119G>A	c.(118-120)gGa>gAa	p.G40E	PTGFR_ENST00000370757.3_Missense_Mutation_p.G40E|PTGFR_ENST00000370758.1_Missense_Mutation_p.G40E	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	40					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATGACAGTGGGAATCTTGTCA	0.468000													8	98					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379523	19379523	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19379523G>A	ENST00000389363.4	-	6	597	c.525C>T	c.(523-525)acC>acT	p.T175T	TM6SF2_ENST00000586107.1_5'UTR|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	175						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGTAGGGGATGGTGAGGAAGA	0.607000													4	35					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224821	26224821	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26224821G>A	ENST00000335473.7	+	15	3115	c.2865G>A	c.(2863-2865)caG>caA	p.Q955Q	MYO18B_ENST00000407587.2_Silent_p.Q955Q|MYO18B_ENST00000536101.1_Silent_p.Q955Q	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	955	Myosin head-like.					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						CCCGGCACCAGGGCAAGGACC	0.607000													6	78					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27350157	27350157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27350157G>A	ENST00000376087.4	-	13	1543	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	ANKRD26_ENST00000436985.2_Intron	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	460						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGCAAGAAGGTATATAAAAC	0.294000													15	90					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48266794	48266794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48266794G>A	ENST00000225964.5	-	39	2891	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	925	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGACCAGGGGGACCAACT	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	77					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723979	99723979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99723979C>T	ENST00000345514.2	-	2	522	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	BCL11B_ENST00000357195.3_Missense_Mutation_p.G86S|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	485						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TAGCAGGCACCCAAGCTGCCG	0.587000			T	TLX3	T-ALL								13	67					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965554	123965554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:123965554C>T	ENST00000314393.4	+	3	2639	c.1804C>T	c.(1804-1806)Caa>Taa	p.Q602*		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	602						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAAAAAGGCCAAGATGTGGG	0.562000													5	47					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47050061	47050061	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47050061C>T	ENST00000450053.3	+	52	8109	c.7930C>T	c.(7930-7932)Ctg>Ttg	p.L2644L	NBEAL2_ENST00000383740.2_Silent_p.L893L|NBEAL2_ENST00000292309.5_Silent_p.L2460L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2644							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGGGCTTCACTGCCCCTGGC	0.587000													9	75					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	375767	375767	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:375767C>A	ENST00000342640.4	-	1	246	c.204G>T	c.(202-204)gaG>gaT	p.E68D	THEG_ENST00000346878.2_Missense_Mutation_p.E68D	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	68					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGCCACCTCCTCGGGGG	0.602000													22	97					6.44725e-10	6.55836e-10	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47940747	47940747	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47940747C>T	ENST00000236877.6	-	8	2477	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000539381.1_Silent_p.Q157Q|SLC8A2_ENST00000542837.1_Silent_p.Q450Q	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	694					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)		CCTCTAAAAACTGCTCCCTCC	0.512000													5	85					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851087	160851087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160851087C>T	ENST00000326245.3	-	5	536	c.421G>A	c.(421-423)Gac>Aac	p.D141N	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	141	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCCTGGATGTCGTAGTAGCCA	0.592000													5	74					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612258	44612258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44612258G>A	ENST00000258772.5	-	4	575	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	DDX56_ENST00000431640.1_Missense_Mutation_p.R157C|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	157	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	p.R157C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AGGGAGTCACGAAGTTTCAGG	0.517000													12	104					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683932	3683932	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3683932G>A	ENST00000344754.4	-	5	1139	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	SIGLEC1_ENST00000202578.4_Silent_p.A380A	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	380	Ig-like C2-type 3.				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						CAGCCCTAGTGGCCAAGTGCA	0.592000													4	48					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671972	39671972	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:39671972C>T	ENST00000398930.1	+	4	1143	c.789C>T	c.(787-789)ccC>ccT	p.P263P	KCNJ15_ENST00000328656.3_Silent_p.P263P|KCNJ15_ENST00000398938.2_Silent_p.P263P|KCNJ15_ENST00000398934.1_Silent_p.P263P|KCNJ15_ENST00000398932.1_Silent_p.P263P			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	263					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						AGACGAGCCCCCTGAGAGACC	0.547000													13	42					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121671	38121671	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121671C>T	ENST00000406386.3	+	7	3363	c.3108C>T	c.(3106-3108)gaC>gaT	p.D1036D	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1036					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCAGCACGACCCCTTCCCCT	0.642000													18	101					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286542	71286542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71286542G>A	ENST00000283228.2	-	2	726	c.274C>T	c.(274-276)Ccg>Tcg	p.P92S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	92					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAGAGACGGGTCATATGCG	0.433000													3	28					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25302064	25302064	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25302064G>A	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							CAAAATGAGTGAGAACTCATA	0.512000													6	81					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956219	18956219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956219G>A	ENST00000302797.3	-	1	337	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	38					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCGACAAGGGAAACGATGCA	0.557000													6	195					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65551587	65551587	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:65551587C>T	ENST00000304874.9	+	7	564	c.462C>T	c.(460-462)ctC>ctT	p.L154L	ASL_ENST00000395331.3_Silent_p.L154L|ASL_ENST00000395332.3_Silent_p.L154L|ASL_ENST00000380839.4_Silent_p.L154L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	154					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGATGTTCTCTTCCCGGGGT	0.632000													4	39					0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14231337	14231337	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14231337G>A	ENST00000263382.3	-	4	1042	c.543C>T	c.(541-543)atC>atT	p.I181I	ASF1B_ENST00000592798.1_Silent_p.I122I	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	181					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CCAAGCCCTTGATAGGAGTGC	0.612000													4	60					0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418855	135418855	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:135418855C>T	ENST00000338588.3	-	3	655	c.390G>A	c.(388-390)ctG>ctA	p.L130L	FAM180A_ENST00000415751.1_Silent_p.L130L	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	130						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGTGTAGGCCAGGGTCAGCA	0.612000													7	52					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42798663	42798663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42798663C>T	ENST00000310232.6	-	3	348	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	89										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCACCGTTTCCCTGAGCTCA	0.473000													6	112					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273212	162273212	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162273212C>T	ENST00000389554.3	+	1	608	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTCACAGTTTCGATGGCTCTG	0.577000													14	162					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678838	50678838	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50678838G>A	ENST00000355832.5	-	18	3246	c.3168C>T	c.(3166-3168)ttC>ttT	p.F1056F	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.F426F	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1056					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TAGAAGCAGGGAACTTCTTGC	0.418000								Direct reversal of damage;Nucleotide excision repair (NER)					6	75					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50338359	50338359	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50338359C>T	ENST00000312865.6	+	14	1652	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	MED25_ENST00000538643.1_Silent_p.F320F	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	533	Interaction with CREBBP.|Interaction with VP16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGAGCGGCTTCGTCAACGGCA	0.602000													5	147					0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9799447	9799447	+	Silent	SNP	C	C	T	rs141116659		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9799447C>T	ENST00000256460.3	-	11	1173	c.996G>A	c.(994-996)gcG>gcA	p.A332A	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	332					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CCCCATGGCTCGCCGTCTGCC	0.652000													4	41					0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	44877835	44877835	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44877835C>T	ENST00000355387.2	+	2	516	c.66C>T	c.(64-66)tcC>tcT	p.S22S	RNF220_ENST00000361799.2_Silent_p.S22S|RNF220_ENST00000372247.2_Silent_p.S22S			Q5VTB9	RN220_HUMAN	ring finger protein 220	22					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTCTGGCATCCCCAGCACTGA	0.572000													15	77					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148876611	148876611	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148876611C>T	ENST00000420008.2	+	6	1922	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	ZNF398_ENST00000426851.2_Silent_p.I378I|ZNF398_ENST00000540950.1_Silent_p.I554I|ZNF398_ENST00000335901.4_Silent_p.I378I|ZNF398_ENST00000475153.1_Silent_p.I549I|ZNF398_ENST00000483892.1_Silent_p.I378I|ZNF398_ENST00000491174.1_Silent_p.I378I	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	549					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGAGCTTCATCCGCAAGCACC	0.602000													6	59					0	0	1	0	0
USP22	23326	broad.mit.edu	37	17	20907598	20907598	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:20907598G>A	ENST00000261497.4	-	12	1655	c.1452C>T	c.(1450-1452)atC>atT	p.I484I	USP22_ENST00000537526.2_Silent_p.I472I|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	484					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TGTGCTGCCGGATAAAGCTGG	0.562000													5	45					0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452309	76452309	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76452309A>G	ENST00000311638.3	+	5	622	c.554A>G	c.(553-555)aAg>aGg	p.K185R	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.K143R|THAP6_ENST00000514480.1_Missense_Mutation_p.K185R	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	185						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTGAGGAAGACAATCAGG	0.403000													6	28					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526556	173526556	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173526556T>C	ENST00000367714.3	-	10	1560	c.1138A>G	c.(1138-1140)Att>Gtt	p.I380V	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I278V|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	380					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ACTCCTTTAATTCCAGACCAC	0.378000													7	121					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42195097	42195097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42195097C>T	ENST00000341458.4	+	1	361	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	SGK2_ENST00000426287.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	48					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)			ATGCCTGCTCCTCCCTGTCCC	0.617000													7	82					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424606	110424606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110424606G>A	ENST00000378402.5	+	20	2302	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	733					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)			CCAAACAGACGACCATATGGA	0.368000										HNSCC(38;0.096)			3	13					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49168416	49168416	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49168416G>A	ENST00000418109.1	-	8	1046	c.882C>T	c.(880-882)ccC>ccT	p.P294P	LAMB2_ENST00000305544.4_Silent_p.P294P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	294	Laminin EGF-like 1.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.P294P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTGGGGCGGGTGCACACT	0.612000													4	79					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461929	4461929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4461929G>A	ENST00000301395.3	-	3	826	c.767C>T	c.(766-768)tCg>tTg	p.S256L	GGT6_ENST00000574154.1_Missense_Mutation_p.S288L|GGT6_ENST00000573591.1_Missense_Mutation_p.S140L|GGT6_ENST00000381550.3_Missense_Mutation_p.S294L	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	288					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGGCACAGCCGAGGGCACCTC	0.657000													4	25					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124657	65124657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65124657G>A	ENST00000309880.5	+	2	1585	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	460					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAAATTCTACGACTGTGAGGA	0.572000													7	32					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:114141243C>T	ENST00000371950.3	+	6	1271	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	HTR2C_ENST00000371951.1_Silent_p.F214F|HTR2C_ENST00000276198.1_Silent_p.F214F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000													15	44					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993309	38993309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38993309C>T	ENST00000355481.4	+	48	7908	c.7777C>T	c.(7777-7779)Cgt>Tgt	p.R2593C	RYR1_ENST00000359596.3_Missense_Mutation_p.R2593C|RYR1_ENST00000360985.3_Missense_Mutation_p.R2593C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2593	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCTCGGGGTCGTTCGCTCAC	0.652000													7	36					0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127702981	127702981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127702981C>T	ENST00000405109.1	+	6	2199	c.1732C>T	c.(1732-1734)Cca>Tca	p.P578S	KBTBD12_ENST00000405256.1_Missense_Mutation_p.P578S|KBTBD12_ENST00000407609.3_Missense_Mutation_p.P185S|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Missense_Mutation_p.P153S			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	578										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GGAACTGGACCCATGGGAAAA	0.458000													7	90					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489539	42489539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489539G>A	ENST00000545399.1	-	7	835	c.682C>T	c.(682-684)Cag>Tag	p.Q228*	ATP1A3_ENST00000302102.5_Nonsense_Mutation_p.Q215*|ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.Q185*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.Q226*	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	215					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAGCGAGTCTGGGGCTCGGAT	0.587000													6	66					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11222211	11222211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11222211C>T	ENST00000558518.1	+	8	1269	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	LDLR_ENST00000545707.1_Missense_Mutation_p.P234L|LDLR_ENST00000455727.2_Missense_Mutation_p.P193L|LDLR_ENST00000535915.1_Missense_Mutation_p.P320L|LDLR_ENST00000558013.1_Missense_Mutation_p.P361L|LDLR_ENST00000557933.1_Missense_Mutation_p.P361L	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	361	EGF-like 2; calcium-binding (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGTCAGGATCCCGACACCTGC	0.597000													60	246					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32598135	32598135	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32598135C>T	ENST00000286827.3	-	8	2187	c.1716G>A	c.(1714-1716)caG>caA	p.Q572Q	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.Q572Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	572					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGTCAATCTTCTGTTCCAGTT	0.463000													5	98					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925719	27925719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27925719G>A	ENST00000244623.1	+	1	701	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGAAGGTCGACAAAAAGCA	0.453000													6	31					0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30457361	30457361	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:30457361C>T	ENST00000395323.3	+	2	325	c.117C>T	c.(115-117)ggC>ggT	p.G39G	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000407930.2_Silent_p.G22G|LBH_ENST00000406087.1_Silent_p.G39G|LBH_ENST00000401506.1_Silent_p.G45G|LBH_ENST00000404397.1_Silent_p.G39G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	39					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GCAAGGATGGCCTTTCCTACC	0.567000													13	43					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848395	215848395	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:215848395G>A	ENST00000366943.2	-	63	13244	c.12858C>T	c.(12856-12858)atC>atT	p.I4286I	USH2A_ENST00000307340.3_Silent_p.I4286I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4286	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.I4286I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTCTGGTGGGATCCAGGAAA	0.428000										HNSCC(13;0.011)			4	9					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332265	107332265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:107332265G>A	ENST00000335040.1	+	1	817	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCAGGTAATGAAGACATCAT	0.453000													4	37					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102213	22102213	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22102213G>A	ENST00000542433.1	-	1	883	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAAGGTAGATGAAAATACAGG	0.547000													4	40					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42002918	42002918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42002918C>T	ENST00000219905.7	+	8	2636	c.2455C>T	c.(2455-2457)Cgt>Tgt	p.R819C	MGA_ENST00000570161.1_Missense_Mutation_p.R819C|MGA_ENST00000545763.1_Missense_Mutation_p.R819C|MGA_ENST00000389936.4_Missense_Mutation_p.R819C|MGA_ENST00000566586.1_Missense_Mutation_p.R819C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	819						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACTGAAAAATCGTTCTGCTTT	0.343000													4	20					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651448	8651448	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8651448G>A	ENST00000270328.4	-	19	2663	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	ADAMTS10_ENST00000595838.1_Silent_p.I286I|ADAMTS10_ENST00000597188.1_Silent_p.I799I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	799	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TTACCATGACGATGAGAGATG	0.597000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	85					0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32490978	32490978	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32490978C>T	ENST00000334983.5	+	3	602	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CMTM7_ENST00000349718.4_Intron	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	122	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						GTACCCTGCTCCTCCTCATCG	0.532000													7	99					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234072438	234072438	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234072438C>T	ENST00000359570.5	+	14	1290	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	INPP5D_ENST00000450745.1_Silent_p.I194I|INPP5D_ENST00000538935.1_Silent_p.I429I|INPP5D_ENST00000455936.2_Silent_p.I194I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	442					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGACTACATCCCCCATGACA	0.557000													40	113					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509081	71509081	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71509081G>T	ENST00000396073.3	+	9	2219	c.1938G>T	c.(1936-1938)aaG>aaT	p.K646N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	646					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAGACCAGAAGGAGATAGTCC	0.443000													4	54					0.014758	0.0148893	1	1	0
SLC2A7	155184	broad.mit.edu	37	1	9063437	9063437	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9063437C>T	ENST00000400906.1	-	12	1460	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	487						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGAAGCTTCACCCTGTTTC	0.498000													5	99					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982297	57982297	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57982297C>T	ENST00000309433.6	+	1	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AATTCATTCTCCTGGGATTTT	0.418000													4	26					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097741	85097741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85097741G>A	ENST00000335459.5	-	2	482	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	TRABD2A_ENST00000409520.2_Missense_Mutation_p.P93S|TRABD2A_ENST00000409133.1_Missense_Mutation_p.P93S	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		ATGGTATAGGGGTCTGTGAGA	0.557000													3	15					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584584	42584584	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42584584G>T	ENST00000600245.1	+	2	2481	c.1826G>T	c.(1825-1827)tGt>tTt	p.C609F	ZNF574_ENST00000359044.4_Missense_Mutation_p.C609F|ZNF574_ENST00000222339.7_Missense_Mutation_p.C699F			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCTACAAGTGTCGCGAGTGC	0.647000													10	47					4.68919e-08	4.76322e-08	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115531816	115531816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115531816C>T	ENST00000361048.1	+	8	967	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.H208Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.H28Y|PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H126Y	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		GGAAGAGAATCATTATCTTAC	0.373000													4	31					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302301	86302301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:86302301G>A	ENST00000263857.6	-	12	1841	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	POLR1A_ENST00000409681.1_Missense_Mutation_p.P488L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	488					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGCACATTAGGGCCGTTGAT	0.572000													3	20					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109698506	109698506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109698506G>A	ENST00000465301.2	+	4	4370	c.4124G>A	c.(4123-4125)gGa>gAa	p.G1375E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1375E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1375										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCACCTTGGACAGAGCACA	0.488000													15	42					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047350	56047350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:56047350C>T	ENST00000244728.5	-	2	464	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	COL21A1_ENST00000370819.1_Missense_Mutation_p.E23K|COL21A1_ENST00000535941.1_Missense_Mutation_p.E23K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	23					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCCCATCTTCAGCTAACACA	0.348000													3	12					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082318	12082318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12082318C>T	ENST00000235332.4	+	3	450	c.281C>T	c.(280-282)tCt>tTt	p.S94F	MIIP_ENST00000436478.2_Missense_Mutation_p.S94F|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	94										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGGGTGGCCTCTCTCCCACCT	0.692000													5	86					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031351	21031351	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21031351G>A	ENST00000247986.2	-	5	1022	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	KIF17_ENST00000400463.3_Silent_p.L238L|KIF17_ENST00000375044.1_Silent_p.L138L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	238	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGGTCCACCAGGTTCAGCTTG	0.677000													8	65					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98375486	98375486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98375486G>A	ENST00000186436.5	-	40	5465	c.5237C>T	c.(5236-5238)tCg>tTg	p.S1746L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1746	Ser-rich.					integral to membrane		p.S1633L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGATTGCACGATCGAGATAA	0.483000													10	81					0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442594	22442594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22442594C>T	ENST00000265810.4	+	4	495	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDLIM2_ENST00000308354.7_Missense_Mutation_p.S377F|PDLIM2_ENST00000339162.7_Missense_Mutation_p.S127F|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S127F|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S127F|PDLIM2_ENST00000397760.4_Missense_Mutation_p.S127F|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S127F	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	127	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCCCAACCTCCCTCAGCCCG	0.622000													6	95					0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915315	119915315	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:119915315G>A	ENST00000272520.3	-	1	1150	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	177	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCACGTCATCGAACTTCAGCA	0.577000										HNSCC(49;0.14)			8	20					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027702	37027702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:37027702C>T	ENST00000358047.3	+	1	1271	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	407										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCGGAGCCTCCCAAGACTCG	0.607000													9	26					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241827960	241827960	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241827960T>A	ENST00000307486.8	-	4	651	c.553A>T	c.(553-555)Acg>Tcg	p.T185S	C2orf54_ENST00000388934.4_Missense_Mutation_p.T334S|C2orf54_ENST00000402775.2_Missense_Mutation_p.T166S			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	334										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCTTCCGCGTGGCCAGGCAA	0.692000													3	19					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371842	103371842	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103371842C>T	ENST00000560371.1	+	11	1645	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	TRAF3_ENST00000539721.1_Silent_p.V393V|TRAF3_ENST00000392745.2_Silent_p.V476V|TRAF3_ENST00000347662.4_Silent_p.V451V|TRAF3_ENST00000351691.5_Silent_p.V451V	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	476	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TGTTTTTTGTCATCATGCGTG	0.517000													11	111					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14814329	14814329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14814329C>T	ENST00000253697.3	+	17	3114	c.2662C>T	c.(2662-2664)Ctc>Ttc	p.L888F	C3orf20_ENST00000435614.1_Missense_Mutation_p.L766F|C3orf20_ENST00000412910.1_Missense_Mutation_p.L766F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	888						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTACATCCTCTCAGCAGGGA	0.602000													5	41					0	0	1	0	0
PROK2	60675	broad.mit.edu	37	3	71821909	71821909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:71821909G>A	ENST00000353065.3	-	3	446	c.293C>T	c.(292-294)tCa>tTa	p.S98L	PROK2_ENST00000295619.3_Missense_Mutation_p.S119L	NM_021935.3	NP_068754.1	Q9HC23	PROK2_HUMAN	prokineticin 2	119					activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis	extracellular region	G-protein-coupled receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		TCGGTTAAATGAAGTCCGTAA	0.413000													6	46					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092552	101092552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101092552G>A	ENST00000537026.1	-	15	1353	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	NXF5_ENST00000361708.2_Nonsense_Mutation_p.Q332*|NXF5_ENST00000473265.2_Nonsense_Mutation_p.Q332*	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	332	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.Q332E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGTCATGCTGAGTTTCAGGC	0.542000													7	47					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33397598	33397598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33397598C>T	ENST00000242067.6	+	16	2205	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	BBS9_ENST00000354265.4_Missense_Mutation_p.L527F|BBS9_ENST00000396127.2_Missense_Mutation_p.L527F|BBS9_ENST00000355070.2_Missense_Mutation_p.L557F|BBS9_ENST00000350941.3_Missense_Mutation_p.L522F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	562					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCTTCTTAGTCTCTTCCCAGG	0.383000									Bardet-Biedl syndrome				4	11					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153425	133153425	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133153425G>A	ENST00000388996.4	-	10	1836	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	KCNQ3_ENST00000521134.1_Silent_p.F352F|KCNQ3_ENST00000519445.1_Silent_p.F472F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	472					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGGCCGTGCGGAAACGCTCTT	0.453000													12	105					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102762545	102762545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102762545C>T	ENST00000370220.1	+	1	3313	c.250C>T	c.(250-252)Cct>Tct	p.P84S	LZTS2_ENST00000370223.3_Missense_Mutation_p.P84S			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	84	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAAGGCTGTCCCTGTCACCAG	0.627000													6	24					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515325	26515325	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26515325C>T	ENST00000531191.1	+	19	1986	c.979C>T	c.(979-981)Cta>Tta	p.L327L	CNKSR1_ENST00000374253.5_Silent_p.L592L|CNKSR1_ENST00000361530.6_Silent_p.L585L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	592	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGTCCCTCCTAGGCCAGCC	0.642000													26	81					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119348287	119348287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119348287C>T	ENST00000273371.4	+	11	1415	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F	PLA1A_ENST00000488919.1_Missense_Mutation_p.S275F|PLA1A_ENST00000495992.1_Missense_Mutation_p.S432F|PLA1A_ENST00000494440.1_Missense_Mutation_p.S432F	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	448	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGACTGTTTCCTGTGACCTG	0.453000													10	59					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754563	141754563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141754563C>T	ENST00000475668.2	+	27	3223	c.3169C>T	c.(3169-3171)Ccc>Tcc	p.P1057S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1057S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1057					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTTATGATCCCAACAAGAA	0.418000													4	45					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731807	140731807	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140731807C>T	ENST00000523390.1	+	1	1980	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTAATCTTCGCGGATAGCC	0.657000													6	76					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31503134	31503134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31503134G>A	ENST00000453105.2	-	5	790	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F	DDX39B_ENST00000417556.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000396172.1_Intron|DDX39B_ENST00000376177.2_Intron|DDX39B_ENST00000458640.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						gaaggtagaagggTATTTACA	0.562000													4	57					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56179743	56179743	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56179743G>A	ENST00000340462.4	-	7	1387	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	ZBP1_ENST00000371173.3_Silent_p.L392L|ZBP1_ENST00000395822.3_Silent_p.L317L			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	392						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCTTGGGGGTGAGCTTCGAGT	0.552000													7	116					0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094725	30094725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30094725C>T	ENST00000279387.7	+	6	482	c.314C>T	c.(313-315)cCt>cTt	p.P105L	PPP4C_ENST00000561610.1_Missense_Mutation_p.P105L	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	105					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GTTCGCTATCCTGATCGCATC	0.622000													6	94					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134366291	134366291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134366291C>T	ENST00000508956.1	-	2	242	c.185G>A	c.(184-186)gGa>gAa	p.G62E	KY_ENST00000423778.2_Missense_Mutation_p.G62E|KY_ENST00000503669.1_Missense_Mutation_p.G62E			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	62						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AAAGTCATTTCCTTCTAATTT	0.378000													3	19					0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21181905C>T	ENST00000233047.4	+	3	712	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L	TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Silent_p.L82L|TMEM159_ENST00000261388.3_Silent_p.L82L|TMEM159_ENST00000451578.2_Silent_p.L106L|TMEM159_ENST00000572599.1_Silent_p.L82L			Q96B96	TM159_HUMAN	transmembrane protein 159	82						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458000													6	80					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													8	144					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98893493	98893493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:98893493G>A	ENST00000295268.3	-	7	960	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		AAAGTCCGAGGAACAGAAGAA	0.358000													4	41					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:141607771G>A	ENST00000389484.3	-	29	5810	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)			6	24					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21967627	21967627	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21967627C>T	ENST00000261200.4	-	33	4052	c.4053G>A	c.(4051-4053)ggG>ggA	p.G1351G	ABCC9_ENST00000261201.4_Silent_p.G1351G|ABCC9_ENST00000345162.2_Silent_p.G1315G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1351	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACGATGATTTCCCACTGCCAG	0.398000													3	10					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867671	2867671	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2867671G>A	ENST00000545496.1	-	7	894	c.603C>T	c.(601-603)tcC>tcT	p.S201S	ARSE_ENST00000540563.1_Silent_p.S131S|ARSE_ENST00000381134.3_Silent_p.S176S			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	176					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCCATCAAGGAGAAAGGCA	0.517000													5	14					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621189	8621189	+	Missense_Mutation	SNP	G	G	A	rs151079768	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8621189G>A	ENST00000429646.2	+	9	3421	c.628G>A	c.(628-630)Gac>Aac	p.D210N	CPZ_ENST00000382480.2_Missense_Mutation_p.D465N|CPZ_ENST00000315782.6_Missense_Mutation_p.D591N|CPZ_ENST00000360986.4_Missense_Mutation_p.D602N			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	602					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCCCCACGACCCACTGGG	0.677000													8	49					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53950484	53950484	+	RNA	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53950484A>G	ENST00000454407.1	+	0	416							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CGTGAGGAAGAAACCCGGAAG	0.433000													4	41					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6982579	6982579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6982579G>A	ENST00000389658.3	-	41	5900	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1936	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAAACAAGGGATTCTGAGAG	0.552000													10	104					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994842	140994842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994842G>A	ENST00000285879.4	+	4	1938	c.1652G>A	c.(1651-1653)aGc>aAc	p.S551N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	551							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTCAGAGCCCTCCTCAG	0.562000										HNSCC(15;0.026)			44	99					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311534	48311534	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48311534C>T	ENST00000435803.1	+	17	2295	c.2271C>T	c.(2269-2271)ttC>ttT	p.F757F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	757					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCCAGTTTCCACAGCCTCC	0.373000													6	10					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005341	74005341	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74005341C>T	ENST00000301607.3	-	22	4198	c.3945G>A	c.(3943-3945)aaG>aaA	p.K1315K	EVPL_ENST00000586740.1_Silent_p.K1337K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1315	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCACCACCTCCTTGCTCACCG	0.706000													17	222					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585248	1585248	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1585248C>T	ENST00000381297.4	-	2	414	c.204G>A	c.(202-204)acG>acA	p.T68T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	68						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCATCAGGTCCGTGACGCTCA	0.602000			T	CRLF2	"""B-ALL, Downs associated ALL"""								5	73					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512546	68512546	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:68512546G>A	ENST00000370981.1	-	4	1071	c.435C>T	c.(433-435)ttC>ttT	p.F145F	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.F145F			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	145					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACGATGGGGAACTTATGCA	0.527000													36	113					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188166	6188166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6188166C>T	ENST00000262450.3	-	25	3942	c.3843G>A	c.(3841-3843)atG>atA	p.M1281I	CHD5_ENST00000378021.1_Missense_Mutation_p.M138I	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1281					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTACTCGTTCATGTTCTGTA	0.627000													4	41					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258227	25258227	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:25258227G>A	ENST00000328086.7	-	5	2093	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	430					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ACGGAGCACGGGCTGCAGGGT	0.498000													5	47					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811354	84811354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:84811354G>A	ENST00000389394.3	+	15	2598	c.2461G>A	c.(2461-2463)Gaa>Aaa	p.E821K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E821K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E821K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	821	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CGAAGTGAATGAAGTAAAACT	0.299000													5	40					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39033710	39033710	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39033710C>T	ENST00000295373.6	-	22	3933	c.3807G>A	c.(3805-3807)gtG>gtA	p.V1269V		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1269							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGATAGTTCACTGATGAAG	0.423000													35	78					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129247649	129247649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129247649G>A	ENST00000296271.3	+	1	167	c.73G>A	c.(73-75)Gag>Aag	p.E25K		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	25					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAGCCCCTTCGAGTACCCACA	0.587000													12	75					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174684	51174684	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51174684C>T	ENST00000440970.1	-	2	1589	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.G483G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	483					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGAACCTGTTCCCGCAGATGT	0.522000													13	81					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42273443	42273443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42273443G>A	ENST00000389384.4	-	6	790	c.482C>T	c.(481-483)cCc>cTc	p.P161L	ATXN7L3_ENST00000454077.2_Missense_Mutation_p.P168L|ATXN7L3_ENST00000593073.1_Intron	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	161					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGGGGAATTGGGGTTCTGGAA	0.483000													9	93					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022636	18022636	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:18022636C>T	ENST00000205890.5	+	2	860	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	174	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AACTCCCCTTCCCGTCGGGTG	0.711000													9	38					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55464783	55464783	+	Translation_Start_Site	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55464783C>A	ENST00000371265.4	+	0	178					NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)							basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGTGTAAGCCTGTCTCGGT	0.597000													7	41					1.06961e-07	1.08634e-07	1	1	0
TLR5	7100	broad.mit.edu	37	1	223285804	223285804	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223285804G>A	ENST00000540964.1	-	4	1031	c.570C>T	c.(568-570)ctC>ctT	p.L190L	TLR5_ENST00000342210.6_Silent_p.L190L			O60602	TLR5_HUMAN	toll-like receptor 5	190					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)		GTAGGGGCTCGAGCTCATGTT	0.423000													4	37					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926164	1926164	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1926164C>T	ENST00000399161.2	-	10	2124	c.1377G>A	c.(1375-1377)agG>agA	p.R459R	MYT1L_ENST00000428368.2_Silent_p.R459R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	459					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCATATTGTCCCTCCTCCCAG	0.522000													8	114					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549404	33549404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33549404G>A	ENST00000504830.1	-	21	4545	c.4210C>T	c.(4210-4212)Cac>Tac	p.H1404Y	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.H1319Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1404	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AACTGGCAGTGAAATGGCCTC	0.597000										HNSCC(64;0.19)			7	80					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780812	88780812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:88780812C>T	ENST00000418177.2	-	2	596	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	GRM5_ENST00000305432.5_Missense_Mutation_p.E77K|GRM5_ENST00000393294.3_Missense_Mutation_p.E77K|GRM5_ENST00000455756.2_Missense_Mutation_p.E77K|GRM5_ENST00000305447.4_Missense_Mutation_p.E77K|GRM5_ENST00000393297.1_Missense_Mutation_p.E77K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	77					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTGATCCTTTCCAGGGTATGC	0.542000													3	9					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424185	2424185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2424185C>T	ENST00000333256.6	+	3	765	c.322C>T	c.(322-324)Cca>Tca	p.P108S	TSSC4_ENST00000380996.5_Missense_Mutation_p.P44S|TSSC4_ENST00000451491.2_Missense_Mutation_p.P108S|TSSC4_ENST00000380992.1_Missense_Mutation_p.P44S			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	108										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGACGGGCTCCATCCTCTGT	0.657000													67	385					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14746042	14746042	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14746042C>T	ENST00000253697.3	+	7	1529	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.F237F|C3orf20_ENST00000412910.1_Silent_p.F237F	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	359						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATCATTTCAGTCAGCATT	0.498000													18	179					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7075675	7075675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7075675C>T	ENST00000414706.1	+	4	514	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ZNF557_ENST00000439035.2_Intron|ZNF557_ENST00000252840.6_Missense_Mutation_p.S14F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCTCTGTCTTCCCTGTTCCCA	0.552000													12	42					0	0	1	0	0
TRAV6	6956	broad.mit.edu	37	14	22236791	22236791	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22236791G>A	ENST00000390428.3	+	0	63																											TTGGGGAGACGAATGGAGTCA	0.478000													9	79					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133132	126133132	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126133132C>T	ENST00000373631.3	+	7	1801	c.1800C>T	c.(1798-1800)ctC>ctT	p.L600L	CRB2_ENST00000373629.2_Silent_p.L268L|CRB2_ENST00000359999.3_Silent_p.L600L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	600	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGAACGTCCTCCTGGGCTGTG	0.657000													8	32					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27134227	27134227	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27134227G>A	ENST00000343060.4	-	2	901	c.840C>T	c.(838-840)cgC>cgT	p.R280R	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	280						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTCATTCGGCGGTTCTGGA	0.572000													21	62					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31725315	31725315	+	Missense_Mutation	SNP	C	C	T	rs140782910		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:31725315C>T	ENST00000396556.2	-	8	1659	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E449K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	513					lipid transport		lipid binding	p.E513K(2)|p.E513*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATTGGGTGTTCGTGACAGCTG	0.542000													10	74					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378081	48378081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48378081C>T	ENST00000222002.3	-	5	717	c.578G>A	c.(577-579)aGa>aAa	p.R193K		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	193					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CTCTATGGTTCTTCCTGTGTC	0.443000													10	29					0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26091134	26091134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26091134G>A	ENST00000357618.5	+	2	264	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	HFE_ENST00000336625.8_Missense_Mutation_p.E48K|HFE_ENST00000461397.1_Missense_Mutation_p.E48K|HFE_ENST00000397022.3_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.E48K|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.E48K|HFE_ENST00000470149.1_Missense_Mutation_p.E48K	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	48	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTGTTTGAAGCTTTGGG	0.512000									Hemochromatosis				5	95					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016166	27016166	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:27016166G>A	ENST00000318627.2	+	1	539	c.93G>A	c.(91-93)ggG>ggA	p.G31G		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	31						extracellular region|Golgi apparatus		p.G31G(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGTCCAATGGGACTCTGCACC	0.542000													7	41					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657673	144657673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144657673G>A	ENST00000449291.2	-	10	1505	c.1211C>T	c.(1210-1212)cCa>cTa	p.P404L	NAPRT1_ENST00000435154.3_Missense_Mutation_p.P404L|NAPRT1_ENST00000276844.7_Missense_Mutation_p.P404L|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Missense_Mutation_p.P404L			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	404					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCATTCGTGGCTGGCCCCC	0.677000													6	36					0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74075362	74075362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74075362C>T	ENST00000334586.5	+	1	100	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ZACN_ENST00000392503.2_Missense_Mutation_p.S6F	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	6					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCCTATGGTCCCTGCTCCAT	0.582000													4	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281415	152281415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152281415C>T	ENST00000368799.1	-	3	5982	c.5947G>A	c.(5947-5949)Gag>Aag	p.E1983K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1983	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGACTCTGTGTGACGA	0.572000									Ichthyosis				26	488					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588539	39588539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39588539G>A	ENST00000352251.3	-	11	1683	c.850C>T	c.(850-852)Cct>Tct	p.P284S	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.P262S	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	284	Pro-rich.																GATGCAGTAGGAACAGGAGTT	0.478000													6	28					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687390	8687390	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8687390C>T	ENST00000299663.3	-	6	669	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CLEC4E_ENST00000446457.2_3'UTR|CLEC4E_ENST00000545274.1_Silent_p.G123G	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	168	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTTGGGCTCCCCTACATCCC	0.403000													7	56					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409665	4409665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4409665C>T	ENST00000301280.5	+	3	970	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	290	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCTCTCCCTCTTCCACC	0.617000								Chromatin Structure					12	44					0	0	1	0	0
GATSL3	652968	broad.mit.edu	37	22	30683449	30683449	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30683449G>A	ENST00000407689.3	-	3	414	c.285C>T	c.(283-285)acC>acT	p.T95T	RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.T95T	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						GGGCGATCTTGGTGACCCCAG	0.612000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	64					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25488769	25488769	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25488769G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						TTGGGTCGATGATGAGAACCT	0.517000													17	216					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18194861	18194861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18194861G>A	ENST00000314254.3	+	1	478	c.58G>A	c.(58-60)Gag>Aag	p.E20K	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	20						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CGGACGTGAGGAGACTCCTTG	0.547000													15	95					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757513	242757513	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242757513C>T	ENST00000391969.2	+	5	1305	c.594C>T	c.(592-594)ttC>ttT	p.F198F	NEU4_ENST00000407683.1_Silent_p.F198F|NEU4_ENST00000405370.1_Silent_p.F198F|NEU4_ENST00000404257.1_Silent_p.F210F|NEU4_ENST00000325935.6_Silent_p.F211F	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	198						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCACTCCTTCGCCTTCTACA	0.687000													4	23					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52255442	52255442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52255442C>T	ENST00000597542.1	-	9	3919	c.2962G>A	c.(2962-2964)Gac>Aac	p.D988N	TLR9_ENST00000494383.1_Missense_Mutation_p.G1117E|TLR9_ENST00000360658.2_Missense_Mutation_p.D964N			Q9NR96	TLR9_HUMAN	toll-like receptor 9	964	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACCACGACGTCCTTGCGGTCC	0.701000													6	49					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437823	43437823	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43437823A>T	ENST00000282041.5	-	42	7471	c.7437T>A	c.(7435-7437)tcT>tcA	p.S2479S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2479					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTACCTGTTAGACAAAGGCG	0.493000													6	46					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572567	101572567	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:101572567C>T	ENST00000310954.6	-	13	2456	c.2170G>A	c.(2170-2172)Ggg>Agg	p.G724R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	724					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCATTTCACCCTTCTTTTACT	0.373000													3	5					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355349	56355349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56355349G>A	ENST00000340482.3	-	6	1315	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	MPO_ENST00000225275.3_Missense_Mutation_p.P348L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	348					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCTGGCCAGGGGCTCCTCGCT	0.647000													4	43					0	0	1	0	0
MRPL55	128308	broad.mit.edu	37	1	228295508	228295508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228295508G>A	ENST00000366731.5	-	5	990	c.197C>T	c.(196-198)tCc>tTc	p.S66F	MRPL55_ENST00000430433.1_Missense_Mutation_p.S66F|MRPL55_ENST00000391867.3_Missense_Mutation_p.S30F|MRPL55_ENST00000366744.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366733.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366735.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366738.1_Missense_Mutation_p.S66F|MRPL55_ENST00000366742.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366746.3_Missense_Mutation_p.S30F|MRPL55_ENST00000366736.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366740.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366741.1_Missense_Mutation_p.S30F|MRPL55_ENST00000411464.2_Missense_Mutation_p.S30F|MRPL55_ENST00000366747.3_Missense_Mutation_p.S30F|MRPL55_ENST00000336520.3_Missense_Mutation_p.S30F|MRPL55_ENST00000348259.5_Missense_Mutation_p.S30F|MRPL55_ENST00000366739.1_Missense_Mutation_p.S30F|MRPL55_ENST00000366732.1_Missense_Mutation_p.S27F|MRPL55_ENST00000366734.1_Missense_Mutation_p.S30F|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000336300.5_Missense_Mutation_p.S30F|MRPL55_ENST00000295008.4_Missense_Mutation_p.S30F			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	30					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				AGCTCGCCAGGAGGATGTGTG	0.632000													4	64					0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053512	157053512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:157053512G>A	ENST00000265007.6	-	5	2439	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Missense_Mutation_p.H395Y	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	700					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTGGCTATGACTGTTATAG	0.423000													4	21					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768660	24768660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24768660C>T	ENST00000003912.3	+	5	747	c.32C>T	c.(31-33)tCc>tTc	p.S11F	NIPAL3_ENST00000428131.1_Missense_Mutation_p.S93F|NIPAL3_ENST00000374399.4_Missense_Mutation_p.S93F|NIPAL3_ENST00000358028.4_Missense_Mutation_p.S93F|NIPAL3_ENST00000339255.2_Missense_Mutation_p.S93F			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	93						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GTGTTCGCCTCCTACGCCTTC	0.637000													23	111					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990462	39990462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:39990462C>T	ENST00000332312.3	-	4	1939	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	583						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGAGTGATCTCGCCTTGAAGT	0.592000													14	109					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711484	162711484	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162711484T>G	ENST00000375514.5	+	6	741	c.454T>G	c.(454-456)Ttg>Gtg	p.L152V	SLC4A10_ENST00000446997.1_Missense_Mutation_p.L141V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L141V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.L141V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L141V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L141V|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	141					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTATAGGTGGTTGAAGTTTGA	0.328000													4	11					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699256	140699256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140699256C>T	ENST00000313368.5	-	1	1074	c.356G>A	c.(355-357)aGc>aAc	p.S119N		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	119					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTTTCTTGCTTGCTTTAGG	0.438000													5	81					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032080	46032080	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46032080C>T	ENST00000334662.2	+	1	85	c.63C>T	c.(61-63)tcC>tcT	p.S21S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	21						keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGTCTGCTCCAGTGACGTGG	0.622000													28	90					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654184	46654184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46654184C>T	ENST00000253255.5	-	1	5035	c.5036G>A	c.(5035-5037)cGa>cAa	p.R1679Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1679					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GCCTCGGATTCGGACGATCTG	0.423000													8	59					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798169	21798169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21798169C>T	ENST00000318220.6	+	8	1434	c.386C>T	c.(385-387)gCc>gTc	p.A129V	NBPF3_ENST00000342104.5_Missense_Mutation_p.A185V|NBPF3_ENST00000318249.5_Missense_Mutation_p.A185V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A115V			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	185						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CATCTCCAGGCCCTCCTCACT	0.577000													6	127					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135123753	135123753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135123753C>T	ENST00000359035.3	+	4	518	c.515C>T	c.(514-516)cCc>cTc	p.P172L	ZNF511_ENST00000361518.5_Missense_Mutation_p.P172L|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.P107L			Q8NB15	ZN511_HUMAN	zinc finger protein 511	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CACCTGTACCCCGCGGACTTC	0.507000													16	73					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100359971	100359971	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100359971G>A	ENST00000542585.1	+	0	4124				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGACCAGGACGAGGACCAGGA	0.542000													4	31					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14690314	14690314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:14690314C>T	ENST00000284274.4	+	6	839	c.761C>T	c.(760-762)cCa>cTa	p.P254L		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	254										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGGAAGTACCATTTTTCTCT	0.428000													6	37					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176851	43176851	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43176851G>A	ENST00000352483.2	-	2	372	c.308C>T	c.(307-309)tCc>tTc	p.S103F	RIPK4_ENST00000332512.3_Missense_Mutation_p.S103F|RIPK4_ENST00000544709.1_Missense_Mutation_p.S40F|RIPK4_ENST00000542057.1_Missense_Mutation_p.S40F			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.S103F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTTCCAGGGAGCCCGTCTC	0.587000													4	44					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403500	136403500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136403500G>A	ENST00000393061.3	+	4	1022	c.590G>A	c.(589-591)aGg>aAg	p.R197K	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.R88K|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.R88K			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	88					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CCCGGGAACAGGACCTGCACG	0.667000													18	100					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300355	62300355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62300355G>A	ENST00000378024.4	-	5	1808	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	512					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGTTTAGGAGACCCAAGG	0.448000													5	114					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624181	154624181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154624181G>A	ENST00000260010.6	+	1	1530	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	41					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GGCAGCTCAGGATCTTTAAAC	0.502000													4	29					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812735	35812735	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35812735C>T	ENST00000216122.4	+	12	1672	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	MCM5_ENST00000382011.5_Silent_p.F463F	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	506	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACATTGACTTCATGCCCACCA	0.592000													11	89					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175867	25175867	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:25175867G>A	ENST00000409280.1	-	10	1805	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	C7orf31_ENST00000283905.3_Silent_p.F499F			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	499										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GTTCTAAAGTGAAAGCTTCCG	0.363000													26	75					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923954	6923954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6923954C>T	ENST00000011653.4	+	5	661	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Nonsense_Mutation_p.Q80*	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	135	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CCACCTGCTTCAGGGGCAGAG	0.572000													8	80					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160168518	160168518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160168518C>T	ENST00000368079.3	+	8	1137	c.862C>T	c.(862-864)Cct>Tct	p.P288S	CASQ1_ENST00000467691.1_Missense_Mutation_p.P15S|CASQ1_ENST00000368078.3_Missense_Mutation_p.P294S	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	294						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGCTGATCCTGGTGAGGG	0.537000													7	110					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432245	117432245	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117432245G>A	ENST00000160373.3	-	4	1096	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	335										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGAAACTAGGGGACTCCCTG	0.502000													9	136					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634992	172634992	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172634992A>T	ENST00000367721.2	+	4	866	c.682A>T	c.(682-684)Aag>Tag	p.K228*	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	228					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GATGGAGGGGAAGATGATGAG	0.512000													4	50					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111348965	111348965	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111348965G>A	ENST00000228841.8	-	7	464	c.417C>T	c.(415-417)ttC>ttT	p.F139F	MYL2_ENST00000548438.1_Silent_p.F125F	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	139	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GGAAGGCGGCGAACATCTGGT	0.617000													8	94					0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18977308	18977308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:18977308G>A	ENST00000339775.6	-	3	334	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	BTG3_ENST00000348354.6_Missense_Mutation_p.R61C	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	61					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTATTGACACGAATACATCTA	0.373000													7	13					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64875095	64875095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64875095G>A	ENST00000533854.1	+	3	439	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG5_ENST00000169565.3_Missense_Mutation_p.E68K|CACNG5_ENST00000307139.3_Missense_Mutation_p.E68K			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACAGGTGAGGAGCGGGGGCG	0.468000													9	81					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060089	74060089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74060089G>A	ENST00000307877.2	-	4	690	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	SRP68_ENST00000539137.1_Missense_Mutation_p.R139C|SRP68_ENST00000355113.5_Missense_Mutation_p.R76C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	177					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						GCATCCACGCGATTGCTCTCA	0.448000													7	102					0	0	1	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075129	226075129	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226075129T>A	ENST00000272134.5	-	3	786	c.707A>T	c.(706-708)gAg>gTg	p.E236V	RP4-559A3.7_ENST00000432920.2_Silent_p.G344G	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	236					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGTGTGCAGCTCCAGCTGGGG	0.612000													5	56					0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99377008	99377008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99377008G>A	ENST00000335628.3	-	2	312	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.L47F|MORN4_ENST00000478953.1_Missense_Mutation_p.L47F			Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	47										large_intestine(1)|lung(1)|stomach(2)	4						CCATTAAAGAGCCCATTCTCA	0.463000													6	179					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300083	15300083	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15300083C>T	ENST00000263388.2	-	7	1268		c.e7+1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTCCCCTCACCGATAGAGCA	0.642000													11	83					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50139938	50139938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50139938G>A	ENST00000371564.3	-	2	1061	c.842C>T	c.(841-843)tCt>tTt	p.S281F	NFATC2_ENST00000414705.1_Missense_Mutation_p.S261F|NFATC2_ENST00000396009.3_Missense_Mutation_p.S281F	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	281	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGCCACGTGAGATGAGGGCTG	0.716000													6	22					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336826	127336826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127336826C>T	ENST00000265056.7	+	12	2159	c.1915C>T	c.(1915-1917)Ccc>Tcc	p.P639S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	639	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GCGCTACGACCCCTCGCTGAC	0.597000													4	22					0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153077365	153077365	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:153077365G>A	ENST00000367244.3	+	5	604	c.432G>A	c.(430-432)aaG>aaA	p.K144K	VIP_ENST00000367243.3_Silent_p.K143K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	144					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TGGCTGTAAAGAAATATTTGA	0.383000													3	11					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839542	19839542	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19839542G>A	ENST00000405640.1	-	2	911	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C22orf29_ENST00000407472.1_Silent_p.P81P|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000328554.4_Silent_p.P81P|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	81										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCCCAGCTAGGGGACCCCTTT	0.632000													5	64					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38702323	38702323	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38702323G>A	ENST00000359357.3	+	3	287	c.33G>A	c.(31-33)ccG>ccA	p.P11P	DNAH8_ENST00000449981.2_Silent_p.P228P|DNAH8_ENST00000441566.1_Silent_p.P11P					dynein, axonemal, heavy chain 8									p.P11P(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCAGCCCCGGATAAACTAA	0.353000													5	36					0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42032201	42032201	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42032201A>G	ENST00000359308.4	+	3	935	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	XRCC6_ENST00000405878.1_Missense_Mutation_p.K94E|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405506.1_Missense_Mutation_p.K44E|XRCC6_ENST00000360079.3_Missense_Mutation_p.K94E|XRCC6_ENST00000402580.3_Intron			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	94					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CGAGAAAGACAAAAATTCAGT	0.333000								Non-homologous end-joining					7	41					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997355	85997355	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:85997355G>A	ENST00000372105.3	-	2	231	c.210C>T	c.(208-210)gcC>gcT	p.A70A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	70						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCCTGCGTATGGCCGTCCGCT	0.677000													6	81					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432234	152432234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152432234C>T	ENST00000397345.3	-	107	17190	c.16988G>A	c.(16987-16989)aGa>aAa	p.R5663K	NEB_ENST00000604864.1_Missense_Mutation_p.R5663K|NEB_ENST00000409198.1_Missense_Mutation_p.R3962K|NEB_ENST00000603639.1_Missense_Mutation_p.R5663K|NEB_ENST00000427231.2_Missense_Mutation_p.R5663K|NEB_ENST00000172853.10_Missense_Mutation_p.R3962K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5678					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCATTTGCTCTAGCGAGATT	0.388000													6	92					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137155	126137155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:126137155G>A	ENST00000299308.3	+	8	2076	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D202N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	690						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGCTGCCCTGGATGTTCTTCA	0.602000													5	39					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50497865	50497865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50497865C>T	ENST00000301149.3	+	1	264	c.32C>T	c.(31-33)tCc>tTc	p.S11F	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.S11F	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	11					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ATTGTAGGCTCCGGGAACTGG	0.597000													7	99					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564004	139564004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:139564004C>T	ENST00000358430.3	-	10	1946	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	572						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GAGGGAGGTTCAGCATCACTG	0.597000													6	61					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72921689	72921689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72921689G>A	ENST00000331427.4	+	3	444	c.352G>A	c.(352-354)Gat>Aat	p.D118N	OTOP2_ENST00000580223.1_Missense_Mutation_p.D118N	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	118						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CCTCATCATGGATGTCTTCAA	0.557000													6	125					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64468761	64468761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64468761C>T	ENST00000358025.3	+	29	3978	c.3748C>T	c.(3748-3750)Cat>Tat	p.H1250Y	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1250Y|SYNE2_ENST00000344113.4_Missense_Mutation_p.H1250Y	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1250					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCAGGGATTTCATCTCATTGA	0.413000													8	49					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957493	35957493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35957493C>T	ENST00000274278.3	-	5	1229	c.872G>A	c.(871-873)gGg>gAg	p.G291E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G291E|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G257E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	291						integral to membrane	glucuronosyltransferase activity	p.G291>?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGCATCCCCAAAGTTGGC	0.488000													4	31					0	0	1	0	0
EIF4A3	9775	broad.mit.edu	37	17	78112043	78112043	+	Silent	SNP	G	G	A	rs61756263		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78112043G>A	ENST00000269349.3	-	8	986	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	255	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			CCACTGCCACGAAAAATTGCT	0.468000													14	75					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721223	13721223	+	Silent	SNP	G	G	A	rs138781046		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13721223G>A	ENST00000265104.4	-	71	12269	c.12165C>T	c.(12163-12165)ccC>ccT	p.P4055P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4055	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGAATCTGTGGGGTCTGAGC	0.498000									Kartagener syndrome				11	44					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518274	108518274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:108518274G>A	ENST00000375915.2	-	1	809	c.671C>T	c.(670-672)tCg>tTg	p.S224L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	224						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATTACAAAACGAAAGGTAAAA	0.577000													12	91					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	89978948	89978948	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89978948G>A	ENST00000402938.3	-	4	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GABRR2_ENST00000602399.1_Silent_p.F123F			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	123					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			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGGTCATAGTGAAGTCCTGTG	0.517000													7	73					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41055511	41055511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41055511C>T	ENST00000324545.7	+	27	4618	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	USP9X_ENST00000378308.2_Missense_Mutation_p.R1329C	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1329					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAACTGTTCGTCAGGTGGC	0.398000													12	13					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1041405	1041405	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1041405C>T	ENST00000263094.6	+	2	276	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ABCA7_ENST00000433129.1_Silent_p.F15F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	15					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAGAATTTCATGTATCGCC	0.632000													11	97					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71606176	71606176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:71606176C>T	ENST00000355962.4	-	6	752	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	207					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GCTGTCTTTTCATCAATTAGA	0.418000													5	49					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97464958	97464958	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97464958C>T	ENST00000377075.2	+	4	1944	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	CNNM4_ENST00000540067.1_Silent_p.L103L|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	616					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CATCCTCATCCTGCAGGTGAG	0.597000													8	77					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467272	56467272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56467272C>T	ENST00000291971.3	+	3	1919	c.1848C>T	c.(1846-1848)atC>atT	p.I616I	NLRP8_ENST00000590542.1_Silent_p.I616I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	616						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGCATGAAATCCGGGAGGAAG	0.443000													4	39					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53851900	53851900	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:53851900G>A	ENST00000315251.5	-	9	2126	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	563					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCTTCTCTGCGATCATGATTG	0.587000													5	61					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20648726	20648726	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20648726G>A	ENST00000219151.4	-	8	1231	c.21C>T	c.(19-21)ttC>ttT	p.F7F	ACSM1_ENST00000520010.1_Silent_p.F388F|ACSM1_ENST00000307493.4_Silent_p.F388F			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	388					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCTTCCCCATGAAACCCGGCT	0.537000													6	41					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873791	36873791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36873791C>T	ENST00000429976.2	-	21	7398	c.7151G>A	c.(7150-7152)aGg>aAg	p.R2384K	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1834K|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1834K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2384					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAAAAAGAGCCTCTTGTAGTC	0.463000													8	95					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48258241	48258241	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48258241G>A	ENST00000394747.1	-	4	844	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ABCC11_ENST00000537808.1_Silent_p.F165F|ABCC11_ENST00000353782.5_Silent_p.F165F|ABCC11_ENST00000394748.1_Silent_p.F165F|ABCC11_ENST00000356608.2_Silent_p.F165F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GAAGTGCATCGAAAATCAACC	0.512000													6	39					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115168137	115168137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115168137G>A	ENST00000393274.1	-	4	1094	c.469C>T	c.(469-471)Ccc>Tcc	p.P157S	DENND2C_ENST00000393276.3_Missense_Mutation_p.P157S|DENND2C_ENST00000393277.1_Missense_Mutation_p.P157S	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	157										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		TTATCTGGGGGAAGTGCTTCT	0.368000													4	30					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57992319	57992319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57992319C>T	ENST00000564448.1	-	11	874	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	CNGB1_ENST00000311183.4_Missense_Mutation_p.E278K|CNGB1_ENST00000251102.8_Missense_Mutation_p.E278K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	278					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTGACCTGTTCCCCTATTTTC	0.617000													8	54					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3003365	3003365	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3003365C>T	ENST00000216877.6	+	15	1732	c.1332C>T	c.(1330-1332)gtC>gtT	p.V444V	PTPRA_ENST00000358719.4_Silent_p.V309V|PTPRA_ENST00000380393.3_Silent_p.V453V|PTPRA_ENST00000318266.5_Silent_p.V444V|PTPRA_ENST00000425918.2_Silent_p.V464V|PTPRA_ENST00000399903.2_Silent_p.V453V|PTPRA_ENST00000356147.3_Silent_p.V444V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	453	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GTACCTTTGTCGTCATTGATG	0.572000													10	62					0	0	1	0	0
MTMR9	66036	broad.mit.edu	37	8	11157626	11157626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11157626C>T	ENST00000221086.3	+	3	859	c.386C>T	c.(385-387)cCt>cTt	p.P129L	MTMR9_ENST00000526292.1_Missense_Mutation_p.P44L	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	129	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCCTTCCTTCCTGAGCAAGAA	0.408000													5	35					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80040808	80040808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80040808G>A	ENST00000306749.2	-	33	5967	c.5749C>T	c.(5749-5751)Cgc>Tgc	p.R1917C	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1917	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATCCCGGAGCGAGAAGTCAAC	0.647000													7	21					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823738	176823738	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176823738C>T	ENST00000324417.5	+	11	1270	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	393					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCAGACTTCCCTGCCCCCT	0.647000													7	52					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372516	126372516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:126372516G>A	ENST00000394329.3	+	9	10358	c.10345G>A	c.(10345-10347)Gaa>Aaa	p.E3449K	FAT4_ENST00000335110.5_Missense_Mutation_p.E1747K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3449	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCAGGGAATGAAAATGGTGC	0.463000													5	20					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40761046	40761046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40761046C>T	ENST00000216194.7	+	12	1410	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	ADSL_ENST00000454266.2_Missense_Mutation_p.R466C|ADSL_ENST00000342312.6_Intron|RP5-1042K10.13_ENST00000498234.1_RNA	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	452			R -> P (in ADSL deficiency; severe).		AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TTTCACTGGTCGTGCCTCCCA	0.488000													7	95					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26862034	26862034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26862034G>A	ENST00000226247.2	+	7	1474	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	FOXN1_ENST00000579795.1_Missense_Mutation_p.R482Q	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	482					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CTTGAGCTGCGGGCCCAGCCA	0.677000													11	48					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635292	32635292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:32635292C>T	ENST00000242310.4	-	1	375	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	96					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CACCCTTCATCATTTACCAAG	0.512000													27	115					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20721258	20721258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:20721258G>A	ENST00000404938.2	+	15	2490	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R168Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	168	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATGGCAAAACGAGGTCTATAT	0.418000													8	47					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341345	39341345	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39341345C>T	ENST00000454994.2	-	2	702	c.426G>A	c.(424-426)agG>agA	p.R142R	RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Silent_p.R142R|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.R142R|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	142					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TATTTAGTTTCCTTTTCTCCA	0.438000													25	90					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876092	154876092	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154876092C>T	ENST00000287907.2	+	2	1545	c.969C>T	c.(967-969)ttC>ttT	p.F323F	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	323						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAAGCATCTTCCTGTGGCTTG	0.507000													10	137					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996141	140996141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140996141C>T	ENST00000285879.4	+	4	3237	c.2951C>T	c.(2950-2952)tCt>tTt	p.S984F	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S51F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	984	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCACCTCTGAGGGGTGT	0.478000										HNSCC(15;0.026)			7	58					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31418929	31418929	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31418929G>A	ENST00000389202.2	+	8	847	c.798G>A	c.(796-798)ctG>ctA	p.L266L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	266	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAGACCCCCTGGAATACAGTG	0.547000													7	63					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926676	130926676	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130926676C>T	ENST00000261655.4	-	8	1333	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	RIMBP2_ENST00000536002.1_Silent_p.V298V|RIMBP2_ENST00000535703.1_Silent_p.V298V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	390						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGCCACCACCACGTCCTTGC	0.637000													4	28					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398520	57398520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57398520T>A	ENST00000300101.2	-	2	267	c.182A>T	c.(181-183)aAt>aTt	p.N61I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	61	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AAGCCCAGTATTCAGGAAGAG	0.552000													18	128					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816824	2816824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2816824C>T	ENST00000301740.8	+	11	6844	c.6295C>T	c.(6295-6297)Cat>Tat	p.H2099Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2099	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AACAAGAAATCATTCTGGTTC	0.512000													30	121					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561197	11561197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11561197C>T	ENST00000294484.6	+	2	286	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P50S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	50					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCGGCACTGGCCCCTGGCTTC	0.657000													16	62					0	0	1	0	0
MFSD4	148808	broad.mit.edu	37	1	205549803	205549803	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205549803C>T	ENST00000367147.4	+	3	537	c.444C>T	c.(442-444)ttC>ttT	p.F148F	MFSD4_ENST00000539267.1_Silent_p.F148F|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	148					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCATTTCTTCGTGGGCTTTG	0.637000													39	127					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313362	54313362	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54313362G>A	ENST00000324134.6	-	3	1719	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	NLRP12_ENST00000351894.4_Silent_p.F517F|NLRP12_ENST00000535162.1_Silent_p.F517F|NLRP12_ENST00000354278.3_Silent_p.F517F|NLRP12_ENST00000345770.5_Silent_p.F517F|NLRP12_ENST00000391775.3_Silent_p.F517F|NLRP12_ENST00000391772.1_Silent_p.F517F|NLRP12_ENST00000391773.1_Silent_p.F517F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	517	NACHT.				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)		AGAATTCCTGGAAACTCAAGT	0.537000													19	109					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264393	46264393	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:46264393C>T	ENST00000372004.3	+	11	1656	c.1440C>T	c.(1438-1440)atC>atT	p.I480I	NCOA3_ENST00000371997.3_Silent_p.I490I|NCOA3_ENST00000371998.3_Silent_p.I480I|NCOA3_ENST00000341724.6_Silent_p.I490I	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	480					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGCAGAATATCATGATTTCTC	0.443000													8	57					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52844314	52844314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52844314C>T	ENST00000252252.3	-	2	678	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	211	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AACAACGGCTCCAGGTTCTGC	0.587000													14	64					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36910047	36910047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36910047C>T	ENST00000310758.4	-	20	2503	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	ELMO1_ENST00000396040.2_Missense_Mutation_p.G139E|ELMO1_ENST00000442504.1_Missense_Mutation_p.G619E|ELMO1_ENST00000396045.3_Missense_Mutation_p.G139E|ELMO1_ENST00000341056.3_Missense_Mutation_p.G321E|ELMO1_ENST00000448602.1_Missense_Mutation_p.G619E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	619	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						GCAGTCCTTTCCCGTCACCAC	0.413000													5	29					0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134332079	134332079	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:134332079C>T	ENST00000282611.6	+	3	455	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	123					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTATCATCGTTATGTTTT	0.483000													6	34					0	0	1	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58089083	58089083	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:58089083C>T	ENST00000407042.3	-	0	779																											GTGGAGCCATCAGCTGCAAGA	0.627000													16	94					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954853	56954853	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56954853T>C	ENST00000497933.1	+	2	1072	c.925T>C	c.(925-927)Ttc>Ctc	p.F309L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	279	Poly-Glu.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTTCGTGGGCTTCGTGGTCTC	0.582000													4	56					0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46073635	46073635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46073635C>T	ENST00000350030.3	+	6	1139	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.A353V|NASP_ENST00000537798.1_Missense_Mutation_p.A287V|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	351	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					ACAACAGAGGCTGCAGAGGCC	0.532000													14	95					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40773305	40773305	+	Missense_Mutation	SNP	G	G	A	rs146060713		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:40773305G>A	ENST00000602553.1	-	5	2264	c.1970C>T	c.(1969-1971)cCc>cTc	p.P657L	ZNF658_ENST00000377626.3_Missense_Mutation_p.P657L|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACATTCATAGGGTTTCTCCCC	0.423000													11	63					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898295	46898295	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46898295C>T	ENST00000378623.1	-	24	3606	c.3364_splice	c.e24+1	p.G1122_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1122					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GAAGGCCCACCTGTGGTGATG	0.537000													11	103					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887660	97887660	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:97887660C>T	ENST00000356526.2	+	1	117	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATCACCATCATGGGGAATC	0.413000													4	31					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561593	45561593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45561593G>A	ENST00000347644.3	+	14	1491	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	476					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGAGTGGACAGACTGTCCAAT	0.438000													6	47					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785406	111785406	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:111785406C>T	ENST00000261726.6	+	22	3892	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1246						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTCCTGGAATCCTACCGCCAG	0.652000													5	80					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48609802	48609802	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48609802G>A	ENST00000599111.1	-	2	347	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	PLA2G4C_ENST00000599921.1_5'UTR|PLA2G4C_ENST00000354276.3_5'UTR	NM_001159322.1|NM_003706.2	NP_001152794.1|NP_003697.2	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	364	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ACTGCGGTCAGAAAATTCTCA	0.517000													5	57					0	0	1	0	0
OSM	5008	broad.mit.edu	37	22	30659890	30659890	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30659890C>T	ENST00000215781.2	-	3	781	c.741G>A	c.(739-741)agG>agA	p.R247R	OSM_ENST00000403389.1_Silent_p.R226R	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	247					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCAGCTGTCCCCTGGTCATGA	0.657000													8	139					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39752126	39752126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39752126C>T	ENST00000395670.3	-	8	1488	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	KIF21A_ENST00000541463.2_Missense_Mutation_p.E357K|KIF21A_ENST00000361418.5_Missense_Mutation_p.E357K|KIF21A_ENST00000544797.2_Missense_Mutation_p.E357K|KIF21A_ENST00000361961.3_Missense_Mutation_p.E357K			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	357					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTAACGTTTCCATAAAGTCT	0.393000													4	63					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146351	156146351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156146351G>A	ENST00000368285.3	+	15	2116	c.1849G>A	c.(1849-1851)Gga>Aga	p.G617R	SEMA4A_ENST00000368282.1_Missense_Mutation_p.G617R|SEMA4A_ENST00000368284.1_Missense_Mutation_p.G485R|SEMA4A_ENST00000368286.2_Missense_Mutation_p.G485R|SEMA4A_ENST00000355014.2_Missense_Mutation_p.G617R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	617	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTGCAGGATGGAGTTGGGGG	0.557000													7	82					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991585	144991585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144991585G>A	ENST00000322810.4	-	32	12984	c.12815C>T	c.(12814-12816)tCc>tTc	p.S4272F	PLEC_ENST00000527096.1_Missense_Mutation_p.S4158F|PLEC_ENST00000398774.2_Missense_Mutation_p.S4103F|PLEC_ENST00000354589.3_Missense_Mutation_p.S4135F|PLEC_ENST00000354958.2_Missense_Mutation_p.S4113F|PLEC_ENST00000356346.3_Missense_Mutation_p.S4121F|PLEC_ENST00000357649.2_Missense_Mutation_p.S4139F|PLEC_ENST00000345136.3_Missense_Mutation_p.S4135F|PLEC_ENST00000436759.2_Missense_Mutation_p.S4162F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4272	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTGCGCACGGAGGACTTGGA	0.617000													5	45					0	0	1	0	0
RSPH3	83861	broad.mit.edu	37	6	159420479	159420479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159420479C>T	ENST00000367069.2	-	1	740	c.104G>A	c.(103-105)aGc>aAc	p.S35N	RSPH3_ENST00000252655.1_Missense_Mutation_p.S177N|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.S35N|RSPH3_ENST00000297262.3_Missense_Mutation_p.S177N			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	177										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CTGCGTCAGGCTGTCCCGGTA	0.677000													4	60					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96077343	96077343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:96077343C>T	ENST00000343702.4	-	6	1773	c.1325G>A	c.(1324-1326)gGa>gAa	p.G442E	NTN4_ENST00000344911.4_Missense_Mutation_p.G405E|NTN4_ENST00000538383.1_Missense_Mutation_p.G405E|NTN4_ENST00000553059.1_Missense_Mutation_p.G442E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	442	Laminin EGF-like 3.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GCCATAGTCTCCGAAGCCCCA	0.597000													6	38					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720640	140720640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140720640C>T	ENST00000394576.2	+	1	2102	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGGTCTCCTGCGTCTTC	0.662000													9	127					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30437808	30437808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30437808G>A	ENST00000355904.4	-	7	1031	c.749C>T	c.(748-750)cCa>cTa	p.P250L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	250					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CACTTTCTTTGGTCCAGATTC	0.488000													9	38					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32889265	32889265	+	Nonsense_Mutation	SNP	C	C	T	rs78099169		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32889265C>T	ENST00000266087.7	+	7	1468	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	FBXO7_ENST00000382058.3_Nonsense_Mutation_p.R302*|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.R267*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	381					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCGTGATTTTCGAGGTGATTT	0.408000													4	39					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947691	145947691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145947691G>A	ENST00000292562.7	-	5	1629	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TGAACTCTTCGATGCTGAACA	0.498000													5	59					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924858	89924858	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89924858C>T	ENST00000378247.3	+	8	1258	c.1215C>T	c.(1213-1215)ccC>ccT	p.P405P	SPIRE2_ENST00000393062.2_Silent_p.P405P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	405					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCCCGCGGCCCCGCGTGCTGC	0.597000													7	83					0	0	1	0	0
RNF141	50862	broad.mit.edu	37	11	10546848	10546848	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10546848C>G	ENST00000265981.2	-	4	467	c.325G>C	c.(325-327)Gat>Cat	p.D109H	RNF141_ENST00000528665.1_Missense_Mutation_p.D109H	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	109							zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CTTGTGATATCTTTATAAAGT	0.378000													4	42					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44238470	44238470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:44238470C>T	ENST00000266534.3	+	2	143	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	TMEM117_ENST00000551577.1_Missense_Mutation_p.R6C	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	6						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TAAAGACTTTCGTTACTATTT	0.403000													12	66					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73728000	73728000	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73728000C>T	ENST00000200181.3	+	11	1510	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S441S|ITGB4_ENST00000450894.3_Silent_p.S441S|ITGB4_ENST00000449880.2_Silent_p.S441S|ITGB4_ENST00000339591.3_Silent_p.S441S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	441					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCCTTCTCCGACGGCCTCA	0.637000													4	57					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091780	10091780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10091780C>T	ENST00000264828.3	-	33	2574	c.2489G>A	c.(2488-2490)gGa>gAa	p.G830E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	830	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)			TCCCCGCTCTCCTTCCAGGCC	0.522000													6	114					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701744	143701744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143701744G>A	ENST00000408922.2	+	1	723	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G219R(1)|p.G219*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCTGTCCTACGGATGCATTCT	0.468000													4	79					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43435585	43435585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43435585G>A	ENST00000282041.5	-	43	7544	c.7510C>T	c.(7510-7512)Cgt>Tgt	p.R2504C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2504					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGCCTCAAACGGATCTGATCT	0.483000													5	36					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43023869	43023869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43023869G>A	ENST00000356231.3	-	11	1711	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	563						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCCTGGGAAGGTGGGGGGTGG	0.607000													7	76					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9000758	9000758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9000758G>A	ENST00000305997.3	-	12	1520	c.1322C>T	c.(1321-1323)tCa>tTa	p.S441L		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	441					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACGTGAGTGATGGTTTTAT	0.313000													4	58					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120383175	120383175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120383175G>A	ENST00000602047.1	+	16	1681	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PCDP1_ENST00000413369.3_Missense_Mutation_p.R476Q|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		476						cilium	calmodulin binding					Colorectal(110;0.196)					ATTCAGGGACGATTATTCAAT	0.388000													3	10					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043426	20043426	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043426G>A	ENST00000570682.1	-	2	993	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	231						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGTAATGGTGAACAAGATGG	0.517000													7	36					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201196023	201196023	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201196023G>A	ENST00000335211.4	+	23	10930	c.10800G>A	c.(10798-10800)gtG>gtA	p.V3600V	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTTCACAGTGAAGGCTCCGT	0.632000													16	125					0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12984110	12984110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:12984110C>T	ENST00000262124.11	+	8	1118	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	SEH1L_ENST00000592582.1_3'UTR|SEH1L_ENST00000399892.2_Nonsense_Mutation_p.Q331*	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	331					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						TGGGAGTTCTCAGCAGGGAAC	0.398000													5	53					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57485864	57485864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57485864C>T	ENST00000371100.4	+	13	3646	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371085.3_Missense_Mutation_p.R389C|GNAS_ENST00000371095.3_Missense_Mutation_p.R375C|GNAS_ENST00000371102.4_Missense_Mutation_p.R1018C|GNAS_ENST00000354359.7_Missense_Mutation_p.R390C|GNAS_ENST00000306090.10_Missense_Mutation_p.R375C|GNAS_ENST00000265620.7_Missense_Mutation_p.R374C	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	389					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R389C(1)|p.R1032C(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATGCACCTTCGTCAGTACGA	0.458000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			7	66					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106845243	106845243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106845243G>A	ENST00000276185.4	+	16	4073	c.4073G>A	c.(4072-4074)aGg>aAg	p.R1358K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1358						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGAGGGAAAGGGACAGAGTC	0.672000													7	22					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895018	23895018	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23895018G>A	ENST00000355349.3	-	20	2334	c.2172C>T	c.(2170-2172)atC>atT	p.I724I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	724	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGGGTTCAGGATGCGATACC	0.547000													4	60					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257370	114257370	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:114257370C>T	ENST00000306507.5	+	1	710	c.537C>T	c.(535-537)acC>acT	p.T179T		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	179					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCAAGGGCACCTACTGGAGCC	0.647000													32	403					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101549206	101549206	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101549206C>T	ENST00000284395.5	+	8	1318	c.918C>T	c.(916-918)ctC>ctT	p.L306L	LRRK1_ENST00000388948.3_Silent_p.L309L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	309					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTGAACCTCTCCGACAACC	0.632000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	4013104	4013104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4013104G>A	ENST00000381638.2	-	6	1244	c.1120C>T	c.(1120-1122)Cat>Tat	p.H374Y	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	374	DOC.						calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAGACCATGAATTCTAGTG	0.433000													6	46					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548993	52548993	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52548993G>A	ENST00000242839.4	-	2	519	c.363C>T	c.(361-363)ttC>ttT	p.F121F	ATP7B_ENST00000418097.2_Silent_p.F121F|ATP7B_ENST00000542656.1_Silent_p.F89F|ATP7B_ENST00000400366.3_Silent_p.F121F|ATP7B_ENST00000344297.5_Silent_p.F121F|ATP7B_ENST00000448424.2_Silent_p.F121F|ATP7B_ENST00000400370.3_Silent_p.F121F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	121	HMA 1.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCTGGCCTCGAAGCCCATGT	0.582000									Wilson disease				8	51					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347351	71347351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71347351C>T	ENST00000413702.1	+	4	1178	c.890C>T	c.(889-891)tCc>tTc	p.S297F	MUC7_ENST00000456088.1_Missense_Mutation_p.S297F|MUC7_ENST00000304887.5_Missense_Mutation_p.S297F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	297	Thr-rich.					extracellular region	protein binding	p.S297Y(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCGTCTTCCCCAGCTCCA	0.557000													9	84					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61558518	61558518	+	Missense_Mutation	SNP	A	A	G	rs141186617		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61558518A>G	ENST00000290866.4	+	6	938	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ACE_ENST00000428043.1_Missense_Mutation_p.N305S|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.N305S	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	305	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACAAGCCCAACCTCGATGTC	0.577000													9	91					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44282250	44282250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44282250C>T	ENST00000216177.4	-	6	1014	c.882G>A	c.(880-882)tgG>tgA	p.W294*	PNPLA5_ENST00000381198.2_Nonsense_Mutation_p.W180*|PNPLA5_ENST00000593866.1_Nonsense_Mutation_p.W180*|PNPLA5_ENST00000597664.1_Nonsense_Mutation_p.W294*	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	294					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGGGCACTTTCCAGTTGAGAG	0.577000													9	58					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777484	237777484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237777484C>T	ENST00000366574.2	+	37	5373	c.5056C>T	c.(5056-5058)Ctc>Ttc	p.L1686F	RYR2_ENST00000360064.6_Missense_Mutation_p.L1684F|RYR2_ENST00000542537.1_Missense_Mutation_p.L1670F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1686	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTCAGCTCCTCTATGCCAT	0.552000													5	23					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037241	3037241	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3037241C>T	ENST00000398052.4	+	13	1741	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	GRK4_ENST00000398051.4_Silent_p.F434F|GRK4_ENST00000345167.6_Silent_p.F434F|GRK4_ENST00000504933.1_Silent_p.F466F|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	466	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCCCTTTCTGTCCTGATG	0.557000													7	76					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645307	4645307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4645307C>T	ENST00000433935.1	+	4	982	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	ZMYND15_ENST00000592813.1_Missense_Mutation_p.R309C|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R309C|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R309C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	309							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGCTTCCCTTCGTGCTCGAAC	0.577000													4	83					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	G	A	rs1689291		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53103927G>A	ENST00000408890.4	+	1	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000													10	67					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276445	63276445	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63276445C>T	ENST00000415491.2	+	2	851	c.237C>T	c.(235-237)ttC>ttT	p.F79F	LGALS12_ENST00000394618.3_Silent_p.F140F|LGALS12_ENST00000340246.5_Silent_p.F141F|LGALS12_ENST00000425950.2_Silent_p.F79F|LGALS12_ENST00000255684.5_Silent_p.F140F	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	140	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TCTTTCTCTTCGGGAATGAGG	0.597000													8	25					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501499	55501499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55501499G>A	ENST00000543010.1	+	9	2619	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	NLRP2_ENST00000263437.6_Missense_Mutation_p.E823K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E804K|NLRP2_ENST00000448584.2_Missense_Mutation_p.E826K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E802K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E802K|NLRP2_ENST00000427260.2_Missense_Mutation_p.E803K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E804K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	826					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCTTCTGGATGAGGGTGCTAA	0.517000													5	61					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134510	96134510	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96134510C>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		ACAAATGTTTCAAATTAAGCC	0.433000			T	TRA@	T-ALL								14	57					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579531	57579531	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57579531C>T	ENST00000243077.3	+	41	7147	c.6681C>T	c.(6679-6681)ttC>ttT	p.F2227F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2227					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCAGCCCTTCGAGGACCCTG	0.607000													11	38					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072602	134072602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134072602G>A	ENST00000264360.4	+	1	2133	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTAGTGGCTCGGGACCGGGGC	0.597000													22	169					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215840562	215840562	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215840562C>T	ENST00000272895.7	-	34	5547	c.5328G>A	c.(5326-5328)gaG>gaA	p.E1776E	ABCA12_ENST00000389661.4_Silent_p.E1458E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1776					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGATCTGAATCTCTGGATAAC	0.448000													8	21					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957251	57957251	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57957251C>T	ENST00000455537.2	+	2	433	c.159C>T	c.(157-159)ttC>ttT	p.F53F	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	53	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCGTGTATTCCCCCCAAACA	0.418000													7	36					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32873263	32873263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:32873263G>A	ENST00000538132.1	-	9	1452	c.1066C>T	c.(1066-1068)Cat>Tat	p.H356Y	AHCY_ENST00000217426.2_Missense_Mutation_p.H384Y	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	384					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGCAGGAAATGAACCCCAACG	0.537000													11	59					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834295	179834295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179834295G>A	ENST00000553856.1	-	1	16	c.17C>T	c.(16-18)tCa>tTa	p.S6L	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					AGGGCAATGTGAATTATCTGA	0.433000													7	53					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167666	28167666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28167666G>A	ENST00000304658.5	-	7	1326	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	XPO6_ENST00000565698.1_Missense_Mutation_p.H262Y	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	276					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CGTGCAAAGTGGAAGATGGTG	0.572000													7	53					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101911118	101911118	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101911118C>T	ENST00000537097.1	+	6	3090	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	GPRASP1_ENST00000444152.1_Silent_p.A759A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.A759A|GPRASP1_ENST00000415986.1_Silent_p.A759A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	759	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATGAAGCCATTTCAGAGG	0.473000													12	60					0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64518906	64518906	+	Silent	SNP	G	G	A	rs148177970		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64518906G>A	ENST00000164139.3	-	16	2258	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	PYGM_ENST00000377432.3_Silent_p.I532I|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	620					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGAGTCTGATGATCATCTTGG	0.602000													13	66					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235344	81235344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:81235344G>A	ENST00000394685.3	+	28	4177	c.3758G>A	c.(3757-3759)gGg>gAg	p.G1253E	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G1253E|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G1253E|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1253										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGATTGACGGGAACCAAGGG	0.567000													16	213					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62458830	62458830	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62458830G>A	ENST00000433053.1	-	8	1483	c.927C>T	c.(925-927)ttC>ttT	p.F309F	BSCL2_ENST00000403550.1_Silent_p.F245F|BSCL2_ENST00000407022.3_Silent_p.F245F|BSCL2_ENST00000278893.7_Intron|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000405837.1_Silent_p.F309F|BSCL2_ENST00000360796.5_Silent_p.F309F|BSCL2_ENST00000421906.1_Silent_p.F245F			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	245					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGACGCTGAGGAAGGTGAAGT	0.567000													29	388					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028227	21028227	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21028227C>T	ENST00000381545.3	+	9	1005	c.786C>T	c.(784-786)ttC>ttT	p.F262F	SLCO1B3_ENST00000261196.2_Silent_p.F262F|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.F262F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F262F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	262					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGCTTGGTTTCCTTGTGTCTG	0.363000													5	62					0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52960048	52960048	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52960048G>T	ENST00000394752.3	-	10	1512	c.1131_splice	c.e10+1	p.P377_splice	SFMBT1_ENST00000394750.1_Splice_Site_p.P377_splice|SFMBT1_ENST00000358080.2_Splice_Site_p.P377_splice|SFMBT1_ENST00000296295.6_Splice_Site_p.P377_splice	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	377					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGTCCTCACCGGAGGGAAGCA	0.557000													7	115					3.09899e-07	3.14657e-07	1	1	0
PASK	23178	broad.mit.edu	37	2	242054387	242054387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242054387G>A	ENST00000403638.3	-	14	3495	c.3404C>T	c.(3403-3405)tCa>tTa	p.S1135L	PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000544142.1_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ATGGATCACTGATCTTTGCAG	0.512000													11	127					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90794019	90794019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90794019C>T	ENST00000561573.1	+	2	421	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	TTLL13_ENST00000438251.1_Missense_Mutation_p.P53S|TTLL13_ENST00000339615.5_Missense_Mutation_p.P53S																							AAATGGGGTTCCCTCACCCAT	0.473000													7	105					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468992	156468992	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:156468992G>A	ENST00000311822.8	+	9	1010	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000432459.2_Intron|RNF32_ENST00000405335.1_Intron|RNF32_ENST00000392743.2_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000317955.5_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	289						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AACACAGAATGAAACTTCCGC	0.388000													5	9					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33413825	33413825	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33413825C>T	ENST00000404816.2	+	7	1961	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	LTBP1_ENST00000407925.1_Silent_p.S210S|LTBP1_ENST00000404525.1_Silent_p.S210S|LTBP1_ENST00000402934.1_Silent_p.S210S|LTBP1_ENST00000354476.3_Silent_p.S536S|LTBP1_ENST00000390003.4_Silent_p.S210S|LTBP1_ENST00000418533.2_Silent_p.S210S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	536					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCATACATTCCACATACTCCC	0.537000													4	109					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130714935	130714935	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130714935C>T	ENST00000510168.1	+	23	2656	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	ATP2C1_ENST00000533801.2_Silent_p.F697F|ATP2C1_ENST00000505330.1_Silent_p.F686F|ATP2C1_ENST00000507488.2_Silent_p.F686F|ATP2C1_ENST00000328560.8_Silent_p.F702F|ATP2C1_ENST00000504381.1_Silent_p.F647F|ATP2C1_ENST00000508532.1_Silent_p.F702F|ATP2C1_ENST00000513801.1_Silent_p.F686F|ATP2C1_ENST00000422190.2_Silent_p.F702F|ATP2C1_ENST00000393221.4_Silent_p.F736F|ATP2C1_ENST00000504948.1_Silent_p.F686F|ATP2C1_ENST00000359644.3_Silent_p.F702F|ATP2C1_ENST00000428331.2_Silent_p.F702F			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	702					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)	TTAAAAATTTCGTTAGATTCC	0.308000									Hailey-Hailey disease				14	75					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622191	37622191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37622191G>A	ENST00000434837.2	-	6	2019	c.841C>T	c.(841-843)Cca>Tca	p.P281S	MDGA1_ENST00000505425.1_Missense_Mutation_p.P281S|MDGA1_ENST00000297153.7_Missense_Mutation_p.P281S	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	281	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGGGCAGTGGGCCAGGCCCA	0.637000													4	31					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221913020	221913020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:221913020G>A	ENST00000366899.3	-	2	305	c.67C>T	c.(67-69)Ctc>Ttc	p.L23F	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	23					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CAAAGGTTGAGATCCTGAGGT	0.537000													17	109					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680181	48680181	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48680181G>A	ENST00000352832.5	+	19	4219	c.3846_splice	c.e19-1	p.E1283_splice	CACNA1G_ENST00000510366.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000514717.1_Splice_Site_p.E1283_splice|CACNA1G_ENST00000442258.2_Splice_Site_p.E1283_splice|CACNA1G_ENST00000502264.1_Splice_Site_p.E1283_splice|CACNA1G_ENST00000507896.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000507510.2_Splice_Site_p.E1306_splice|CACNA1G_ENST00000507609.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000416767.4_Splice_Site_p.E1306_splice|CACNA1G_ENST00000507336.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000360761.4_Splice_Site_p.E1283_splice|CACNA1G_ENST00000514181.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000358244.5_Splice_Site_p.E1283_splice|CACNA1G_ENST00000515765.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000359106.5_Splice_Site_p.E1306_splice|CACNA1G_ENST00000505165.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000514079.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000513964.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000429973.2_Splice_Site_p.E1306_splice|CACNA1G_ENST00000512389.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000513689.2_Splice_Site_p.E1306_splice|CACNA1G_ENST00000515411.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000354983.4_Splice_Site_p.E1283_splice|CACNA1G_ENST00000510115.1_Splice_Site_p.E1283_splice|CACNA1G_ENST00000515165.1_Splice_Site_p.E1306_splice|CACNA1G_ENST00000503485.1_Splice_Site_p.E1306_splice	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1306					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCTCTTGCAGGAACGCATCTT	0.552000													4	37					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590418	156590418	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156590418C>T	ENST00000302938.4	-	2	953	c.858G>A	c.(856-858)ggG>ggA	p.G286G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	286	Ala-rich.					nucleus		p.G286G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATTGCTGCCCCTGCTATTG	0.567000													12	167					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102605694	102605694	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102605694G>A	ENST00000334701.7	-	1	329	c.48C>T	c.(46-48)tcC>tcT	p.S16S	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TGTCCCGAAGGGAGGGCCCAG	0.726000													4	29					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48602350	48602350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48602350C>T	ENST00000323776.5	+	13	2039	c.1877C>T	c.(1876-1878)aCc>aTc	p.T626I	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.T589I	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	589					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCCTATCTCACCGAGGAAGAC	0.647000													16	71					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10523120	10523120	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10523120A>T	ENST00000377038.3	-	5	845	c.778T>A	c.(778-780)Ttg>Atg	p.L260M	DFFA_ENST00000377036.2_Missense_Mutation_p.L260M	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	260					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCCACCTCCAAATCCTGACTA	0.557000													8	77					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431444	106431444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:106431444G>A	ENST00000407775.2	+	2	363	c.113G>A	c.(112-114)gGa>gAa	p.G38E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	38					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCTCCAAAGGAGACTTTCCA	0.423000													3	19					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885473	43885473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43885473C>T	ENST00000562955.1	+	8	948	c.948C>T	c.(946-948)atC>atT	p.I316I		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	316						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGAAGTTCATCGCAATGGCAA	0.502000													6	47					0	0	1	0	0
CELP	1057	broad.mit.edu	37	9	135961730	135961730	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135961730G>A	ENST00000411440.2	+	0	565					NR_001275.2																						CCATAGAGATGAGATCCAGTA	0.597000													12	143					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12012173	12012173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:12012173C>T	ENST00000269159.3	+	4	582	c.340C>T	c.(340-342)Ccg>Tcg	p.P114S	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	114					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTGCAGATTCCCGACTGTGGC	0.607000													14	192					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24537878	24537878	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24537878C>T	ENST00000342740.5	+	37	3922	c.3768C>T	c.(3766-3768)ttC>ttT	p.F1256F	LRRC16B_ENST00000334420.7_Silent_p.F309F	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1256										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGACCCTCTTCCCAGAGAGGA	0.592000													5	27					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262039	45262039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45262039C>T	ENST00000164227.5	+	8	1362	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	373	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGCCAGACCCCTCCCCTGAC	0.657000			T	IGH@	CLL								14	144					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95683691	95683691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:95683691G>A	ENST00000433389.2	+	11	1434	c.1244G>A	c.(1243-1245)cGa>cAa	p.R415Q	ESRP1_ENST00000454170.2_Missense_Mutation_p.R415Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R415Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R415Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	415					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGCTGAATCGATTCTCCTCG	0.478000													16	243					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009409	120009409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:120009409C>T	ENST00000371311.3	-	1	370	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	39										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCTGTCGGGGCCGGAGTCGCC	0.736000													8	63					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021201	45021201	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45021201G>A	ENST00000454753.1	-	0	1393							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ACACTGCAGGGTCAGGCTGGA	0.567000													32	225					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520826	131520826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131520826G>A	ENST00000423981.1	+	2	1291	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	AMER3_ENST00000321420.4_Missense_Mutation_p.G394E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TTCTCGCCAGGACTTGAGGAG	0.612000													4	55					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719572	21719572	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:21719572C>T	ENST00000358491.4	+	4	925	c.717C>T	c.(715-717)aaC>aaT	p.N239N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGCATTTAACCACTACTCAA	0.393000													5	35					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431343	103431343	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103431343C>T	ENST00000412401.2	+	5	811	c.606C>T	c.(604-606)ttC>ttT	p.F202F	TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409528.1_Silent_p.F106F|TMEM182_ENST00000409173.1_Silent_p.F159F	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	202						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGTCATTTTTCCTGGCCCCAG	0.448000													8	13					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10089819	10089819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10089819C>T	ENST00000264828.3	-	39	2948	c.2863G>A	c.(2863-2865)Gag>Aag	p.E955K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	955	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)			TTGGCCCCCTCTCTGCCTTCC	0.587000													5	38					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127693503	127693503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127693503G>A	ENST00000368695.1	+	7	694	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Missense_Mutation_p.R197Q	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	197						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				AAATATCTCCGAAGACATGGC	0.512000													12	112					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482475	178482475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178482475G>A	ENST00000355689.4	-	1	1219	c.955C>T	c.(955-957)Cct>Tct	p.P319S	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	319					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GTCTCTGGAGGAAAGGGATTC	0.468000													21	145					0	0	1	0	0
PLLP	51090	broad.mit.edu	37	16	57295928	57295928	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57295928G>A	ENST00000219207.5	-	2	336	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	PLLP_ENST00000569059.1_Intron	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	64	MARVEL.					integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						CCATAGGCCGGATACAGGTGG	0.562000													4	51					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265495	155265495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155265495C>T	ENST00000392414.3	-	3	356	c.243G>A	c.(241-243)atG>atA	p.M81I	PKLR_ENST00000342741.4_Missense_Mutation_p.M112I	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	112					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCGCAATGTTCATCCCGGCCT	0.632000													11	55					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916031	42916031	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42916031G>A	ENST00000316161.4	-	1	1602	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	CYP8B1_ENST00000437102.1_Silent_p.I426I|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	426					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTAGTGGTGGATCTTCTTGC	0.542000													7	103					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714447	6714447	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6714447C>A	ENST00000245907.6	-	5	607	c.515G>T	c.(514-516)gGc>gTc	p.G172V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	172					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACCGGGATGCCTTCCGGGTT	0.567000													9	33					0.000978159	0.00098854	1	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067039	18067039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:18067039G>A	ENST00000506618.2	-	1	447	c.367C>T	c.(367-369)Cat>Tat	p.H123Y		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	123					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GTGATGATATGATCCGCACCT	0.468000													23	69					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945067	45945067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45945067G>A	ENST00000531526.1	+	3	440	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R79Q|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R110Q|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R110Q|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R79Q|GYLTL1B_ENST00000389968.3_5'UTR	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	110					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		AACTCCAGCCGAGACGTCATC	0.642000													13	97					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756658	756658	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:756658A>G	ENST00000584307.1	-	2	340	c.170T>C	c.(169-171)cTt>cCt	p.L57P	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000577961.1_Missense_Mutation_p.L62P|YES1_ENST00000314574.4_Missense_Mutation_p.L57P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	57					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGTCATGGAAAGACTGCTGAA	0.473000													18	116					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371643	240371643	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240371643C>T	ENST00000319653.9	+	5	3761	c.3531C>T	c.(3529-3531)ccC>ccT	p.P1177P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1177	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCGCCCCCTCTACCTG	0.687000													3	8					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012952	32012952	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32012952G>A	ENST00000375244.3	-	32	10959	c.10758C>T	c.(10756-10758)ttC>ttT	p.F3586F	TNXB_ENST00000451343.1_Silent_p.F15F|TNXB_ENST00000375247.2_Silent_p.F3584F			P22105	TENX_HUMAN	tenascin XB	3631					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						ACTGGACCACGAAGGAATCAA	0.647000													18	379					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021832	132021832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132021832C>T	ENST00000356920.5	+	15	2898	c.2804C>T	c.(2803-2805)tCc>tTc	p.S935F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	935	Actin-like.						ATP binding										TCCAGCTCCTCCCTAGAGAAG	0.627000													20	171					0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166261450	166261450	+	Silent	SNP	C	C	T	rs73862307	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:166261450C>T	ENST00000261507.6	+	5	782	c.609C>T	c.(607-609)atC>atT	p.I203I	MSMO1_ENST00000393766.2_Silent_p.I72I|MSMO1_ENST00000504317.1_Silent_p.I203I	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	203					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	TCATTGGAATCGTGCTTTTGT	0.368000													9	24					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759141	121759141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:121759141G>A	ENST00000261367.7	+	6	2278	c.850G>A	c.(850-852)Gag>Aag	p.E284K	SNCAIP_ENST00000379536.2_Missense_Mutation_p.E237K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E284K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E237K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E284K|SNCAIP_ENST00000504884.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	237					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGAAGAAACCGAGATCTCACC	0.458000													6	19					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74452064	74452064	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74452064A>G	ENST00000339953.5	-	3	470	c.349T>C	c.(349-351)Ttg>Ctg	p.L117L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	117	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAGGACGCCAAGCCCGCGGGC	0.662000													4	54					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638023	65638023	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65638023G>A	ENST00000307998.6	-	5	704	c.474C>T	c.(472-474)atC>atT	p.I158I	EFEMP2_ENST00000528176.1_Silent_p.I158I	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	158	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCGGGCCCGATCTTGCGGT	0.622000													3	15					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015871	34015871	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34015871C>T	ENST00000373381.4	-	56	8999	c.8823G>A	c.(8821-8823)cgG>cgA	p.R2941R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2917	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCAGCTGTACCGCACCACTG	0.597000													10	65					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070922	53070922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53070922C>T	ENST00000252244.3	-	6	1233	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	392	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.R392I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTTTGAATTTCTCACACTATC	0.423000													11	63					0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340846	34340846	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34340846G>A	ENST00000293280.2	-	3	310	c.240C>T	c.(238-240)atC>atT	p.I80I	CCL23_ENST00000591423.1_Silent_p.I63I	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	63					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	GTGAACACGGGATGCTTCGTG	0.517000													7	25					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068517	5068517	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5068517C>T	ENST00000380370.1	+	1	762	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P255T(1)|p.I254I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTTCTATATCCCTTCAGTCT	0.453000													3	15					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	857646	857646	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:857646G>A	ENST00000301698.1	+	2	643	c.643_splice	c.e2+1	p.D215_splice		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	215										large_intestine(1)|lung(1)|skin(1)	3						CCCTCTTACAGGTGGGGAAAC	0.706000													3	23					0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133547639	133547639	+	Missense_Mutation	SNP	G	G	A	rs149351332	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133547639G>A	ENST00000285208.4	-	8	969	c.620C>T	c.(619-621)tCc>tTc	p.S207F	RAB6B_ENST00000486858.1_Missense_Mutation_p.S194F|RAB6B_ENST00000543906.1_Missense_Mutation_p.S207F|RAB6B_ENST00000469959.1_Intron	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	207					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GCATTAGCAGGAGCAGCCGCC	0.587000													44	239					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296747	28296747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:28296747C>T	ENST00000284987.5	-	8	2539	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	806	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTATAGTTCATGACTGTTC	0.443000													9	85					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13975401	13975401	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:13975401G>A	ENST00000343495.5	-	7	1170	c.432C>T	c.(430-432)gaC>gaT	p.D144D	ETV1_ENST00000420159.2_Silent_p.D104D|ETV1_ENST00000430479.1_Silent_p.D162D|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.D122D|ETV1_ENST00000403685.1_Silent_p.D144D|ETV1_ENST00000405358.4_Silent_p.D176D|ETV1_ENST00000405218.2_Silent_p.D162D|ETV1_ENST00000405192.2_Silent_p.D162D|ETV1_ENST00000242066.5_Silent_p.D144D|ETV1_ENST00000399357.3_Intron			P50549	ETV1_HUMAN	ets variant 1	162					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAAGGCCCGGTCAGGTTTCG	0.557000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								14	188					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6984722	6984722	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6984722G>A	ENST00000600751.1	-	0	393					NR_024075.1																						CAATCCGGATGATCATAATCT	0.378000													3	14					0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623830	2623830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:2623830G>A	ENST00000296847.3	-	3	750	c.227C>T	c.(226-228)tCt>tTt	p.S76F		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	76										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGTGGGGAGATGGGGCAGG	0.617000													6	85					0	0	1	0	0
WDR18	57418	broad.mit.edu	37	19	990244	990244	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:990244C>T	ENST00000251289.5	+	4	500	c.477C>T	c.(475-477)tcC>tcT	p.S159S	WDR18_ENST00000587001.2_Silent_p.S159S|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	159										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGACCCCTCCAGGATTCCGG	0.726000													4	21					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516517	154516517	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154516517G>A	ENST00000368482.4	+	9	1420	c.582G>A	c.(580-582)ggG>ggA	p.G194G	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.G194G	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	194							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCGTCCGTGGGGAGGCGGGGC	0.622000													17	122					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123903191	123903191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123903191C>T	ENST00000369005.1	+	7	6144	c.5804C>T	c.(5803-5805)tCc>tTc	p.S1935F	TACC2_ENST00000453444.2_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.S1935F|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1935						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCACTCCCTCCTGCCCAGAT	0.642000													4	42					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612007	53612007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53612007G>A	ENST00000455735.2	-	7	1755	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	ZNF415_ENST00000601493.1_Missense_Mutation_p.R201W|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R431W|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.R479W|ZNF415_ENST00000500065.4_Missense_Mutation_p.R431W|ZNF415_ENST00000440291.1_Missense_Mutation_p.R418W|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R443W			Q09FC8	ZN415_HUMAN	zinc finger protein 415	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGAACTCTCCGATGACTCGCA	0.423000													5	63					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817587	2817587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2817587C>T	ENST00000301740.8	+	11	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2353	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGAATATTGCCGGCTCCAGA	0.627000													11	115					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191869	66191869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66191869C>T	ENST00000311034.2	+	7	1684	c.1508C>T	c.(1507-1509)cCc>cTc	p.P503L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	503					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGTTGACTCCCTGCACCTCC	0.587000													31	190					0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66534583	66534583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:66534583G>A	ENST00000276569.3	-	3	434	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ARMC1_ENST00000458464.2_Missense_Mutation_p.S25L|ARMC1_ENST00000523384.1_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	64					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			GCCAAGTATCGAAGAGCCTAC	0.353000													7	74					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561393	69561393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:69561393G>A	ENST00000261858.2	+	5	1892	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D	GLCE_ENST00000559420.2_Missense_Mutation_p.G491D	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	555					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGACACTGGCTCAGGAACC	0.488000													7	55					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215259970	215259970	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:215259970C>T	ENST00000444842.2	+	2	456	c.306C>T	c.(304-306)ttC>ttT	p.F102F	KCNK2_ENST00000391895.2_Silent_p.F98F|KCNK2_ENST00000391894.2_Silent_p.F87F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	102							outward rectifier potassium channel activity	p.F87L(1)|p.F102L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	AGCAAACATTCATATCCCAAC	0.463000													8	77					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519721	58519721	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58519721C>T	ENST00000302819.5	-	4	766	c.475_splice	c.e4+1	p.G159_splice	ACOX2_ENST00000459701.2_Splice_Site_p.G159_splice	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	159					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		cctAGCTCACCATGTCCCAAC	0.522000													7	65					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184233505	184233505	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184233505C>T	ENST00000403733.3	+	22	3595	c.3396C>T	c.(3394-3396)tcC>tcT	p.S1132S	WWC2_ENST00000504005.1_Silent_p.S814S|WWC2_ENST00000508747.1_Silent_p.S260S|WWC2_ENST00000513834.1_Silent_p.S1083S|WWC2_ENST00000448232.2_Silent_p.S1156S	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1132										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGAACAGTCCAAAGAAGAGC	0.478000													6	100					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527003	43527003	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43527003C>T	ENST00000220420.5	-	11	1846	c.1839G>A	c.(1837-1839)aaG>aaA	p.K613K	TGM5_ENST00000349114.4_Silent_p.K531K	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	613					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGTGATGATCTTGTTCACCA	0.517000													6	84					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317531	1317531	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1317531C>T	ENST00000381567.3	-	5	533	c.534G>A	c.(532-534)gaG>gaA	p.E178E	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	178	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTAACACTTCTCGGCATCCA	0.498000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								11	50					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525813	248525813	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248525813A>T	ENST00000366475.1	+	1	931	c.931A>T	c.(931-933)Acc>Tcc	p.T311S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TGTCTTCTATACCATCCTCAC	0.478000													10	44					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120235	31120235	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31120235G>A	ENST00000304166.4	+	5	562	c.273G>A	c.(271-273)gaG>gaA	p.E91E	ADCYAP1R1_ENST00000409489.1_Silent_p.E91E|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000396211.2_Silent_p.E91E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	91					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGTCTGGGAGACCGAAACCA	0.552000													9	48					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932086	31932086	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31932086C>T	ENST00000375394.2	+	17	2051	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	SKIV2L_ENST00000544581.1_Silent_p.I453I	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	646	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCAAGGAGATCGTGGAGATGC	0.617000													20	259					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102476784	102476784	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102476784C>T	ENST00000360184.4	+	31	6557	c.6393C>T	c.(6391-6393)ctC>ctT	p.L2131L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2131					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGAAAATCTCCCTGAACAAG	0.388000													3	13					0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197004445	197004445	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197004445G>A	ENST00000263955.4	-	7	1021	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK17B_ENST00000409228.1_Silent_p.L245L	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	245	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.L245L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GAGAAATATTGAGGTATGTTT	0.348000													9	42					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060858	139060858	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:139060858C>T	ENST00000302517.3	+	2	1464	c.750C>T	c.(748-750)gcC>gcT	p.A250A	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.A250A	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	250					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGCTGGCCTCTGCCATCA	0.647000													4	71					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236644	33236644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33236644C>T	ENST00000401073.2	+	6	1934	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P574S|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P563S	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	563	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCTTCGCTCCCCTGGGGCCTC	0.652000													7	103					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208816	13208816	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:13208816C>T	ENST00000197268.8	+	2	489	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	123						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTGTGCTTTCCTGATCCCCT	0.577000													4	36					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306549	3306549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3306549C>T	ENST00000219596.1	-	1	78	c.39G>A	c.(37-39)ctG>ctA	p.L13L	MEFV_ENST00000536379.1_Silent_p.L13L|MEFV_ENST00000339854.4_Silent_p.L13L|MEFV_ENST00000541159.1_Silent_p.L13L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	13	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCAGCTCCTCCAGGGTGGACA	0.567000													9	149					0	0	1	0	0
HCAR1	27198	broad.mit.edu	37	12	123213939	123213939	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123213939C>T	ENST00000432564.1	-	1	1190	c.948G>A	c.(946-948)tcG>tcA	p.S316S	HCAR1_ENST00000436083.2_Silent_p.S316S|HCAR1_ENST00000356987.2_Silent_p.S316S	NM_032554.3	NP_115943.1	Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	316					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GACCGAGGTTCGAAATTGGCA	0.488000													13	115					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156757823	156757823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156757823C>T	ENST00000347377.6	+	20	2661	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	CYFIP2_ENST00000435847.2_Missense_Mutation_p.R443C|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R769C|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R548C|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R744C|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R29C|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R669C|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R718C	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	769					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCGTCCAATCGCTATGAAAC	0.493000													26	152					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122439469	122439469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122439469G>A	ENST00000288912.4	+	21	4156	c.3302G>A	c.(3301-3303)gGa>gAa	p.G1101E		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1101							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AATCCCGAGGGATGGAAATCC	0.498000													7	68					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161587427	161587427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161587427C>T	ENST00000320285.4	-	3	413	c.201G>A	c.(199-201)tgG>tgA	p.W67*	AGPAT4_ENST00000366906.5_Nonsense_Mutation_p.W5*|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_Nonsense_Mutation_p.W67*|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Nonsense_Mutation_p.W67*	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	67					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TGCCCGACCACCACTCCAGCA	0.547000													4	46					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671347	7671347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7671347C>T	ENST00000572933.1	+	23	5265	c.3805C>T	c.(3805-3807)Cgt>Tgt	p.R1269C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1269C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1269	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGGCTGTTTCGTCGCCTCAC	0.582000													4	50					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3526983	3526983	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3526983C>T	ENST00000441788.2	+	6	629	c.393C>T	c.(391-393)tcC>tcT	p.S131S	FZR1_ENST00000395095.3_Silent_p.S131S|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	131					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGTATTCCCTTAGCACCA	0.657000													7	61					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140034155	140034155	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140034155C>T	ENST00000371561.3	+	1	1314	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	GRIN1_ENST00000371550.4_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000371546.4_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000371553.3_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000350902.5_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000371555.4_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000371559.4_Nonsense_Mutation_p.Q73*|GRIN1_ENST00000371560.3_Nonsense_Mutation_p.Q73*	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	73					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CAACGCCATCCAGATGGCTCT	0.647000													5	64					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752575	156752575	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156752575C>T	ENST00000347377.6	+	17	2342	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F	CYFIP2_ENST00000435847.2_Silent_p.F336F|CYFIP2_ENST00000318218.6_Silent_p.F662F|CYFIP2_ENST00000522463.1_Silent_p.F441F|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.F637F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Silent_p.F562F|CYFIP2_ENST00000521420.1_Silent_p.F611F	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	662					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAATCCAGTTCCCCATCGAGA	0.527000													39	195					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846826	140846826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140846826C>T	ENST00000371372.1	+	7	1212	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	CACNA1B_ENST00000371357.1_Missense_Mutation_p.S356L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.S356L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.S356L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.S356L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	356					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCGTGCTCTCGGGGTGAGAG	0.612000													4	42					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113474224	113474224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:113474224C>T	ENST00000487903.1	+	8	773	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ATP11A_ENST00000375630.2_Missense_Mutation_p.R229C|ATP11A_ENST00000375645.3_Missense_Mutation_p.R229C|ATP11A_ENST00000283558.8_Missense_Mutation_p.R229C			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	229					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTTCGTGGGTCGCATCAACGT	0.622000													7	39					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43662001	43662001	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43662001G>A	ENST00000396976.2	-	1	245	c.111C>T	c.(109-111)agC>agT	p.S37S	ZSCAN29_ENST00000568898.1_Silent_p.S36S|TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000396972.1_Silent_p.S37S|ZSCAN29_ENST00000562072.1_Silent_p.S36S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	37	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCCAGAGTTGGCTGAAAGCCT	0.547000													6	65					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:63990302C>T	ENST00000370657.4	-	4	1187	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	385					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000													8	72					0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36205895	36205895	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36205895A>C	ENST00000405409.2	-	2	552	c.184T>G	c.(184-186)Tac>Gac	p.Y62D	RBFOX2_ENST00000438146.2_Missense_Mutation_p.Y132D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.Y62D|RBFOX2_ENST00000359369.4_Missense_Mutation_p.Y42D|RBFOX2_ENST00000416721.2_Missense_Mutation_p.Y62D|RBFOX2_ENST00000397303.2_Missense_Mutation_p.Y42D|RBFOX2_ENST00000449924.2_Missense_Mutation_p.Y62D|RBFOX2_ENST00000262829.7_Missense_Mutation_p.Y62D	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	72					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GTACTTCCGTAGAGTGTCAGG	0.542000													38	133					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158492715	158492715	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:158492715C>T	ENST00000355585.4	+	15	2097	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	SYNJ2_ENST00000367122.2_Silent_p.F674F|SYNJ2_ENST00000367121.3_Silent_p.F674F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	674							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCTTCCAGTTCCACAGCACCA	0.587000													6	73					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70227929	70227929	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:70227929G>T	ENST00000342771.4	+	7	1137	c.816G>T	c.(814-816)tcG>tcT	p.S272S	AUTS2_ENST00000406775.2_Silent_p.S272S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	272										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAAGATATCGGGTCTAGAGA	0.542000													5	155					1	1	1	1	0
SEMA4D	10507	broad.mit.edu	37	9	91994326	91994326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:91994326C>T	ENST00000450295.1	-	16	2658	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	SEMA4D_ENST00000438547.2_Missense_Mutation_p.E628K|SEMA4D_ENST00000356444.2_Missense_Mutation_p.E628K|SEMA4D_ENST00000422704.2_Missense_Mutation_p.E628K|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	628	Ig-like C2-type.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TTAACCCTCTCCTCTGACAGG	0.532000													49	256					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161471000	161471000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161471000C>T	ENST00000392142.4	+	3	1844	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R566C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R566C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R566C	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	566			R -> H (in dbSNP:rs55765351).		activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGAACGATCGTCCAGTGGA	0.358000													5	24					0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253682	32253682	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:32253682G>A	ENST00000332378.4	-	1	192	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	54						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTTGACAGTGGTCCAGGAGCC	0.577000													10	26					0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88584106	88584106	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88584106C>T	ENST00000339673.6	+	6	1275	c.1176C>T	c.(1174-1176)ctC>ctT	p.L392L	DMP1_ENST00000282479.7_Silent_p.L376L|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	392					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CGCACACACTCTCCCACTCAA	0.542000													10	77					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984364	98984364	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98984364A>G	ENST00000451682.1	+	5	430	c.121A>G	c.(121-123)Aaa>Gaa	p.K41E	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.K41E|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	41					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCGGTGCCAAATGGACCAA	0.572000													17	99					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353692	45353692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45353692C>T	ENST00000359271.2	+	2	267	c.17C>T	c.(16-18)cCt>cTt	p.P6L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	6						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CACTCCCCACCTGTCCTGCCT	0.512000													13	79					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27745392	27745392	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27745392G>A	ENST00000264717.2	+	18	1701	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q	GCKR_ENST00000424318.2_Silent_p.Q356Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	546					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)					ACTTTCCCCAGCCACTGTCAG	0.532000													9	116					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168004	110168004	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110168004C>T	ENST00000256578.3	+	2	693	c.333C>T	c.(331-333)ttC>ttT	p.F111F	AMPD2_ENST00000528667.1_Silent_p.F111F|AMPD2_ENST00000528454.1_5'UTR|AMPD2_ENST00000358729.4_Intron|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Silent_p.F30F	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	111					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCAAGCACTTCCCGCTCGACC	0.677000													27	94					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	327146	327146	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:327146A>T	ENST00000264819.4	-	5	490	c.480T>A	c.(478-480)ccT>ccA	p.P160P		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCCGGTTAGGGAAGAGGT	0.597000													23	105					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078726	21078726	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21078726C>T	ENST00000261383.3	-	24	3395	c.3396G>A	c.(3394-3396)agG>agA	p.R1132R	DNAH3_ENST00000415178.1_Silent_p.R1132R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1132	Stem (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)		CCACCAGAATCCTGTTATCTT	0.453000													6	33					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873709	36873709	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36873709G>A	ENST00000429976.2	-	21	7480	c.7233C>T	c.(7231-7233)ctC>ctT	p.L2411L	TRANK1_ENST00000428977.2_Silent_p.L1861L|TRANK1_ENST00000301807.6_Silent_p.L1861L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2411					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGAACTCCAGGAGGGCTACTG	0.507000													7	110					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558948	36558948	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36558948C>T	ENST00000373178.4	+	6	1083	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	351						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				AGACAGACATCCTGGCCCAAA	0.582000													5	119					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417558	44417558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44417558G>A	ENST00000269973.5	-	10	3120	c.2030C>T	c.(2029-2031)tCa>tTa	p.S677L	ZNF45_ENST00000589703.1_Missense_Mutation_p.S677L|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	677					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTTCCTGTGTGAATCCTCTGA	0.388000													6	19					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79910844	79910844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79910844C>T	ENST00000409678.3	-	11	1867	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	495						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGCCTAGCTTCCGTTGCTCAG	0.672000													9	137					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403901	79403901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:79403901G>A	ENST00000370742.3	-	5	523	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	154					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTTGGTGAAAGATCTGTCACA	0.338000													7	17					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98495396	98495396	+	Silent	SNP	C	C	A	rs150341749		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98495396C>A	ENST00000359863.4	+	8	749	c.540C>A	c.(538-540)ccC>ccA	p.P180P	TRRAP_ENST00000355540.3_Silent_p.P180P|TRRAP_ENST00000446306.3_Silent_p.P180P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	180					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGTGATCCCCGAGAACACAG	0.408000													4	65					1	1	1	1	0
SLAMF1	6504	broad.mit.edu	37	1	160589593	160589593	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160589593C>T	ENST00000302035.6	-	5	1186	c.837G>A	c.(835-837)acG>acA	p.T279T	SLAMF1_ENST00000235739.5_Silent_p.T249T|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Silent_p.T279T	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	279					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGCATAGATCGTAAGGCTTT	0.443000													8	28					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773327	118773327	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118773327G>A	ENST00000334801.3	-	6	2089	c.1125C>T	c.(1123-1125)ccC>ccT	p.P375P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	375	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCAGGGCCGGGGGCACTGC	0.692000													5	51					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706323	30706323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30706323C>T	ENST00000256246.2	-	1	285	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	71										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCAAAACCTCATTTAAGCCT	0.408000													4	42					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458528	142458528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142458528G>A	ENST00000486171.1	+	2	180	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PRSS1_ENST00000311737.7_Missense_Mutation_p.E55K			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	55	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCTCATCAACGAACAGTGGGT	0.572000													18	40					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90648040	90648040	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:90648040G>A	ENST00000257749.4	-	8	2573	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	BACH2_ENST00000537989.1_Silent_p.I622I|BACH2_ENST00000343122.3_Silent_p.I622I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	622						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAAGATCTGTGATTTGATCTA	0.388000													5	37					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046156	201046156	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201046156G>A	ENST00000362061.3	-	12	1945	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	CACNA1S_ENST00000367338.3_Silent_p.F573F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	573					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGGAGGGCGAAGATGACGA	0.567000													4	64					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61917660	61917660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:61917660G>A	ENST00000332981.5	+	6	1188	c.803G>A	c.(802-804)gGa>gAa	p.G268E	PRKCH_ENST00000555082.1_Missense_Mutation_p.G107E	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	268					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGCTCTGGGGAATAATGCGA	0.483000													6	40					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553482	135553482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135553482C>T	ENST00000372146.4	+	2	1040	c.476C>T	c.(475-477)cCa>cTa	p.P159L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	159					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAGGCTTTACCACCAATGAGA	0.547000													8	52					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9434098G>A	ENST00000378501.2	+	29	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_ENST00000378493.1_Missense_Mutation_p.M983I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M983I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.M995I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M995I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M983I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	983					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAGGCAATGAAGAAGAAGG	0.388000													4	7					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26965597	26965597	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26965597G>A	ENST00000528896.2	-	12	1367	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	KIAA0100_ENST00000389003.3_Silent_p.S288S|KIAA0100_ENST00000544884.1_Silent_p.S288S	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	431						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAAGTTGAATGGAAATGTTGA	0.433000													5	93					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597000													16	179					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12131132	12131132	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12131132C>T	ENST00000379388.2	+	6	6674	c.6342C>T	c.(6340-6342)cgC>cgT	p.R2114R	HIVEP1_ENST00000541134.1_Silent_p.R13R	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2114					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGATGTCCGCCCCTACCACT	0.403000													6	32					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41573208	41573208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41573208G>A	ENST00000396942.1	-	14	1647	c.1564C>T	c.(1564-1566)Ctt>Ttt	p.L522F	ANK1_ENST00000379758.2_Missense_Mutation_p.L522F|ANK1_ENST00000396945.1_Missense_Mutation_p.L522F|ANK1_ENST00000289734.7_Missense_Mutation_p.L522F|ANK1_ENST00000347528.4_Missense_Mutation_p.L522F|ANK1_ENST00000352337.4_Missense_Mutation_p.L522F|ANK1_ENST00000265709.8_Missense_Mutation_p.L555F			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	522	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTCCAGAAGGGCCAGGACT	0.622000													6	56					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520712	33520712	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33520712C>T	ENST00000297307.5	-	1	700	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	205						integral to membrane											CCAGAAGCCTCAGGGACAGCG	0.627000													28	110					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65268514	65268514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65268514C>T	ENST00000389722.3	-	5	658	c.605G>A	c.(604-606)tGg>tAg	p.W202*	SPTB_ENST00000556626.1_Nonsense_Mutation_p.W202*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.W202*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.W202*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.W202*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	202	Actin-binding.|CH 2.		W -> R (in HS; Kissimmee).		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)		GCCATCCTTCCAGCTGGAGGT	0.478000											OREG0022735	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	125					0	0	1	0	0
SLC25A45	283130	broad.mit.edu	37	11	65144347	65144347	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65144347G>A	ENST00000417511.2	-	9	1548	c.414C>T	c.(412-414)atC>atT	p.I138I	SLC25A45_ENST00000527174.1_Silent_p.I180I|SLC25A45_ENST00000360662.3_Silent_p.I156I|SLC25A45_ENST00000398802.1_Silent_p.I180I|SLC25A45_ENST00000534028.1_Silent_p.I156I|SLC25A45_ENST00000377152.2_Silent_p.I76I|SLC25A45_ENST00000294187.6_Silent_p.I138I|SLC25A45_ENST00000526432.1_Silent_p.I118I	NM_001278251.1	NP_001265180.1	Q8N413	S2545_HUMAN	solute carrier family 25, member 45	180					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						TGATGAAGTAGATCCCCACCG	0.632000													14	141					0	0	1	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471463	106471463	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106471463C>T	ENST00000390595.2	-	0	175																											GAAGGTGTATCCAGAAGCCTT	0.557000													13	81					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416581	9416581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9416581C>T	ENST00000328089.6	+	2	972	c.631C>T	c.(631-633)Cct>Tct	p.P211S	SPSB1_ENST00000357898.3_Missense_Mutation_p.P211S|SPSB1_ENST00000377399.2_Missense_Mutation_p.P211S	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	211	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AAAACTGTATCCTGTAGTGAG	0.552000													17	123					0	0	1	0	0
NT5C3A	51251	broad.mit.edu	37	7	33059300	33059300	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:33059300A>T	ENST00000396152.2	-	7	677	c.375T>A	c.(373-375)gcT>gcA	p.A125A	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Silent_p.A125A|NT5C3A_ENST00000409467.1_Silent_p.A113A|NT5C3A_ENST00000242210.7_Silent_p.A164A|NT5C3A_ENST00000405342.1_Silent_p.A125A|NT5C3A_ENST00000381626.2_Silent_p.A113A	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		CTTTTGGTAAAGCTTGCTGAA	0.313000													5	59					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108937	58108937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58108937G>A	ENST00000357272.4	+	21	3409	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	FLNB_ENST00000348383.5_Missense_Mutation_p.E1082K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1082K|FLNB_ENST00000493452.1_Missense_Mutation_p.E913K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1082K|FLNB_ENST00000419752.2_Missense_Mutation_p.E913K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1082K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1082K			O75369	FLNB_HUMAN	filamin B, beta	1082					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGTCCGTGCGAGGCCAAAAT	0.567000													5	105					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48808502	48808502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:48808502G>A	ENST00000316623.5	-	11	1660	c.1205C>T	c.(1204-1206)cCt>cTt	p.P402L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	402	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGGTGGGGGAGGATATTCTGG	0.502000													4	33					0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	665975	665975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:665975G>A	ENST00000262109.7	-	2	132	c.55C>T	c.(55-57)Cct>Tct	p.P19S	ERICH1_ENST00000522706.1_Intron|ERICH1_ENST00000518277.1_5'UTR	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	19										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GGAACAGGAGGAAAAAGTCTC	0.458000													9	82					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909254	123909254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123909254G>A	ENST00000330487.5	-	1	463	c.455C>T	c.(454-456)tCt>tTt	p.S152F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGTGCAGAGAGCCACTGAG	0.562000													11	105					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11796202	11796202	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11796202G>A	ENST00000344893.3	+	0	2201					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						AGTTCCATTCGAAAACATGCA	0.353000													8	9					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5125427	5125427	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:5125427C>T	ENST00000588623.1	+	5	1196	c.96C>T	c.(94-96)ttC>ttT	p.F32F	ALG1_ENST00000544428.1_Silent_p.F32F|ALG1_ENST00000262374.5_Silent_p.F143F			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	143					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCTGCTGGTTCGTGGGCTGCC	0.542000													16	140					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679739	88679739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:88679739C>T	ENST00000394480.1	-	8	1045	c.724G>A	c.(724-726)Gac>Aac	p.D242N	NTRK3_ENST00000542733.2_Missense_Mutation_p.D144N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D242N|NTRK3_ENST00000540489.2_Missense_Mutation_p.D242N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D242N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D242N|NTRK3_ENST00000360948.2_Missense_Mutation_p.D242N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D242N|NTRK3_ENST00000317501.3_Missense_Mutation_p.D242N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	242	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTATCCAGTCCACATCAGGA	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			4	21					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2120980	2120980	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2120980G>A	ENST00000355272.6	-	14	1568	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	AP3D1_ENST00000356926.4_Silent_p.F363F|AP3D1_ENST00000345016.5_Silent_p.F454F|AP3D1_ENST00000350812.6_Silent_p.F285F	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	454					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACACGGCGAACTTGCGGA	0.662000													14	54					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39775688	39775688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39775688G>A	ENST00000518237.1	+	3	904	c.265G>A	c.(265-267)Gca>Aca	p.A89T	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.A89T|RP11-44K6.4_ENST00000522970.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	89					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CATCACCATGGCATATGTGTG	0.413000													6	90					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281977	71281977	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:71281977G>A	ENST00000335793.3	-	2	1057	c.663C>T	c.(661-663)gtC>gtT	p.V221V	CDC42EP4_ENST00000439510.2_Silent_p.V151V|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	221					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGATGCTGAGGACGTCACCCA	0.647000													4	94					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755687	91755687	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91755687C>T	ENST00000389857.6	-	25	4289	c.4202_splice	c.e25-1	p.K1401_splice		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1401					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGTGGTTCTTCCTGGTTAGAA	0.527000													33	181					0	0	1	0	0
RPL6	6128	broad.mit.edu	37	12	112843768	112843768	+	Silent	SNP	G	G	A	rs150735821	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112843768G>A	ENST00000424576.2	-	6	788	c.603C>T	c.(601-603)atC>atT	p.I201I	RPL6_ENST00000202773.9_Silent_p.I201I	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	201				LNRVPLRRTHQKFVIATSTKIDISN -> SIEFLYEEHTRN LSLPLQPKSISAI (in Ref. 5; AAB30819).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGCTGATATCGATTTTGGTTG	0.423000													4	42					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476108	21476108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:21476108G>A	ENST00000356929.3	-	4	1857	c.1660C>T	c.(1660-1662)Cat>Tat	p.H554Y		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCTTTGGTATGAATTCTCTTA	0.318000													4	31					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047912	86047912	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86047912G>A	ENST00000451137.2	+	3	803	c.579G>A	c.(577-579)acG>acA	p.T193T		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	193					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGAGTTGACGAGAAACAATG	0.527000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	106					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13136080	13136080	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13136080C>T	ENST00000358552.3	+	1	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F	NFIX_ENST00000588228.1_Silent_p.F44F|NFIX_ENST00000397661.2_Silent_p.F91F|NFIX_ENST00000587760.1_Silent_p.F83F|NFIX_ENST00000585575.1_Silent_p.F83F|NFIX_ENST00000592199.1_Silent_p.F91F|NFIX_ENST00000360105.4_Silent_p.F94F|NFIX_ENST00000587260.1_Silent_p.F90F			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	91					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCGAGGACTTCGTGCTGACCA	0.652000													7	39					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73717620	73717620	+	Silent	SNP	C	C	T	rs150041669		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73717620C>T	ENST00000427855.1	+	7	573	c.471C>T	c.(469-471)gtC>gtT	p.V157V	PAPLN_ENST00000555445.1_Silent_p.V157V|PAPLN_ENST00000554301.1_Silent_p.V157V|PAPLN_ENST00000340738.5_Silent_p.V157V|PAPLN_ENST00000381166.3_Silent_p.V157V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	157						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CACAGGTTGTCGGCTGTGATC	0.657000													4	46					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27669002	27669002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27669002G>A	ENST00000265395.2	-	4	678	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	158					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CCAGAAACAGGGGCATCCATG	0.363000													6	85					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1481952	1481952	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1481952G>A	ENST00000297508.7	-	7	1762	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	MICALL2_ENST00000405088.4_Silent_p.S317S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	529						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGGCAACGCGGATGCCTGAG	0.672000													10	119					0	0	1	0	0
PXT1	222659	broad.mit.edu	37	6	36359601	36359601	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36359601G>A	ENST00000454782.2	-	5	834	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	34						peroxisome											CTCTTCTAAAGAAAAAGAAGA	0.343000													9	84					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90318032	90318032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90318032C>T	ENST00000469640.2	+	26	3410	c.3035C>T	c.(3034-3036)tCg>tTg	p.S1012L	DAPK1_ENST00000491893.1_Missense_Mutation_p.S921L|DAPK1_ENST00000472284.1_Missense_Mutation_p.S987L|DAPK1_ENST00000408954.3_Missense_Mutation_p.S987L|DAPK1_ENST00000358077.5_Missense_Mutation_p.S987L			P53355	DAPK1_HUMAN	death-associated protein kinase 1	987					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CAGCTGATGTCGCTGCAGCAG	0.597000									Chronic Lymphocytic Leukemia, Familial Clustering of				5	62					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353213	121353213	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121353213C>T	ENST00000314583.3	-	10	835	c.744G>A	c.(742-744)gaG>gaA	p.E248E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.E211E	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	248					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCTTCCTCTTCTCCTCAGCCA	0.552000													7	50					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124598641	124598641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124598641G>A	ENST00000368904.1	-	5	1289	c.340C>T	c.(340-342)Cct>Tct	p.P114S	CUZD1_ENST00000392790.1_Missense_Mutation_p.P114S|CUZD1_ENST00000545804.1_Missense_Mutation_p.P114S			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	114	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TCAAATACAGGAACATAGTCG	0.408000													8	90					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48573793	48573793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48573793G>A	ENST00000232375.3	-	8	848	c.736C>T	c.(736-738)Cac>Tac	p.H246Y	PFKFB4_ENST00000383734.2_Missense_Mutation_p.H246Y|PFKFB4_ENST00000416568.1_Missense_Mutation_p.H246Y|PFKFB4_ENST00000541519.1_Missense_Mutation_p.H212Y|PFKFB4_ENST00000536104.1_Missense_Mutation_p.H235Y|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	246	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGGGTCACGTGGATGTTCATG	0.607000													12	142					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998949	83998949	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83998949C>T	ENST00000343939.2	+	7	1403	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	OSGIN1_ENST00000361711.3_Silent_p.I257I|OSGIN1_ENST00000393306.1_Silent_p.I257I			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	340					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGCTGGGCATCCCCGGGGAGG	0.697000													4	55					0	0	1	0	0
GABARAP	11337	broad.mit.edu	37	17	7144739	7144739	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7144739G>A	ENST00000302386.5	-	3	649	c.210C>T	c.(208-210)ctC>ctT	p.L70L	CTD-2545G14.7_ENST00000570760.2_3'UTR|GABARAP_ENST00000577035.1_5'UTR|GABARAP_ENST00000571129.1_5'UTR|GABARAP_ENST00000573928.1_Silent_p.L70L|GABARAP_ENST00000571253.1_5'UTR	NM_007278.1	NP_009209.1	O95166	GBRAP_HUMAN	GABA(A) receptor-associated protein	70	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						CCTCAGCTCGGAGATGAATTC	0.463000													25	183					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75239252	75239252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75239252G>A	ENST00000360663.5	-	2	220	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	PPP3CB_ENST00000342558.3_Missense_Mutation_p.R37C|PPP3CB_ENST00000394822.2_Missense_Mutation_p.R37C|PPP3CB_ENST00000394829.2_Missense_Mutation_p.R37C|PPP3CB_ENST00000394828.2_Missense_Mutation_p.R37C|PPP3CB_ENST00000545874.1_5'UTR			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	37	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GATGTCAAGCGATGTGTTGGG	0.358000													7	31					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6061852	6061852	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6061852G>A	ENST00000379959.3	-	5	809	c.636C>T	c.(634-636)tcC>tcT	p.S212S	IL2RA_ENST00000256876.6_Silent_p.S203S|IL2RA_ENST00000379954.1_Silent_p.S140S	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	212					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGACGAGGCAGGAAGTCTCAC	0.577000													12	53					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047703	42047703	+	Silent	SNP	G	G	A	rs138905658	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42047703G>A	ENST00000372584.1	-	3	3780	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	HIVEP3_ENST00000372583.1_Silent_p.F922F|HIVEP3_ENST00000429157.2_Silent_p.F922F|HIVEP3_ENST00000247584.5_Silent_p.F922F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	922	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGGACTCGAAGCTGGACT	0.592000													26	145					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909211	65909211	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65909211C>T	ENST00000321892.4	+	13	5650	c.5589C>T	c.(5587-5589)atC>atT	p.I1863I	BPTF_ENST00000424123.3_Silent_p.I1724I|BPTF_ENST00000335221.5_Silent_p.I1863I|BPTF_ENST00000306378.6_Silent_p.I1737I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1863					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGAGGAATCCGAGAGGTCC	0.408000													12	84					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186158974	186158974	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186158974C>T	ENST00000271588.4	+	107	17101	c.16872C>T	c.(16870-16872)ttC>ttT	p.F5624F	HMCN1_ENST00000367492.2_Silent_p.F5507F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5624					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGACCACATTCATAGTTTATA	0.458000													4	12					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67067323	67067323	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67067323C>T	ENST00000447274.2	+	9	1820	c.645C>T	c.(643-645)ttC>ttT	p.F215F	ANKRD13D_ENST00000511455.2_Silent_p.F302F|ANKRD13D_ENST00000308440.6_Silent_p.F215F|ANKRD13D_ENST00000514166.1_Silent_p.F215F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	215										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TCCAGTCCTTCCTGGGGATGG	0.706000													11	56					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659624	39659624	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39659624T>C	ENST00000246635.3	-	3	696	c.650A>G	c.(649-651)gAg>gGg	p.E217G	KRT13_ENST00000587544.1_Missense_Mutation_p.E217G|KRT13_ENST00000336861.3_Missense_Mutation_p.E217G	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	217	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CAGAGTGAGCTCATCCAGCAC	0.502000													5	89					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87680271	87680271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87680271G>A	ENST00000320005.5	-	5	666	c.619C>T	c.(619-621)Cca>Tca	p.P207S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	207					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						ATGCTGTTTGGAAGTTTAATT	0.388000													5	65					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87410599	87410599	+	Silent	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87410599T>A	ENST00000517970.1	+	6	670	c.363T>A	c.(361-363)ctT>ctA	p.L121L	WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Silent_p.L121L|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	121					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AATTAAAACTTTCCTTGGAAA	0.328000													4	34					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039742	248039742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248039742C>T	ENST00000366481.3	+	6	1460	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	471						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AATTGGGCATCCAGGGATCAT	0.463000													7	50					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683505	71683505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:71683505G>A	ENST00000393524.2	-	17	3792	c.3059C>T	c.(3058-3060)tCa>tTa	p.S1020L	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000568954.1_Missense_Mutation_p.S1087L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.S1122L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.S1087L|PHLPP2_ENST00000360429.3_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1087	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCTCACCTCTGAGGTGGACAT	0.577000													6	80					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442827	39442827	+	Missense_Mutation	SNP	C	C	T	rs150907859	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39442827C>T	ENST00000265707.5	+	2	133	c.88C>T	c.(88-90)Cca>Tca	p.P30S	ADAM18_ENST00000520772.1_Missense_Mutation_p.P30S|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.P30S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	30					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGTCACAGTTCCACGGAAGAT	0.343000													4	19					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29611517	29611517	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29611517T>C	ENST00000334018.6	+	3	405	c.215_splice	c.e3-1	p.Y73_splice	EMID1_ENST00000404820.3_Splice_Site_p.Y73_splice|EMID1_ENST00000404755.3_Splice_Site_p.Y73_splice	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	73	EMI.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTCTTTCAGCTACAGAACTGT	0.587000													12	59					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329121	3329121	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3329121C>A	ENST00000378398.3	+	10	2445	c.2363C>A	c.(2362-2364)cCc>cAc	p.P788H	PRDM16_ENST00000378391.2_Missense_Mutation_p.P787H|PRDM16_ENST00000511072.1_Missense_Mutation_p.P788H|PRDM16_ENST00000442529.2_Missense_Mutation_p.P787H|PRDM16_ENST00000441472.2_Missense_Mutation_p.P787H|PRDM16_ENST00000514189.1_Missense_Mutation_p.P788H|PRDM16_ENST00000270722.5_Missense_Mutation_p.P787H|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	787	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCATCCTGCCCATGCCCAAG	0.711000			T	EVI1	"""MDS, AML"""								13	37					3.27435e-08	3.32699e-08	1	1	0
CCDC113	29070	broad.mit.edu	37	16	58288049	58288049	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:58288049C>T	ENST00000219299.4	+	3	455	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	126						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GGAACGCGACCTGCAGCATCA	0.557000													7	78					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882375	167882375	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167882375C>T	ENST00000265293.4	+	19	3175	c.2673C>T	c.(2671-2673)acC>acT	p.T891T	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.T891T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	891	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACAAAGAGACCAACACGGAGA	0.612000													7	96					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24433449	24433449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:24433449C>T	ENST00000230036.1	-	24	2512	c.2402G>A	c.(2401-2403)gGg>gAg	p.G801E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	801						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GAGGGAGCTCCCAAACCTTGA	0.448000													8	85					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469982	72469982	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72469982C>T	ENST00000360141.3	+	2	636	c.348C>T	c.(346-348)ccC>ccT	p.P116P	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	116	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCATGATCCCGTTGTCGAGG	0.562000													13	48					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12980016	12980016	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12980016C>T	ENST00000251472.4	+	22	2949	c.2910C>T	c.(2908-2910)atC>atT	p.I970I		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	970	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCATCACCATCCAGCGCTCGG	0.582000													7	56					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19345875	19345875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19345875C>T	ENST00000252575.5	+	10	3263	c.3220C>T	c.(3220-3222)Ccc>Tcc	p.P1074S	NCAN_ENST00000538881.1_Missense_Mutation_p.P525S	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1074	EGF-like 2; calcium-binding (Potential).				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCTTTGCCTCCCCAGCTATGG	0.542000													29	120					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093110	160093110	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160093110C>T	ENST00000361216.3	+	4	374	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.F95F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCT	0.602000													27	191					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702250	15702250	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15702250G>A	ENST00000396368.3	-	21	4286	c.4080C>T	c.(4078-4080)ctC>ctT	p.L1360L	KIAA0430_ENST00000548025.1_Silent_p.L1357L|KIAA0430_ENST00000551742.1_Silent_p.L1360L|KIAA0430_ENST00000540441.2_Silent_p.L1195L|KIAA0430_ENST00000344181.3_Silent_p.L962L|KIAA0430_ENST00000602337.1_Silent_p.L1357L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1359						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ATTCTGTAAGGAGATCTGTCA	0.423000													5	39					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115254	57115254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57115254G>A	ENST00000439986.4	-	7	773	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CCBE1_ENST00000398179.2_Silent_p.F21F	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	246	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAGGTCCTGGAAGGTAGGTG	0.577000													6	80					0	0	1	0	0
SLC25A26	115286	broad.mit.edu	37	3	66428150	66428150	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:66428150C>T	ENST00000354883.6	+	11	1472	c.744C>T	c.(742-744)atC>atT	p.I248I	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.5_Silent_p.I160I			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	248						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TGGCAGCCATCAGTCTGGGAG	0.443000													11	148					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54133761	54133761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:54133761G>A	ENST00000404125.1	-	26	2972	c.2917C>T	c.(2917-2919)Cgt>Tgt	p.R973C	PSME4_ENST00000421748.2_Missense_Mutation_p.R117C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	973					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTAGATAAACGAAGAAGATCT	0.363000													5	47					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51065086	51065086	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51065086G>A	ENST00000547307.1	-	4	1186	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	ARSA_ENST00000395621.3_Silent_p.L263L|ARSA_ENST00000216124.5_Silent_p.L263L|ARSA_ENST00000356098.5_Silent_p.L263L|ARSA_ENST00000547805.1_Silent_p.L261L|ARSA_ENST00000453344.2_Silent_p.L177L|ARSA_ENST00000395619.3_Silent_p.L263L			P15289	ARSA_HUMAN	arylsulfatase A	261						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCTGTCATCAGGGTCCCCACA	0.622000													4	42					0	0	1	0	0
RDH14	57665	broad.mit.edu	37	2	18736791	18736791	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18736791A>G	ENST00000381249.3	-	2	784	c.677T>C	c.(676-678)cTt>cCt	p.L226P	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CCTGGTAAAAAGAATGTTAGC	0.413000													6	65					0	0	1	0	0
NDRG1	10397	broad.mit.edu	37	8	134258871	134258871	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134258871G>A	ENST00000414097.2	-	13	1710	c.843C>T	c.(841-843)acC>acT	p.T281T	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000323851.7_Silent_p.T281T|NDRG1_ENST00000537882.1_Silent_p.T200T|NDRG1_ENST00000354944.5_Silent_p.T211T|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000518176.1_Silent_p.T28T|NDRG1_ENST00000522476.1_Silent_p.T215T	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	281					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGAGGAGAGTGGTCTTTGTTG	0.438000			T	ERG	prostate								25	131					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220172257	220172257	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220172257C>T	ENST00000295718.2	-	3	429	c.189G>A	c.(187-189)caG>caA	p.Q63Q	PTPRN_ENST00000409251.3_Silent_p.Q63Q|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	63					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCACTCCCACCTGGCACTGCC	0.552000													20	73					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080169	23080169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23080169C>T	ENST00000219689.7	-	16	3256	c.3257G>A	c.(3256-3258)cGg>cAg	p.R1086Q	USP31_ENST00000567975.1_Missense_Mutation_p.R379Q	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1086	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGATGAATGCCGTCCACTGCC	0.547000													11	101					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932101	31932101	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31932101C>T	ENST00000375394.2	+	17	2066	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	SKIV2L_ENST00000544581.1_Silent_p.F458F	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	651	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGATGCTCTTCAGCCGTGGCC	0.607000													15	244					0	0	1	0	0
ISCA2	122961	broad.mit.edu	37	14	74961580	74961580	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74961580C>T	ENST00000556816.1	+	4	397	c.342C>T	c.(340-342)gcC>gcT	p.A114A	ISCA2_ENST00000298818.8_3'UTR|ISCA2_ENST00000554924.1_3'UTR			Q86U28	ISCA2_HUMAN	iron-sulfur cluster assembly 2	114					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		ATAGCTTGGCCTTCGTGAAAG	0.498000													4	64					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216545	8216545	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8216545C>T	ENST00000361926.3	+	3	1017	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ARHGEF15_ENST00000421050.1_Silent_p.L303L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	303					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGATCTTGATCTGCTTTCTGA	0.592000													5	30					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922126	159922126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159922126G>A	ENST00000368093.3	-	3	706	c.590C>T	c.(589-591)tCc>tTc	p.S197F	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	197	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAGGTGTAGGAGAGGGCACT	0.587000													13	73					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984964	140984964	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140984964A>C	ENST00000298296.1	+	7	1420	c.1420A>C	c.(1420-1422)Aaa>Caa	p.K474Q	MAGEC3_ENST00000409007.1_Missense_Mutation_p.K176Q|MAGEC3_ENST00000544766.1_Missense_Mutation_p.K176Q|MAGEC3_ENST00000536088.1_Missense_Mutation_p.K176Q|MAGEC3_ENST00000443323.2_Missense_Mutation_p.K96Q	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	474	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATATCAAACAAAAGAGCCTGT	0.458000													7	36					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222596	27222596	+	Silent	SNP	G	G	A	rs141944192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27222596G>A	ENST00000230582.3	+	10	1290	c.1275G>A	c.(1273-1275)acG>acA	p.T425T	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.T168T	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	425					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.T425T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGCTCAGACGAACTCCTACT	0.567000													9	77					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892612	17892612	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17892612C>T	ENST00000594202.1	+	23	2199	c.1920C>T	c.(1918-1920)ttC>ttT	p.F640F	FCHO1_ENST00000600676.1_Silent_p.F640F|FCHO1_ENST00000389133.4_Silent_p.F640F|FCHO1_ENST00000539407.1_Silent_p.F640F|FCHO1_ENST00000252771.7_Silent_p.F640F|FCHO1_ENST00000596536.1_Silent_p.F640F|FCHO1_ENST00000596951.1_Silent_p.F640F|FCHO1_ENST00000595033.1_Silent_p.F590F|FCHO1_ENST00000597512.1_Silent_p.F647F	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	640										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ACGCCTACTTCCGTGGCCACA	0.637000													20	79					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601823	43601823	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601823G>A	ENST00000355710.3	+	5	1099		c.e5-1		RET_ENST00000340058.5_Splice_Site	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene						homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATCCTGCAGGACACCGTGG	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				5	27					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76482354G>A	ENST00000389840.5	-	45	7135	c.7011C>T	c.(7009-7011)ttC>ttT	p.F2337F	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Silent_p.F2346F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000													5	40					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465046	10465046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10465046C>T	ENST00000382483.3	-	4	6785	c.6562G>A	c.(6562-6564)Gag>Aag	p.E2188K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2188					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)		GGCTGGGCCTCCCCTTCTGCC	0.617000													18	239					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418837	23418837	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23418837G>C	ENST00000302291.4	-	4	2719	c.1918C>G	c.(1918-1920)Ccg>Gcg	p.P640A	LUZP1_ENST00000418342.1_Missense_Mutation_p.P640A|LUZP1_ENST00000314174.5_Missense_Mutation_p.P640A|LUZP1_ENST00000374623.3_Missense_Mutation_p.P640A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTTCATGCGGACTGCTGTCT	0.458000													22	143					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123201215	123201215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123201215C>T	ENST00000528880.2	-	1	224	c.70G>A	c.(70-72)Gac>Aac	p.D24N	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	24						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GCAATGAAGTCATCTCGGAAC	0.517000													6	31					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804646	43804646	+	Missense_Mutation	SNP	C	C	T	rs148103941		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43804646C>T	ENST00000243924.3	+	2	271	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	75	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				AAGCCTGGCTCCTGCCCCATT	0.488000													10	41					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909176	24909176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24909176G>A	ENST00000396432.2	-	9	2134	c.1648C>T	c.(1648-1650)Cat>Tat	p.H550Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H337Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	549					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.H549D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AAAGATTTATGAATTTCTTGC	0.418000													5	22					0	0	1	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695845	13695845	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:13695845T>G	ENST00000540591.1	-	3	1166	c.1120A>C	c.(1120-1122)Agc>Cgc	p.S374R	PRAMEF19_ENST00000376101.2_Missense_Mutation_p.S305R	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCAGCGGCTCAGGGCAGGC	0.557000													55	199					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121641	50121641	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50121641A>T	ENST00000374160.3	-	1	636	c.560T>A	c.(559-561)aTa>aAa	p.I187K	LRRC18_ENST00000298124.3_Missense_Mutation_p.I187K|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	187						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCTATGAATATTTCCGACTC	0.502000													13	56					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156832720	156832720	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156832720C>T	ENST00000536354.2	+	7	754	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	230					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AAAAAAATATCACCAGAGGCC	0.308000													4	22					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65271728	65271728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65271728C>T	ENST00000389722.3	-	2	282	c.229G>A	c.(229-231)Gat>Aat	p.D77N	SPTB_ENST00000556626.1_Missense_Mutation_p.D77N|SPTB_ENST00000542895.1_Missense_Mutation_p.D77N|SPTB_ENST00000389720.3_Missense_Mutation_p.D77N|SPTB_ENST00000389721.5_Missense_Mutation_p.D77N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	77	Actin-binding.|CH 1.				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	p.D77N(1)		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)		TTGTAGAGATCGGTGATGCGG	0.567000													5	69					0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34396351	34396351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34396351G>A	ENST00000397766.2	+	1	2078	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	540										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CCAACTGGTCGCTGCAAAATT	0.493000													6	36					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162724981	162724981	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:162724981C>T	ENST00000367922.2	+	7	891	c.453C>T	c.(451-453)ttC>ttT	p.F151F	DDR2_ENST00000367921.3_Silent_p.F151F	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	151	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGACATTTTCCTAAAGGACT	0.468000													6	28					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963346	112963346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112963346G>A	ENST00000400613.4	-	2	1211	c.602C>T	c.(601-603)cCt>cTt	p.P201L	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	201										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TATGGAAAGAGGACATTGAGT	0.527000													13	46					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84234385	84234385	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:84234385G>A	ENST00000405413.2	-	5	691	c.555C>T	c.(553-555)atC>atT	p.I185I	HPSE_ENST00000311412.5_Silent_p.I185I|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000512196.1_Silent_p.I185I	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	185					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTAGGCCAAAGATCAAGTCCA	0.408000													4	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241724	3241724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3241724C>T	ENST00000217939.6	-	5	2156	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	668	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCTTGGTCACTGTGATTCCC	0.522000													6	29					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491485	103491485	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103491485C>T	ENST00000358392.2	-	6	1121	c.804G>A	c.(802-804)aaG>aaA	p.K268K	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	268	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTCATCTTCTTTTTGAAAT	0.333000													8	67					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3469395	3469395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3469395C>T	ENST00000324266.5	+	9	1900	c.1705C>T	c.(1705-1707)Cat>Tat	p.H569Y	TRAPPC12_ENST00000469147.1_3'UTR|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.H569Y	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	569							binding										GGAGGCGTATCATTCGGTTAT	0.537000													14	127					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5633672	5633672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5633672C>T	ENST00000310917.2	-	11	2049	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	EVC2_ENST00000344408.5_Missense_Mutation_p.E520K|EVC2_ENST00000344938.1_Missense_Mutation_p.E520K	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	520						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCAAAGTCTTCTTCTTGTTGC	0.473000													6	53					0	0	1	0	0
TCTN3	26123	broad.mit.edu	37	10	97443350	97443350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97443350G>A	ENST00000265993.8	-	10	1375	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S	TCTN3_ENST00000371209.5_Missense_Mutation_p.P378S|TCTN3_ENST00000371217.4_Missense_Mutation_p.P396S|TCTN3_ENST00000430368.1_Missense_Mutation_p.P230S	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	378					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCACTTCTAGGACTGGTGAGA	0.463000													6	58					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861746	94861746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:94861746C>T	ENST00000278505.4	+	2	624	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	169						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ATGACTCAGTCCTTCCAGGAA	0.502000													7	36					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474338	74474338	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74474338G>A	ENST00000394019.2	-	19	2281	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	SLC4A5_ENST00000346834.4_Silent_p.I628I|SLC4A5_ENST00000423644.1_Silent_p.I628I|SLC4A5_ENST00000357822.5_Silent_p.I628I|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.I628I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I628I|SLC4A5_ENST00000359484.4_Silent_p.I564I|SLC4A5_ENST00000358683.4_Silent_p.I564I	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	628						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TATATTTGATGATAAAGCTGG	0.512000													16	126					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94496618	94496618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:94496618G>A	ENST00000370225.3	-	28	4273	c.4187C>T	c.(4186-4188)cCt>cTt	p.P1396L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1396					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCGCCAAAAGGAGGGATAAC	0.517000													7	22					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77076405	77076405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77076405C>T	ENST00000579016.1	+	5	682	c.682C>T	c.(682-684)Cgt>Tgt	p.R228C	ENGASE_ENST00000539857.2_Missense_Mutation_p.R42C	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	228						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCAGTTTTTTCGTTTTGATGG	0.607000													12	55					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47350754	47350754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47350754C>T	ENST00000400314.1	+	13	1189	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Missense_Mutation_p.S284L|PCBP3_ENST00000400309.1_Missense_Mutation_p.S283L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400304.1_Missense_Mutation_p.S274L|PCBP3_ENST00000400308.1_Missense_Mutation_p.S258L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	284					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		atgggccagtcatcaggTAAC	0.547000													8	31					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46623587	46623587	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46623587T>A	ENST00000341415.2	-	4	402	c.378A>T	c.(376-378)taA>taT	p.*126Y	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	0						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		cctggggtttttatgggtaca	0.478000													7	41					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680017	203680017	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203680017C>T	ENST00000357681.5	+	12	2935	c.1812C>T	c.(1810-1812)atC>atT	p.I604I	ATP2B4_ENST00000367218.3_Silent_p.I604I|ATP2B4_ENST00000367219.3_Silent_p.I592I|ATP2B4_ENST00000341360.2_Silent_p.I604I|ATP2B4_ENST00000391954.2_Silent_p.I604I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	604					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTAATCGAATCCTGGACCGGA	0.498000													4	10					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36937434	36937434	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36937434G>A	ENST00000262865.4	+	3	449	c.360G>A	c.(358-360)ggG>ggA	p.G120G	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	120					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				AGATCAGCGGGAAATGGAAGG	0.493000													8	61					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122206628	122206628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:122206628G>A	ENST00000263710.4	-	17	1981	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	CLASP1_ENST00000409078.3_Missense_Mutation_p.S531F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S531F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S299F|CLASP1_ENST00000541859.1_Missense_Mutation_p.S300F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S531F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S531F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	531	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTTCTGGTAGGAGGACTCCAA	0.493000													4	23					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48688462	48688462	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:48688462G>A	ENST00000236495.5	+	1	104	c.54G>A	c.(52-54)agG>agA	p.R18R	SLC5A9_ENST00000420136.2_Silent_p.R11R|SLC5A9_ENST00000533824.1_Silent_p.R18R|SLC5A9_ENST00000438567.2_Silent_p.R18R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	18						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						ACGGGGTCAGGACTGAGACAG	0.572000													9	36					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92638124	92638124	+	Silent	SNP	G	G	A	rs12594058	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:92638124G>A	ENST00000318445.6	+	3	874	c.660G>A	c.(658-660)acG>acA	p.T220T	SLCO3A1_ENST00000424469.2_Silent_p.T220T	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	220					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCCTGTTCACGATGCTGGTAT	0.398000													8	115					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169180	53169180	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53169180G>A	ENST00000332411.2	-	2	860	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	269	Coil 1B.|Rod.				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						ACTTCTTTTTGAAGTCTTCCA	0.517000													9	94					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390707	197390707	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390707C>T	ENST00000367400.3	+	6	1884	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	CRB1_ENST00000367399.2_Silent_p.I471I|CRB1_ENST00000535699.1_Silent_p.I514I|CRB1_ENST00000538660.1_Silent_p.I583I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Silent_p.I64I|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	583	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.I583I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACCTTAATCGACGACTCCT	0.448000													5	50					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510906	55510906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55510906C>T	ENST00000395472.2	+	2	1479	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	SOCS4_ENST00000339298.2_Missense_Mutation_p.R383W|SOCS4_ENST00000555846.1_Missense_Mutation_p.R383W	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	383	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TCCCTTAATTCGGACTTTCCC	0.423000													7	55					0	0	1	0	0
ZNF259	8882	broad.mit.edu	37	11	116649654	116649654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:116649654G>A	ENST00000227322.3	-	14	1426	c.1367C>T	c.(1366-1368)gCt>gTt	p.A456V		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	456					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCGTTGCGGAGCCAGGCCTGC	0.537000													24	207					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576652	33576652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33576652C>T	ENST00000504830.1	-	19	3814	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1075E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1160	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTCTTCCCCTGAGCCACT	0.463000										HNSCC(64;0.19)			4	32					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203143640	203143640	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203143640G>A	ENST00000255416.4	-	3	483	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	142	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACACGCGCAGGAGGAACTTGT	0.637000													4	45					0	0	1	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931652	45931652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45931652G>A	ENST00000275525.3	+	3	937	c.641G>A	c.(640-642)aGc>aAc	p.S214N	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Missense_Mutation_p.S214N	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	214	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TTTTATCACAGCAGACAGGTA	0.483000													6	33					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34191814	34191814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34191814C>T	ENST00000311880.2	-	4	549	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	C17orf66_ENST00000587585.1_5'UTR|C17orf66_ENST00000592980.1_Intron	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	134							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGGCCTGGATCGCATCTCAGA	0.507000													7	73					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56234926	56234926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56234926G>A	ENST00000322569.4	-	3	359	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	MMP19_ENST00000409200.3_Missense_Mutation_p.P90S|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.P90S	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	90					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TGGTTGAAGGGATCCTCTAGG	0.552000													11	101					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886036	60886036	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60886036G>A	ENST00000252999.3	-	74	10269	c.10203C>T	c.(10201-10203)ttC>ttT	p.F3401F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3401	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGTGCAACGAAGTGGCCAT	0.692000													14	45					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307657	39307657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39307657C>T	ENST00000541347.1	-	2	583	c.344G>A	c.(343-345)gGa>gAa	p.G115E	CX3CR1_ENST00000358309.3_Missense_Mutation_p.G147E|CX3CR1_ENST00000399220.2_Missense_Mutation_p.G115E|CX3CR1_ENST00000542107.1_Missense_Mutation_p.G115E	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	115					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GAATATGCTTCCAAAAAAGCC	0.502000													5	72					0	0	1	0	0
FAM20B	9917	broad.mit.edu	37	1	179023749	179023749	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179023749C>T	ENST00000263733.4	+	4	886	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	184						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						CACAGAGCAGCTGTTGAGCAC	0.448000													4	34					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404484	61404484	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61404484C>T	ENST00000496593.1	+	0	1088					NR_002775.2																						CAGCTGCCACCCGTGCTGGTG	0.557000													3	17					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775626	77775626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77775626C>T	ENST00000521891.2	+	11	10124	c.9676C>T	c.(9676-9678)Ctt>Ttt	p.L3226F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3200F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3177F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3181F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCATCTGCTCTTTCAGTGTT	0.423000										HNSCC(33;0.089)			5	27					0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54666249	54666249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54666249C>T	ENST00000336230.6	+	1	358	c.242C>T	c.(241-243)gCc>gTc	p.A81V	MRPL37_ENST00000605337.1_Silent_p.C111C|MRPL37_ENST00000487096.1_Intron|MRPL37_ENST00000360840.5_Silent_p.C111C			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	0					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ACCACCGTTGCCGCCTTCTCG	0.617000													4	51					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958002	61958002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61958002G>A	ENST00000332800.7	-	4	719	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTCACGAGGGGAAATGAAGAA	0.562000													14	113					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104099	168104099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168104099C>T	ENST00000409195.1	+	9	6286	c.6197C>T	c.(6196-6198)aCt>aTt	p.T2066I	XIRP2_ENST00000295237.9_Missense_Mutation_p.T2066I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1844I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1891					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						GGTGTCTGGACTGATACTACA	0.358000													4	10					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121182770	121182770	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:121182770C>T	ENST00000392870.2	+	5	761	c.432C>T	c.(430-432)gcC>gcT	p.A144A	GRK5_ENST00000369108.3_Silent_p.A39A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582000													8	85					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166179688	166179688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166179688C>T	ENST00000357398.3	+	12	1984	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	SCN2A_ENST00000375437.2_Missense_Mutation_p.S565F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S565F|SCN2A_ENST00000375427.2_Missense_Mutation_p.S565F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	565					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATCCGTGGCTCCCTTTTCTCT	0.438000													7	52					0	0	1	0	0
UQCR10	29796	broad.mit.edu	37	22	30163512	30163512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30163512C>T	ENST00000330029.6	+	1	155	c.125C>T	c.(124-126)gCt>gTt	p.A42V	UQCR10_ENST00000401406.3_Missense_Mutation_p.A42V	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	42					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GGCGCGGACGCTATCTACGAC	0.607000													8	39					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797031	127797031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127797031C>T	ENST00000556132.1	-	6	3004	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	SOGA3_ENST00000465909.2_Missense_Mutation_p.E714K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E714K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E714K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E714K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	714						integral to membrane											CCGCTGAGCTCGTTGATCTGC	0.657000													16	96					0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120914643	120914643	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:120914643G>A	ENST00000355697.2	-	11	682	c.663C>T	c.(661-663)tcC>tcT	p.S221S	SFXN4_ENST00000330036.6_Silent_p.S212S|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	221					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCCCCTTAATGGATTCAAGAC	0.473000													10	68					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761339	26761339	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26761339G>A	ENST00000529632.2	+	13	2797	c.2599_splice	c.e13-1	p.S867_splice	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Splice_Site_p.T803_splice|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Splice_Site_p.S867_splice|SEZ6L_ENST00000248933.6_Splice_Site_p.S867_splice|SEZ6L_ENST00000411842.2_Splice_Site_p.S64_splice|SEZ6L_ENST00000402979.1_Splice_Site_p.S640_splice	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	867	Sushi 4.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCATTTCAGCGGAGGAGTCCC	0.532000													6	127					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097370	85097370	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85097370C>T	ENST00000335459.5	-	2	853	c.648G>A	c.(646-648)ttG>ttA	p.L216L	TRABD2A_ENST00000409520.2_Silent_p.L216L|TRABD2A_ENST00000409133.1_Silent_p.L216L	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TCAACCCATTCAATGGATGGC	0.498000													24	159					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233120181	233120181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233120181C>T	ENST00000258229.8	-	34	6517	c.6283G>A	c.(6283-6285)Ggg>Agg	p.G2095R	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2095						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAAGCTGCCCCTGCTCGGTG	0.592000													4	100					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259208	150259208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150259208C>T	ENST00000290363.5	+	5	1449	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	C1orf51_ENST00000369094.1_Missense_Mutation_p.R246C|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334C	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	334										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGGGTCCTCGTTGCTACAG	0.552000													14	95					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080437	1080437	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1080437T>C	ENST00000536472.1	+	13	1645	c.1407T>C	c.(1405-1407)ccT>ccC	p.P469P	HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000543365.1_Intron			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCTGGCCCTTCACCAGAGA	0.687000													8	57					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631265	179631265	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179631265C>T	ENST00000444136.1	+	15	2599	c.2349C>T	c.(2347-2349)tgC>tgT	p.C783C	TDRD5_ENST00000367614.1_Silent_p.C729C|TDRD5_ENST00000294848.8_Silent_p.C729C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	780					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAATGCCATGCCTGGAGTCAG	0.393000													6	26					0	0	1	0	0
LYPD3	27076	broad.mit.edu	37	19	43965848	43965848	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43965848G>A	ENST00000244333.3	-	5	784	c.696C>T	c.(694-696)tcC>tcT	p.S232S		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	232						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GGATTCGAGGGGAGAAGTAGG	0.622000													19	165					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239169517	239169517	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239169517G>A	ENST00000254657.3	-	13	1773	c.1494C>T	c.(1492-1494)acC>acT	p.T498T	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	498					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGCTGGAGGAGGTCTGGCTCA	0.622000													32	210					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643881C>T	ENST00000393986.2	-	5	870	c.658G>A	c.(658-660)Gag>Aag	p.E220K	KRT36_ENST00000328119.6_Missense_Mutation_p.E270K			O76013	KRT36_HUMAN	keratin 36	270	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602000													8	86					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160873150	160873150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160873150G>A	ENST00000283243.7	-	9	1732	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.S509F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	509					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCAGCATCAGAGAGGACATG	0.373000													9	65					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599224	6599224	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6599224C>T	ENST00000433363.2	-	7	1109	c.876G>A	c.(874-876)aaG>aaA	p.K292K	SLC13A5_ENST00000381074.4_Silent_p.K249K|SLC13A5_ENST00000573648.1_Silent_p.K292K|SLC13A5_ENST00000293800.6_Silent_p.K275K	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	292						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCTCGTTTTTCTTGCTCTCTA	0.562000													5	121					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236924440	236924440	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236924440C>T	ENST00000366578.4	+	20	2659	c.2493C>T	c.(2491-2493)gtC>gtT	p.V831V	ACTN2_ENST00000542672.1_Silent_p.V831V|ACTN2_ENST00000546208.1_Silent_p.V325V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	831					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCGAGCAGGTCATCGCCTCCT	0.517000													7	52					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691313	26691313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26691313C>T	ENST00000436292.1	-	4	844	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ZNF683_ENST00000374204.1_Missense_Mutation_p.E242K|ZNF683_ENST00000403843.1_Missense_Mutation_p.E242K|ZNF683_ENST00000349618.3_Missense_Mutation_p.E242K			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGCCCCAGCTCATTGACCATC	0.637000													26	90					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28128716	28128716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28128716G>A	ENST00000304658.5	-	15	2427	c.1927C>T	c.(1927-1929)Cac>Tac	p.H643Y	XPO6_ENST00000565698.1_Missense_Mutation_p.H629Y	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	643					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTCTGCCGGTGAACTTCACTG	0.488000													7	77					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													4	106					0	0	1	0	0
HPSE	10855	broad.mit.edu	37	4	84234386	84234386	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:84234386A>T	ENST00000405413.2	-	5	690	c.554T>A	c.(553-555)aTc>aAc	p.I185N	HPSE_ENST00000311412.5_Missense_Mutation_p.I185N|HPSE_ENST00000513463.1_Intron|HPSE_ENST00000512196.1_Missense_Mutation_p.I185N	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	185					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TAGGCCAAAGATCAAGTCCAG	0.408000													4	50					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290767	141290767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:141290767G>A	ENST00000247452.3	-	3	1354	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	336	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTCAAAGCATCCTTGTA	0.473000										HNSCC(46;0.14)			12	60					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509371	33509371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33509371C>T	ENST00000360596.2	+	12	1646	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.P429S|ACSS2_ENST00000253382.5_Missense_Mutation_p.P492S	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	479					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GACTCCCCTTCCTGGTGCCAC	0.562000													15	122					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893205	144893205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144893205G>A	ENST00000356994.2	-	11	1150	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	SCRIB_ENST00000320476.3_Missense_Mutation_p.L382F|SCRIB_ENST00000377533.3_Missense_Mutation_p.L301F	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	382	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGGGCCTTGAGATTGAGGTGG	0.677000													4	16					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727484	3727484	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:3727484G>A	ENST00000252505.3	+	5	360	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	85							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TCCTCAGGCTGGGGATCCAAG	0.567000										HNSCC(21;0.051)			8	99					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127239557	127239557	+	Missense_Mutation	SNP	G	G	A	rs141748303	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:127239557G>A	ENST00000265825.5	+	5	1462	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	FSCN3_ENST00000420086.2_Missense_Mutation_p.D281N	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	415						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGATCAGCCCGACCGCATTCA	0.547000													11	115					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154030	5154030	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5154030C>T	ENST00000252321.3	+	1	946	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	239						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I239I(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGTGGCTTATCTTCGAGTATC	0.602000													12	104					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19207416	19207416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19207416G>A	ENST00000263200.10	-	18	2969	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S966F|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S966F	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	966	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTGTCTCCTGGATGGGTTGGT	0.527000			T	?	ALCL								12	70					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138671281	138671281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138671281G>A	ENST00000298480.5	+	24	2880	c.2806G>A	c.(2806-2808)Gac>Aac	p.D936N	KCNT1_ENST00000486577.2_Missense_Mutation_p.D895N|KCNT1_ENST00000488444.2_Missense_Mutation_p.D917N|KCNT1_ENST00000371757.2_Missense_Mutation_p.D936N|KCNT1_ENST00000487664.1_Missense_Mutation_p.D891N|KCNT1_ENST00000490355.2_Missense_Mutation_p.D915N|KCNT1_ENST00000491806.2_Missense_Mutation_p.D903N|KCNT1_ENST00000263604.3_Missense_Mutation_p.D917N			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	936						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGCGCCAAGGACAGCTACTC	0.617000													11	87					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34490045	34490045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:34490045G>A	ENST00000242317.4	+	6	595	c.424G>A	c.(424-426)Gga>Aga	p.G142R	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	142					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TTCAGAAACAGGAAACCTCGA	0.498000									Kartagener syndrome				5	18					0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43968829	43968829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43968829C>T	ENST00000336600.5	+	2	177	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000439969.2_Missense_Mutation_p.P67L|C6orf223_ENST00000448947.2_Intron|RP5-1120P11.1_ENST00000422059.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	53										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			TTCAGCTGTCCTCAaagcagg	0.542000													5	115					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68961554	68961554	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:68961554C>T	ENST00000261778.1	+	13	2223	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ATCCGGTCATCCAAGAACTCG	0.468000													8	89					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124663868	124663868	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:124663868G>A	ENST00000325995.7	-	1	1322	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	433										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CAAAGAGATAGAGTCTTTGGT	0.532000													6	104					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134869	81134869	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81134869G>A	ENST00000533478.1	-	0	5293				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAATCTACGATCTCCCCTT	0.493000													4	24					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86118489	86118489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:86118489G>A	ENST00000394518.2	+	6	885	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	AKAP13_ENST00000361243.2_Missense_Mutation_p.E264K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	264					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						TTCACATCATGAACACCCATT	0.388000													11	77					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390597	197390597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390597C>T	ENST00000367400.3	+	6	1774	c.1639C>T	c.(1639-1641)Cag>Tag	p.Q547*	CRB1_ENST00000367399.2_Nonsense_Mutation_p.Q435*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.Q478*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.Q547*|CRB1_ENST00000543483.1_Nonsense_Mutation_p.Q246*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.Q28*|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	547	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTATCAATTCAGGTCAATAA	0.458000													9	49					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59195323	59195323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59195323G>A	ENST00000262717.4	+	7	1539	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	CDH20_ENST00000536675.2_Missense_Mutation_p.E381K|CDH20_ENST00000538374.1_Missense_Mutation_p.E381K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	381	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CATCAGTGTGGAAGACGTGGA	0.498000													7	46					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155194	151155194	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:151155194A>C	ENST00000282466.3	-	6	7154	c.7155T>G	c.(7153-7155)agT>agG	p.S2385R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2385	Ig-like C2-type 10.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATACTGATAACTTTGTGGTC	0.403000													6	52					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554093	150554093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150554093G>A	ENST00000493429.1	+	4	1119	c.535G>A	c.(535-537)Gac>Aac	p.D179N	AOC1_ENST00000416793.2_Missense_Mutation_p.D179N|AOC1_ENST00000360937.4_Missense_Mutation_p.D179N|AOC1_ENST00000467291.1_Missense_Mutation_p.D179N					amine oxidase, copper containing 1																		AGACTGCCATGACAGATGCCT	0.567000													6	56					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278990	152278990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152278990C>T	ENST00000368799.1	-	3	8407	c.8372G>A	c.(8371-8373)gGg>gAg	p.G2791E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2791	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGACCCCGGGTGTCC	0.592000									Ichthyosis				34	614					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659436	50659436	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50659436C>A	ENST00000439308.2	-	16	3844	c.3352G>T	c.(3352-3354)Ggg>Tgg	p.G1118W	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.G1118W|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1118	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACATTCTCCCCGACCCTGATG	0.602000													5	212					1	1	1	1	0
ASCC2	84164	broad.mit.edu	37	22	30202864	30202864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30202864G>A	ENST00000397771.2	-	11	1115	c.938C>T	c.(937-939)tCc>tTc	p.S313F	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000542393.1_Missense_Mutation_p.S237F|ASCC2_ENST00000307790.3_Missense_Mutation_p.S313F			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCTGGAATGGGAGAGCCTCTG	0.512000													5	39					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974285	128974285	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:128974285C>T	ENST00000522781.1	-	4	930	c.375G>A	c.(373-375)ggG>ggA	p.G125G	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.G125G	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	125										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTTGAGGTTCCCCTTTTTGC	0.542000													5	38					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989592	53989592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:53989592G>A	ENST00000514921.1	+	3	654	c.541G>A	c.(541-543)Ggg>Agg	p.G181R	MLIP_ENST00000509997.1_Missense_Mutation_p.G129R|MLIP_ENST00000502396.1_Missense_Mutation_p.G192R|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G119R|MLIP_ENST00000274897.5_Missense_Mutation_p.G181R|MLIP_ENST00000358276.5_Missense_Mutation_p.G175R|MLIP_ENST00000370877.2_Missense_Mutation_p.G129R			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	181						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAACACAGGGGACTGATCT	0.552000													3	27					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52511653	52511653	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52511653C>T	ENST00000345716.4	+	9	1116	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	NISCH_ENST00000464280.1_3'UTR|NISCH_ENST00000488380.1_Silent_p.L328L|NISCH_ENST00000479054.1_Silent_p.L328L|NISCH_ENST00000420808.2_Silent_p.L328L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	328	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGTGGACAATCTGCAGGTAGT	0.532000													11	88					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100182978	100182978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100182978G>A	ENST00000328526.5	-	1	920	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F	XKRX_ENST00000372956.2_Missense_Mutation_p.L106F|XKRX_ENST00000468904.1_Missense_Mutation_p.L106F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	106						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGTCCCAAGAGGATTAGATGC	0.398000													9	38					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119669722	119669722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:119669722C>T	ENST00000368468.3	-	2	950	c.509G>A	c.(508-510)gGc>gAc	p.G170D	MAN1A1_ENST00000368466.2_Missense_Mutation_p.G170D	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	170					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CGGGGGCAGGCCTCTGAACGG	0.632000													4	75					0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817556	38817556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38817556G>A	ENST00000263372.3	+	2	753	c.646G>A	c.(646-648)Ggc>Agc	p.G216S		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	216						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GTCCACCATCGGCCTGGGCGA	0.627000													34	151					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560117	145560117	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145560117G>A	ENST00000355594.4	+	8	690	c.603G>A	c.(601-603)gtG>gtA	p.V201V	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	201										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGCCGAGGTGGCTGAACTGC	0.567000													8	76					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9085128	9085128	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9085128G>A	ENST00000400906.1	-	2	56	c.57C>T	c.(55-57)ctC>ctT	p.L19L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	19						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTCGGCTGGAGCCGCTGTA	0.652000													7	31					0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413481	226413481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226413481G>A	ENST00000366810.5	+	2	731	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	MIXL1_ENST00000542034.1_Missense_Mutation_p.E231K|MIXL1_ENST00000557734.1_3'UTR			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	223					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		CTCATGGGAGGAACACATCTT	0.498000													7	153					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349105	150349105	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150349105C>T	ENST00000218316.3	+	2	1119	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	350	Pro-rich.				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)					GTGAACAAGACCGTGCCCATG	0.602000													14	57					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036145	21036145	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21036145C>T	ENST00000247986.2	-	4	967	c.657G>A	c.(655-657)gaG>gaA	p.E219E	KIF17_ENST00000400463.3_Silent_p.E219E|KIF17_ENST00000375044.1_Silent_p.E119E			Q9P2E2	KIF17_HUMAN	kinesin family member 17	219	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGCAGACATCTCGATGCTGA	0.602000													5	50					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41304053	41304053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:41304053C>T	ENST00000347132.5	+	14	2028	c.1946C>T	c.(1945-1947)tCg>tTg	p.S649L	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.S595L	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	649	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCTGGCACCTCGGCCAGCCTG	0.667000													16	149					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67515549	67515549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:67515549C>T	ENST00000590474.1	+	5	629	c.342C>T	c.(340-342)acC>acT	p.T114T	MAP2K6_ENST00000589647.1_Silent_p.T58T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	114	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TCACTGTCACCTTTTATGGCG	0.443000													6	101					0	0	1	0	0
MIR494	574452	broad.mit.edu	37	14	101495993	101495993	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:101495993C>T	ENST00000349529.2	+	0	23					NR_030174.1																						AGAGGTTGTCCGTGTTGTCTT	0.418000													6	49					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216325	2216325	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2216325C>T	ENST00000398665.3	+	20	2005	c.1969C>T	c.(1969-1971)Ctg>Ttg	p.L657L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	657						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAGCTCCTGCAGCTCAA	0.682000													13	89					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152529286	152529286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152529286G>A	ENST00000367255.5	-	125	23246	c.22645C>T	c.(22645-22647)Cgc>Tgc	p.R7549C	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7161C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7478C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7549C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2073C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7478C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7549					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)		TGGGCCCTGCGAATCACTCCC	0.468000										HNSCC(10;0.0054)			4	41					0	0	1	0	0
TMEM81	388730	broad.mit.edu	37	1	205052974	205052974	+	Missense_Mutation	SNP	G	G	A	rs147380601		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205052974G>A	ENST00000367167.3	-	1	671	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	159	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACATCACAGCGATATGTCCCA	0.448000													18	43					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64875094	64875094	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64875094G>A	ENST00000533854.1	+	3	438	c.201G>A	c.(199-201)gaG>gaA	p.E67E	CACNG5_ENST00000169565.3_Silent_p.E67E|CACNG5_ENST00000307139.3_Silent_p.E67E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	67					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCACAGGTGAGGAGCGGGGGC	0.463000													8	83					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613905	135613905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:135613905G>A	ENST00000520727.1	-	7	2320	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	ZFAT_ENST00000520214.1_Missense_Mutation_p.P674L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P624L|ZFAT_ENST00000377838.3_Missense_Mutation_p.P686L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P674L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P674L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCTACTGGAGGGAGGAGGTC	0.597000													8	51					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100678503	100678503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100678503C>T	ENST00000375119.3	-	2	270	c.194G>A	c.(193-195)aGg>aAg	p.R65K	C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	65					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ATTAAAGATCCTCTTTCTAAT	0.418000													7	22					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943605	91943605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:91943605C>T	ENST00000375807.3	+	5	676	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SECISBP2_ENST00000534113.2_Missense_Mutation_p.S134F|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.S129F	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	202					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GACAGGAAATCCAGAATCATT	0.353000													7	29					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505192	24505192	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:24505192C>T	ENST00000357578.3	+	4	850	c.705C>T	c.(703-705)ttC>ttT	p.F235F	ALDH5A1_ENST00000546278.1_Silent_p.F147F|ALDH5A1_ENST00000491546.1_Silent_p.F207F|ALDH5A1_ENST00000348925.2_Silent_p.F235F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	235					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	ACACGCCCTTCTCCGCCCTGG	0.567000													5	92					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288251	45288251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45288251G>A	ENST00000372192.3	-	22	3578	c.3448C>T	c.(3448-3450)Ccc>Tcc	p.P1150S	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1150					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AAGCTCTGGGGCAGGGAGGAG	0.627000									Basal Cell Nevus syndrome				8	135					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993313	38993313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38993313C>T	ENST00000355481.4	+	48	7912	c.7781C>T	c.(7780-7782)tCg>tTg	p.S2594L	RYR1_ENST00000359596.3_Missense_Mutation_p.S2594L|RYR1_ENST00000360985.3_Missense_Mutation_p.S2594L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2594	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGGGTCGTTCGCTCACCAAG	0.652000													8	37					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100383691	100383691	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100383691G>A	ENST00000542585.1	+	0	7052				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCAGTGCGGGGACTTCCGATG	0.582000													6	74					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666741	57666741	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:57666741C>A	ENST00000554048.2	-	5	438		c.e5-1			NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GGAACCAAATCTAAGTGGTAA	0.378000													6	32					0.00116845	0.00118051	1	1	0
CHGB	1114	broad.mit.edu	37	20	5897495	5897495	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5897495C>T	ENST00000378961.4	+	3	324	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	40						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCATTGAGGTCCTCTCAAATG	0.562000													5	68					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33252005	33252005	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33252005G>A	ENST00000373477.4	-	8	1772	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	288					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AAGCTGTGTAGGTTTTGTTTC	0.398000													4	47					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20417110	20417110	+	Silent	SNP	C	C	T	rs144012929		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20417110C>T	ENST00000375108.3	+	5	610	c.342C>T	c.(340-342)ctC>ctT	p.L114L	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	114					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.L114L(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ACCGGAAGCTCGTCTACTGCC	0.567000													18	81					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203696663	203696663	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203696663C>T	ENST00000357681.5	+	20	4396	c.3273C>T	c.(3271-3273)atC>atT	p.I1091I	ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367218.3_Silent_p.I1091I|ATP2B4_ENST00000367219.3_Silent_p.I1079I|ATP2B4_ENST00000341360.2_Silent_p.I1091I|ATP2B4_ENST00000391954.2_Silent_p.I1055I	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1091	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGGCCAGATCCTCTGGTTCC	0.577000													12	76					0	0	1	0	0
C7orf57	136288	broad.mit.edu	37	7	48081078	48081078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48081078C>T	ENST00000348904.3	+	3	415	c.203C>T	c.(202-204)tCg>tTg	p.S68L	C7orf57_ENST00000420324.1_Missense_Mutation_p.S113L|C7orf57_ENST00000430738.1_Missense_Mutation_p.S113L|C7orf57_ENST00000539619.1_Missense_Mutation_p.S68L|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	68										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAACAGATTCGGAATATGTG	0.597000													4	7					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36871143	36871143	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36871143C>T	ENST00000429976.2	-	22	8836	c.8589G>A	c.(8587-8589)gcG>gcA	p.A2863A	TRANK1_ENST00000428977.2_Silent_p.A2313A|TRANK1_ENST00000301807.6_Silent_p.A2313A			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2863					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCGAGTCATCGCCTCCTCCG	0.488000													8	44					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134369687	134369687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134369687G>A	ENST00000508956.1	-	1	173	c.116C>T	c.(115-117)tCg>tTg	p.S39L	KY_ENST00000423778.2_Missense_Mutation_p.S39L|KY_ENST00000503669.1_Missense_Mutation_p.S39L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	39						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTGCAGCAGCGAGCTCGGGTT	0.701000													4	24					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241976243	241976243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241976243G>A	ENST00000310397.8	+	5	842	c.842G>A	c.(841-843)gGc>gAc	p.G281D	SNED1_ENST00000405547.3_Missense_Mutation_p.G281D|SNED1_ENST00000342631.6_Missense_Mutation_p.G281D|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.G281D	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	281	EGF-like 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCCTCAACGGCGGCAAGTGC	0.692000													11	58					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170176145	170176145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:170176145C>T	ENST00000588451.1	+	14	1609	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	C6orf70_ENST00000418781.3_Missense_Mutation_p.R502C|C6orf70_ENST00000366772.2_Missense_Mutation_p.R502C|C6orf70_ENST00000366773.3_Missense_Mutation_p.R502C|C6orf70_ENST00000392095.4_Missense_Mutation_p.R376C			Q5T6L9	CF070_HUMAN		502						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGACTTGGATCGTCTTCCTAC	0.388000													5	53					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589171	47589171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:47589171C>T	ENST00000273859.3	+	22	4158	c.3889C>T	c.(3889-3891)Cca>Tca	p.P1297S		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1297					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CATGCTGGATCCAGTATTCTA	0.398000													4	25					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173879315	173879315	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:173879315G>A	ENST00000264111.6	+	18	1966	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	RAPGEF4_ENST00000540783.1_Silent_p.E441E|RAPGEF4_ENST00000397087.3_Silent_p.E450E|RAPGEF4_ENST00000539331.1_Silent_p.E441E|RAPGEF4_ENST00000535187.1_Silent_p.E374E|RAPGEF4_ENST00000397081.3_Silent_p.E594E|RAPGEF4_ENST00000538974.1_Silent_p.E423E|RAPGEF4_ENST00000409036.1_Silent_p.E594E			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	594	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCCTGCAAGAGGATGACGTGT	0.502000													4	31					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160293284	160293284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160293284G>A	ENST00000241704.7	-	8	872	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	COPA_ENST00000368069.3_Missense_Mutation_p.P215S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	215					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCATAGTGGGGTGGAAGGCA	0.438000													3	30					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212472	131212472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:131212472G>A	ENST00000298542.4	-	12	1748	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	FRMD7_ENST00000464296.1_Missense_Mutation_p.P510S|FRMD7_ENST00000370879.1_Missense_Mutation_p.P405S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	525					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.P525T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATTGCAGTGGGCTCTACATAG	0.498000													6	15					0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421649	50421649	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50421649G>A	ENST00000435965.1	-	6	803	c.630C>T	c.(628-630)atC>atT	p.I210I	CACNA2D2_ENST00000424201.2_Silent_p.I210I|CACNA2D2_ENST00000360963.3_Silent_p.I141I|CACNA2D2_ENST00000423994.2_Silent_p.I210I|CACNA2D2_ENST00000479441.1_Silent_p.I210I|CACNA2D2_ENST00000429770.1_Silent_p.I210I|CACNA2D2_ENST00000266039.3_Silent_p.I210I|CACNA2D2_ENST00000395083.1_Silent_p.I210I			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	210					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGTCCGTAGGGATCTGTACAG	0.562000													13	207					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52734840	52734840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52734840C>T	ENST00000306051.2	+	1	410	c.308C>T	c.(307-309)tCg>tTg	p.S103L	PTGDR_ENST00000553372.1_Missense_Mutation_p.S103L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	103						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TTGGACAACTCGTTGTGCCAA	0.617000													16	119					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062959	76062959	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76062959C>T	ENST00000416245.1	+	3	1273	c.180C>T	c.(178-180)ttC>ttT	p.F60F	ZP3_ENST00000394857.3_Silent_p.F236F|ZP3_ENST00000336517.4_Silent_p.F185F			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	236	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TCGTGGACTTCCATGGGTGAG	0.552000													5	74					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393910	115393910	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115393910C>T	ENST00000369358.4	-	15	1732	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	NRAP_ENST00000359988.3_Silent_p.Q496Q|NRAP_ENST00000360478.3_Silent_p.Q461Q|NRAP_ENST00000369360.3_Silent_p.Q461Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	496						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTTGAACAATCTGTGGGGTGT	0.468000													14	62					0	0	1	0	0
HLF	3131	broad.mit.edu	37	17	53392718	53392718	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:53392718C>T	ENST00000226067.5	+	3	1055	c.582C>T	c.(580-582)gaC>gaT	p.D194D	HLF_ENST00000430986.2_Silent_p.D109D|HLF_ENST00000573945.1_Silent_p.D109D|HLF_ENST00000575345.1_Silent_p.D109D	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	194	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAATGTTTGACCCTCGCAAAC	0.512000			T	TCF3	ALL								17	77					0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162353002	162353002	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:162353002G>A	ENST00000458626.2	+	2	520	c.348G>A	c.(346-348)ctG>ctA	p.L116L	C1orf226_ENST00000426197.2_Silent_p.L159L	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	116										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TTCCTCGGCTGGATCCTCCAC	0.517000													6	35					0	0	1	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66988935	66988935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:66988935G>A	ENST00000276570.5	+	4	447	c.160G>A	c.(160-162)Gat>Aat	p.D54N	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	54	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAATCCAGATGATCCAGCTGC	0.403000													6	44					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643194	156643194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156643194G>A	ENST00000296518.7	+	9	1930	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R574Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R574Q|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R574Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R574Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R316Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R574Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	574	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTCAGATGCGAATTGGACTG	0.398000													5	24					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64213068	64213068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64213068G>A	ENST00000205948.6	-	6	659	c.622C>T	c.(622-624)Cca>Tca	p.P208S		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	208	Sushi 4.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GGTCTTGATGGGAATGGGCAT	0.348000													14	51					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486309	30486309	+	Silent	SNP	C	C	T	rs113297228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30486309C>T	ENST00000375938.4	+	4	400	c.147C>T	c.(145-147)acC>acT	p.T49T	TTLL9_ENST00000535842.1_Silent_p.T49T|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375934.4_Silent_p.T31T|TTLL9_ENST00000375922.4_5'UTR|TTLL9_ENST00000375921.2_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	49	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAAGACCACCCTCATGAACA	0.537000													6	56					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240855	149240855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:149240855C>T	ENST00000407073.1	+	10	3692	c.2695C>T	c.(2695-2697)Cat>Tat	p.H899Y	MBD5_ENST00000404807.1_Missense_Mutation_p.H899Y	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	899						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCACGCACTTCATTTTCCATC	0.498000													6	49					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15673171	15673171	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:15673171T>G	ENST00000281171.4	+	10	2146	c.1816T>G	c.(1816-1818)Ttc>Gtc	p.F606V	PTPRO_ENST00000348962.2_Missense_Mutation_p.F606V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	606	Fibronectin type-III 6.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTACTACAACTTCCGGGTTAC	0.468000													5	60					0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80395114	80395114	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80395114C>T	ENST00000337014.6	+	8	1248	c.774C>T	c.(772-774)gcC>gcT	p.A258A	HEXDC_ENST00000577944.1_Silent_p.A258A|HEXDC_ENST00000327949.9_Silent_p.A258A	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	258					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCAAGGGTGCCACGGGGCCCA	0.667000													9	142					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48773927	48773927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:48773927C>T	ENST00000316623.5	-	32	4344	c.3889G>A	c.(3889-3891)Gaa>Aaa	p.E1297K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1297	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCGTGTTTTCACAGGTCCCA	0.373000													4	32					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081266	194081266	+	Silent	SNP	G	G	A	rs149184445		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194081266G>A	ENST00000347624.3	-	2	592	c.507C>T	c.(505-507)ttC>ttT	p.F169F	LRRC15_ENST00000428839.1_Silent_p.F175F|LRRC15_ENST00000439944.2_Silent_p.F175F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	169						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CCAGGTGGTCGAAGGCTCCGT	0.592000													10	195					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186634	7186634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7186634C>T	ENST00000317370.8	+	2	372	c.104C>T	c.(103-105)tCc>tTc	p.S35F	SLC2A4_ENST00000424875.2_Missense_Mutation_p.S25F|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S35F|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	35					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTGCTTGGCTCCCTGCAGTTT	0.597000													17	69					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692520	49692520	+	Missense_Mutation	SNP	C	C	T	rs150712047	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49692520C>T	ENST00000296452.4	+	5	5645	c.5531C>T	c.(5530-5532)gCc>gTc	p.A1844V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1844					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCACCGGGCCACCCCTGCA	0.642000													12	48					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338712	19338712	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19338712C>T	ENST00000252575.5	+	8	2326	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	NCAN_ENST00000538881.1_Silent_p.F212F	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	761					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.F775F(1)|p.F761F(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTGGGGTCTTCGACACAGCAG	0.582000													20	74					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497682	61497682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61497682C>T	ENST00000424789.2	+	25	4343	c.4339C>T	c.(4339-4341)Ccc>Tcc	p.P1447S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1457S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1447							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ACCCTCCTCTCCCCCGCATCG	0.582000													4	53					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85964350	85964350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:85964350G>A	ENST00000372117.3	+	9	954	c.851G>A	c.(850-852)aGc>aAc	p.S284N	CDHR1_ENST00000332904.3_Missense_Mutation_p.S284N|CDHR1_ENST00000440770.2_Missense_Mutation_p.S43N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	284	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTACAGCCTTGTAAAT	0.562000													4	75					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50901911	50901911	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50901911C>T	ENST00000374113.3	+	2	236	c.189C>T	c.(187-189)ttC>ttT	p.F63F	C10orf53_ENST00000374112.3_Silent_p.F63F|C10orf53_ENST00000535836.1_Silent_p.F63F|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374111.3_Silent_p.F63F			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	63										endometrium(1)|lung(6)	7		all_neural(218;0.107)				AAGTCATCTTCCACTGCAACA	0.473000													8	61					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147576	115147576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115147576G>A	ENST00000393274.1	-	11	2259	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	DENND2C_ENST00000393276.3_Missense_Mutation_p.S488L|DENND2C_ENST00000393277.1_Missense_Mutation_p.S545L|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	545	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		CCAGTCCTTTGAATCAGGAAA	0.353000													4	17					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238772	3238772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3238772G>A	ENST00000217939.6	-	5	5108	c.4954C>T	c.(4954-4956)Cct>Tct	p.P1652S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1652						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCCAGAAGGATATGTAGTT	0.453000													9	95					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074502	143074502	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:143074502G>A	ENST00000367603.2	-	10	7825	c.7083C>T	c.(7081-7083)ccC>ccT	p.P2361P	HIVEP2_ENST00000012134.2_Silent_p.P2361P|HIVEP2_ENST00000367604.1_Silent_p.P2361P|RP1-67K17.3_ENST00000437067.1_RNA	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CACTTCCCAGGGGGTTCTGGT	0.577000													5	31					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033115	20033115	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:20033115G>A	ENST00000377340.2	-	2	386	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	CRNKL1_ENST00000377327.4_Silent_p.L107L	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	119					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGAACTTGCAGGACTGACCTT	0.607000													12	62					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130710405	130710405	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130710405G>A	ENST00000373095.1	-	6	936	c.561C>T	c.(559-561)acC>acT	p.T187T	FAM102A_ENST00000300434.3_Intron|FAM102A_ENST00000373084.4_Silent_p.T45T	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	187	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCAGGGAGTTGGTGCTGCTGC	0.652000													5	68					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58196622	58196622	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58196622C>T	ENST00000483681.1	-	3	593	c.12G>A	c.(10-12)gaG>gaA	p.E4E	DNASE1L3_ENST00000486455.1_Silent_p.E4E|DNASE1L3_ENST00000394549.2_Silent_p.E4E|DNASE1L3_ENST00000318316.3_Silent_p.E4E			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	4					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GTGGGGCCAGCTCCCGTGACA	0.592000													7	25					0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	843546	843546	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:843546G>A	ENST00000544537.2	+	1	206	c.24G>A	c.(22-24)ggG>ggA	p.G8G	PRTN3_ENST00000234347.5_Silent_p.G49G			P24158	PRTN3_HUMAN	proteinase 3	49					collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGCGGGGGAACCCGGGCA	0.711000													4	11					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48458892	48458892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48458892G>A	ENST00000004980.5	-	12	1709	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	SENP1_ENST00000448372.1_Missense_Mutation_p.H411Y|SENP1_ENST00000549595.1_Missense_Mutation_p.H411Y|SENP1_ENST00000551330.1_Missense_Mutation_p.H411Y|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.H411Y			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	411					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GTTAATTTATGACCTTTTTTT	0.338000													3	6					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12739939	12739939	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12739939C>T	ENST00000343325.4	+	4	1758	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	ZNF791_ENST00000540038.1_Silent_p.A423A|ZNF791_ENST00000458122.3_Silent_p.A500A|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTGGGAAGGCCTTTAGTCTTC	0.398000													10	86					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120347241	120347241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:120347241C>T	ENST00000283871.5	-	14	1783	c.1324G>A	c.(1324-1326)Gca>Aca	p.A442T		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	442					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTAGGTTCTGCTGGGTTCCTG	0.473000													7	78					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45428767	45428767	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45428767C>T	ENST00000321429.4	+	10	1373	c.966C>T	c.(964-966)ttC>ttT	p.F322F	DUOX1_ENST00000389037.3_Silent_p.F322F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	322	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTCAGAGTTCGTGGCGGCCT	0.577000													6	73					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228459751	228459751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228459751G>A	ENST00000570156.2	+	20	5889	c.5815G>A	c.(5815-5817)Gag>Aag	p.E1939K	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.E411K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	920	Ig-like 19.				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)				AGCCCAGACGGAGGTTATGTG	0.637000													6	33					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307638	46307638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46307638C>T	ENST00000221538.3	-	3	1667	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E509K|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E245K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	509	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCCTCCTCCTCGTCGCCCTCC	0.657000													7	41					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98109980	98109980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98109980G>A	ENST00000383695.1	+	1	471	c.471G>A	c.(469-471)atG>atA	p.M157I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGCATCCCATGATTGAAGTAG	0.423000													4	24					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41262675	41262675	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41262675C>T	ENST00000284440.4	+	4	330	c.186C>T	c.(184-186)ttC>ttT	p.F62F	UCHL1_ENST00000508768.1_Silent_p.F62F|UCHL1_ENST00000503431.1_Silent_p.F62F|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Silent_p.F62F	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	62					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ATGAGAACTTCAGGAAAAAGC	0.408000													5	31					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628097	33628097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:33628097C>T	ENST00000380099.3	+	2	1021	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P31L	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	338	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGTGACTATCCCGAGAGCATG	0.393000													16	56					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779424	159779424	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159779424G>A	ENST00000321935.6	+	6	944	c.858G>A	c.(856-858)gaG>gaA	p.E286E	FCRL6_ENST00000392235.3_Silent_p.E184E|FCRL6_ENST00000368106.3_Silent_p.E279E|FCRL6_ENST00000339348.5_Silent_p.E279E			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	279	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GCGAGGCTGAGAACAGTGTCT	0.557000													5	45					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54791948	54791948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54791948G>A	ENST00000297313.3	+	2	388	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	99					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GAGGCTCCCCGGAGGCGCCTG	0.731000													7	53					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35250155	35250155	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35250155G>A	ENST00000329285.7	-	4	1924	c.1551C>T	c.(1549-1551)acC>acT	p.T517T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTGCAGGTTGGGTAAAAGCCT	0.408000													6	28					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995187	32995187	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32995187C>T	ENST00000330953.5	+	2	441	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	91					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCGTGTTTTCCCTCCCTTTTT	0.507000													7	97					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126433650	126433650	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126433650C>T	ENST00000373624.2	-	7	574	c.372_splice	c.e7-1	p.E125_splice	DENND1A_ENST00000373618.1_Splice_Site_p.E93_splice|DENND1A_ENST00000373620.3_Splice_Site_p.E125_splice|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Splice_Site_p.E93_splice|DENND1A_ENST00000394215.2_Splice_Site_p.E95_splice	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	125	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CACTGATTTTCCTGAAAGAAA	0.502000													6	68					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103434387	103434387	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:103434387C>T	ENST00000493442.1	+	6	1261	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	365										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GTGGGCTCTTCCTTAACGAAG	0.498000													11	27					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86772958	86772958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:86772958G>A	ENST00000373119.4	+	1	207	c.62G>A	c.(61-63)tGg>tAg	p.W21*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.W21*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	21						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CGCTGGAGGTGGTTTAGTCAT	0.488000													3	19					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978611	65978611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65978611C>T	ENST00000320580.4	+	4	574	c.541C>T	c.(541-543)Cat>Tat	p.H181Y		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	181				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTAGTACCCTCATTTCCTTAA	0.488000													19	186					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626178	140626178	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140626178C>T	ENST00000231173.3	+	1	1032	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		344	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGATAACTTCCCGGAACTAA	0.458000													4	63					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57828693	57828693	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57828693C>T	ENST00000309668.2	+	1	151	c.24C>T	c.(22-24)gcC>gcT	p.A8A	INHBC_ENST00000550133.1_Silent_p.A8A	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	8					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGCTTCTGGCCTTTCTCCTCC	0.602000													5	30					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300324	196300324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196300324G>A	ENST00000367433.5	-	18	2166	c.2065C>T	c.(2065-2067)Cat>Tat	p.H689Y	KCNT2_ENST00000451324.2_Missense_Mutation_p.H300Y|KCNT2_ENST00000294725.8_Missense_Mutation_p.H689Y|KCNT2_ENST00000367431.4_Missense_Mutation_p.H639Y|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	689						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACTTTTTCATGAAGGAGATGA	0.299000													5	20					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451141	155451141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155451141G>A	ENST00000461783.3	+	6	2057	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E262K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E262K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E262K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.E262K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	262					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAGCTGAGCGAGGCTGAGGG	0.617000													5	63					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564584	117564584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117564584G>A	ENST00000256652.4	+	7	2465	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	CD101_ENST00000369470.1_Missense_Mutation_p.E803K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	803					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.E803*(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGACTAACAGAATTGAAACT	0.483000													8	28					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41745271	41745271	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41745271C>T	ENST00000352645.4	+	16	2171	c.1914C>T	c.(1912-1914)atC>atT	p.I638I	ZC3H7B_ENST00000351589.4_Silent_p.I638I	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	654					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACAGCTTCATCGAGCTCAAGG	0.652000													17	84					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39120346	39120346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39120346C>T	ENST00000216044.5	+	6	1236	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	335					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACCAGGCTGCCGGAAGATCCC	0.542000													5	68					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771092	229771092	+	Silent	SNP	G	G	A	rs143308460	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:229771092G>A	ENST00000258243.2	+	4	868	c.732G>A	c.(730-732)ggG>ggA	p.G244G		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	244						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCGAGGAGGGATTTTTCAGC	0.592000													5	63					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11216102	11216102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11216102G>A	ENST00000558518.1	+	4	707	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.E133K|LDLR_ENST00000558013.1_Missense_Mutation_p.E174K|LDLR_ENST00000557933.1_Missense_Mutation_p.E174K	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	174	LDL-receptor class A 4.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCCCGACTGCGAAGATGGCTC	0.647000													46	173					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943161	12943161	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12943161G>A	ENST00000235349.5	-	2	125	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	19								p.L19M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTAGCAGGCTCCGCCCT	0.562000													14	191					0	0	1	0	0
MAFA	389692	broad.mit.edu	37	8	144511634	144511634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144511634C>T	ENST00000333480.2	-	1	942	c.943G>A	c.(943-945)Gag>Aag	p.E315K	MAFA_ENST00000528185.1_Intron	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	315					insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			gccAGCTTCTCGTATTTCTCC	0.721000										HNSCC(29;0.082)			6	33					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765418	141765418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141765418C>T	ENST00000475668.2	+	39	4703	c.4649C>T	c.(4648-4650)tCc>tTc	p.S1550F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1550	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTGGCATATCCTATGTGAGT	0.498000													10	44					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991175	47991175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991175G>A	ENST00000371741.4	-	2	1088	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	308					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)			GCAAGCTTAAGGATGCGGAGA	0.547000													5	58					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476323	70476323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70476323G>A	ENST00000260128.4	+	5	830	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SULF1_ENST00000419716.3_Missense_Mutation_p.R38Q|SULF1_ENST00000402687.4_Missense_Mutation_p.R38Q|SULF1_ENST00000458141.2_Missense_Mutation_p.R38Q	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	38					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGCAGGAACGAAAAAACATC	0.493000													7	43					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53421715	53421715	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:53421715G>A	ENST00000322213.4	-	19	3083	c.2956C>T	c.(2956-2958)Ctg>Ttg	p.L986L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	986					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TCCTCACACAGATCACCGTAG	0.547000													9	29					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832323	47832323	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47832323G>A	ENST00000289672.2	-	56	8478	c.8428C>T	c.(8428-8430)Cta>Tta	p.L2810L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2810					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGAGTTGTAGGCTGTCGGAC	0.413000													4	62					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707777	26707777	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26707777G>A	ENST00000529632.2	+	8	1921	c.1725G>A	c.(1723-1725)ggG>ggA	p.G575G	SEZ6L_ENST00000403121.1_Silent_p.G348G|SEZ6L_ENST00000360929.3_Silent_p.G575G|SEZ6L_ENST00000343706.4_Silent_p.G575G|SEZ6L_ENST00000404234.3_Silent_p.G575G|SEZ6L_ENST00000248933.6_Silent_p.G575G|SEZ6L_ENST00000402979.1_Silent_p.G348G	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	575	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCAGAATGGGAACTTCACTA	0.562000													52	230					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115298574	115298574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:115298574G>A	ENST00000357872.4	+	1	384	c.260G>A	c.(259-261)tGg>tAg	p.W87*	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		87					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CCGAGCAACTGGCGACCCCCG	0.692000													5	41					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867299	29867299	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867299G>A	ENST00000399218.4	-	4	1316	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	GAREM_ENST00000269209.6_Silent_p.L421L	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		TGATAGGGCAGGATGTCATGA	0.532000													5	97					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117261780	117261780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117261780G>A	ENST00000278935.3	+	17	2279	c.2132G>A	c.(2131-2133)aGg>aAg	p.R711K	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	711	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGCTGAGAGGGCCAGCTTG	0.542000													4	73					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70502258	70502258	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70502258C>T	ENST00000265872.6	+	6	569	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CCAR1_ENST00000543719.1_Silent_p.F135F|CCAR1_ENST00000535016.1_Silent_p.F135F	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	150					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGCGTGTTTTCACAGGGGTGG	0.433000													9	67					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29498074	29498074	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29498074G>A	ENST00000389048.3	-	11	2838	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	644					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATTCTGCAGGATCTTGTCCT	0.493000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				16	43					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561886	145561886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145561886C>T	ENST00000355594.4	+	10	1661	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	525										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGGGGACTCCCCGTGCTGAG	0.617000													25	158					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583528	7583528	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7583528C>T	ENST00000379802.3	+	24	6374	c.6033C>T	c.(6031-6033)ttC>ttT	p.F2011F	DSP_ENST00000418664.2_Silent_p.F1412F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2011	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAGCCATTCCTTCGGGGTG	0.453000													5	45					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033975	30033975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:30033975C>T	ENST00000328224.6	-	2	1484	c.251G>A	c.(250-252)aGg>aAg	p.R84K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	84				RRRRQ -> EEEAT (in Ref. 1; AAA60034).		voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.R84M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCGCCTCCTCCTCCGACTACC	0.632000													5	60					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78831722	78831722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78831722C>T	ENST00000537330.1	+	12	2259	c.976C>T	c.(976-978)Ccc>Tcc	p.P326S	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000306801.3_Intron|RPTOR_ENST00000575542.1_Intron			Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	0					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCCCTCCTCCCCAGAGTGAT	0.647000													6	25					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123450	81123450	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:81123450C>T	ENST00000339711.4	+	10	2065	c.834C>T	c.(832-834)tcC>tcT	p.S278S	PRDM8_ENST00000415738.2_Silent_p.S278S|PRDM8_ENST00000504452.1_Silent_p.S278S	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	278	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCAGCTGCTCCCCAGCCCAGA	0.726000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	32					0	0	1	0	0
HAUS2	55142	broad.mit.edu	37	15	42851594	42851594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42851594C>T	ENST00000260372.3	+	3	307	c.244C>T	c.(244-246)Cct>Tct	p.P82S	HAUS2_ENST00000568876.1_Missense_Mutation_p.P51S|HAUS2_ENST00000568846.2_Missense_Mutation_p.P51S	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	82					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						TGTTGTTCATCCTTTCTTTTT	0.338000													5	45					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020952	5020952	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5020952C>T	ENST00000382545.3	+	2	1515	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	136					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACGAGGGCTTCATCAAGGAGG	0.637000													10	51					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41352930	41352930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41352930C>T	ENST00000301141.5	-	5	701	c.681G>A	c.(679-681)atG>atA	p.M227I	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	227					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GCAGGTGTTTCATCACCGAAG	0.557000													12	88					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39671762	39671762	+	Silent	SNP	G	G	A	rs142117852	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39671762G>A	ENST00000254043.3	-	6	4794	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	KRT15_ENST00000393981.3_Silent_p.I238I|KRT15_ENST00000393974.3_Silent_p.I238I|KRT15_ENST00000393976.2_Silent_p.I403I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	403	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GGTAAGTAGCGATCTCCTGCT	0.607000													12	71					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21743222	21743222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21743222G>A	ENST00000319481.3	-	28	2980	c.2774C>T	c.(2773-2775)cCc>cTc	p.P925L	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.P412L|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.P543L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	925					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TCCATTGTAGGGATTAGGACC	0.408000													3	34					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849869	156849869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156849869G>A	ENST00000368196.3	+	15	2227	c.2107G>A	c.(2107-2109)Gac>Aac	p.D703N	NTRK1_ENST00000358660.3_Missense_Mutation_p.D706N|NTRK1_ENST00000392302.2_Missense_Mutation_p.D673N|NTRK1_ENST00000524377.1_Missense_Mutation_p.D709N|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	709	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CACCGAGAGCGACGTGTGGAG	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			7	75					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671422	45671422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45671422C>T	ENST00000308064.2	-	4	1722	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	351					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCCGAGTTTCGCACGGTGCC	0.682000													6	65					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14589289	14589289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14589289G>A	ENST00000393033.4	-	9	1210	c.941C>T	c.(940-942)cCt>cTt	p.P314L	GIPC1_ENST00000345425.2_Missense_Mutation_p.P314L|GIPC1_ENST00000591349.1_Missense_Mutation_p.P217L|GIPC1_ENST00000393029.3_Missense_Mutation_p.P217L|GIPC1_ENST00000393028.1_Missense_Mutation_p.P217L|GIPC1_ENST00000586027.1_Missense_Mutation_p.P314L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	314					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GAACTCGTCAGGGAAGGCAAA	0.647000													4	35					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20628566	20628566	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20628566C>T	ENST00000525748.1	+	4	966	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	231					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTTTCCTCATCCCTTACCTGA	0.582000													5	81					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7594574	7594574	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7594574C>T	ENST00000264079.6	+	11	1460	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	445					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGCTGGATCGTGCTGGGGC	0.582000													8	138					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44247922	44247922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44247922C>T	ENST00000371505.4	-	5	1624	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.G198E|TCTE1_ENST00000371503.3_Missense_Mutation_p.G198E	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	501								p.G501E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTCATTTTATCCCACAGAGTT	0.577000													6	123					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38051693	38051693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38051693G>A	ENST00000463876.1	-	7	1482	c.1129C>T	c.(1129-1131)Cac>Tac	p.H377Y	PLCD1_ENST00000334661.4_Missense_Mutation_p.H356Y	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	356	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTATAGCCGTGGTAGATGATT	0.607000													9	72					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224571	172224571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:172224571G>A	ENST00000241261.2	-	5	679	c.557C>T	c.(556-558)tCc>tTc	p.S186F	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	186					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTATGTTTGGGAATAGATGTA	0.383000													4	61					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65988626	65988626	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65988626C>T	ENST00000320580.4	+	10	1234	c.1199_splice	c.e10-1	p.P401_splice		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	401					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCACCACAGGCCTTTCTTTGA	0.587000													25	87					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821263	151821263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:151821263C>T	ENST00000370306.2	+	9	1438	c.1418C>T	c.(1417-1419)gCt>gTt	p.A473V		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	473						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)					GGTTTCCAGGCTGATGACAGT	0.562000													9	79					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155742921	155742921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155742921G>A	ENST00000437809.1	-	18	2553	c.2431C>T	c.(2431-2433)Cca>Tca	p.P811S	GON4L_ENST00000271883.5_Missense_Mutation_p.P811S|GON4L_ENST00000368331.1_Missense_Mutation_p.P811S|GON4L_ENST00000361040.5_Missense_Mutation_p.P811S|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	811					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAACACACTGGAAGTAACTCT	0.443000													6	69					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817461	26817461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26817461C>T	ENST00000444914.3	+	3	788	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	74						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AGCCATGTCTCCACCTGCCAG	0.602000													14	133					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185169095	185169095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185169095G>A	ENST00000265026.3	+	7	1524	c.1190G>A	c.(1189-1191)cGa>cAa	p.R397Q	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R190Q|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R253Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R397Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R253Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	397	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCTCGAAACCGACCTTCTTTT	0.398000													9	44					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19525396	19525396	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19525396G>A	ENST00000375267.2	-	4	408	c.405C>T	c.(403-405)ggC>ggT	p.G135G	UBR4_ENST00000375217.2_Silent_p.G135G|UBR4_ENST00000375254.3_Silent_p.G135G|UBR4_ENST00000375226.2_Silent_p.G135G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	135					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGTGCACAGGCCCTTGATTA	0.373000													4	46					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804610	27804610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27804610G>A	ENST00000408964.2	+	1	5222	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1724	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									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)					CCCGCTCGGAGGAGCCATCGC	0.562000													14	176					0	0	1	0	0
OCLN	100506658	broad.mit.edu	37	5	68805379	68805379	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:68805379G>A	ENST00000355237.2	+	3	898	c.462G>A	c.(460-462)gtG>gtA	p.V154V	OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Silent_p.V154V|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Silent_p.V154V	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	154	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCGCGTTGGTGATCTTTGTTA	0.443000													7	64					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324757	9324757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9324757C>T	ENST00000308682.2	-	1	785	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGTCCTGTTCCATAGAACAAG	0.522000													4	26					0	0	1	0	0
ACOT2	10965	broad.mit.edu	37	14	74041646	74041646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74041646C>T	ENST00000238651.5	+	3	1063	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ACOT2_ENST00000538782.1_Missense_Mutation_p.S97F|ACOT2_ENST00000557857.1_3'UTR	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	294					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CTTGGAATTTCCAAAGGGGGT	0.498000													8	92					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92869203	92869203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:92869203C>T	ENST00000305866.5	+	2	186	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.L20F|CCDC132_ENST00000544910.1_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.L20F	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	20										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAGAAAGCCTCAGTGATCT	0.378000													11	69					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614415	148614415	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148614415C>G	ENST00000296046.3	+	11	1227	c.1175C>G	c.(1174-1176)tCc>tGc	p.S392C	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	392					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTCCAGAATCCCGGATAAAG	0.438000													3	41					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44636230	44636230	+	Missense_Mutation	SNP	G	G	A	rs143217347		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44636230G>A	ENST00000322734.2	+	3	878	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAACATCAGCGAATGCACAGA	0.408000													11	87					0	0	1	0	0
LGALS14	56891	broad.mit.edu	37	19	40197299	40197299	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40197299G>A	ENST00000392052.3	+	2	301	c.78G>A	c.(76-78)ccG>ccA	p.P26P	LGALS14_ENST00000360675.3_Silent_p.P55P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	26	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CAGGGACACCGATCCTCACTT	0.493000													11	39					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468774	56468774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56468774G>A	ENST00000288221.6	-	2	517	c.262C>T	c.(262-264)Cga>Tga	p.R88*		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	88						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TATACAGCTCGATTTGTAGCC	0.498000													7	87					0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	307152	307152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:307152G>A	ENST00000264819.4	-	13	1593	c.1583C>T	c.(1582-1584)cCg>cTg	p.P528L		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGGGCCGGGCACGTGGG	0.677000													4	12					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441662	125441662	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125441662G>T	ENST00000308736.2	-	17	2275	c.2177C>A	c.(2176-2178)cCg>cAg	p.P726Q	DHX37_ENST00000544745.1_Missense_Mutation_p.P513Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P726L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGGGCGTCGGGAAGGGGAA	0.622000													7	70					2.17888e-05	2.20919e-05	1	1	0
ALPI	248	broad.mit.edu	37	2	233322730	233322730	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233322730G>A	ENST00000295463.3	+	8	956	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	293					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGAGACACGAAATATGAGA	0.622000													8	36					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298130	123298130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123298130G>A	ENST00000358487.5	-	6	996	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	FGFR2_ENST00000360144.3_Missense_Mutation_p.H153Y|FGFR2_ENST00000359354.2_Missense_Mutation_p.H242Y|FGFR2_ENST00000457416.2_Missense_Mutation_p.H242Y|FGFR2_ENST00000369056.1_Missense_Mutation_p.H242Y|FGFR2_ENST00000369060.4_Missense_Mutation_p.H242Y|FGFR2_ENST00000346997.2_Missense_Mutation_p.H242Y|FGFR2_ENST00000369059.1_Missense_Mutation_p.H127Y|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369061.4_Missense_Mutation_p.H242Y|FGFR2_ENST00000351936.6_Missense_Mutation_p.H242Y|FGFR2_ENST00000356226.4_Missense_Mutation_p.H127Y|FGFR2_ENST00000357555.5_Missense_Mutation_p.H153Y	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	242	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGGTACGTGTGATTGATGGAC	0.493000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				4	18					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219248997	219248997	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219248997T>C	ENST00000233202.6	+	3	522	c.182T>C	c.(181-183)tTc>tCc	p.F61S	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_Intron	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	61	Pro/Ser-rich.				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGCCTTCACGGGGCCT	0.602000													6	135					0	0	1	0	0
TRGV8	6982	broad.mit.edu	37	7	38370126	38370126	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38370126C>T	ENST00000390343.2	-	0	285																											GCCTTCCCCTCCTGGTGTAGG	0.483000													5	41					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17191061	17191061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:17191061C>T	ENST00000285681.2	+	10	1345	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	USP25_ENST00000400183.2_Nonsense_Mutation_p.Q326*|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Nonsense_Mutation_p.Q326*			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	326					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GTACCCACTTCAGGTCAATGG	0.363000													6	22					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684074	109684074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109684074C>T	ENST00000338432.7	+	39	5511	c.5392C>T	c.(5392-5394)Cgc>Tgc	p.R1798C	ACACB_ENST00000377854.5_Missense_Mutation_p.R1728C|ACACB_ENST00000377848.3_Missense_Mutation_p.R1798C|ACACB_ENST00000543201.1_Missense_Mutation_p.R464C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1798					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CATCACCTTTCGCATTGGATC	0.567000													8	92					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23856860	23856860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23856860C>T	ENST00000405093.3	-	32	4598	c.4528G>A	c.(4528-4530)Gaa>Aaa	p.E1510K	MYH6_ENST00000356287.3_Missense_Mutation_p.E1510K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1510					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCGAGATTTCCTCTGGGGAC	0.582000													5	59					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631087	6631087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6631087G>A	ENST00000333172.6	+	2	503	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TAS1R1_ENST00000328191.4_Missense_Mutation_p.D104N|TAS1R1_ENST00000351136.3_Missense_Mutation_p.D104N	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	104					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGCTGTATGATGTGTGTTC	0.557000													20	152					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141331012	141331012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:141331012C>T	ENST00000325617.5	-	4	696	c.256G>A	c.(256-258)Gag>Aag	p.E86K	CLGN_ENST00000537281.1_Missense_Mutation_p.E86K|CLGN_ENST00000414773.1_Missense_Mutation_p.E86K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	86					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GAAATTTCCTCATCCATGTCA	0.274000													5	56					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120702595	120702595	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:120702595C>T	ENST00000527524.2	+	7	833	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GRIK4_ENST00000438375.2_Silent_p.F182F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	182					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCCGGCAATTCCTTATCTCCA	0.602000													5	58					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101641	37101641	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37101641C>T	ENST00000435416.1	+	2	1724	c.229C>T	c.(229-231)Cta>Tta	p.L77L	ZNF382_ENST00000423582.1_Silent_p.L28L|ZNF382_ENST00000439428.1_Silent_p.L76L|ZNF382_ENST00000292928.2_Silent_p.L77L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	77	KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTACAGCTACCTAGGTGAGTC	0.373000													3	25					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734913	140734913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140734913C>T	ENST00000571252.1	+	1	146	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAACATCGCCAAGGACCTG	0.632000													15	67					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45205647	45205647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45205647C>T	ENST00000372224.4	+	1	156	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Missense_Mutation_p.L15F	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	15	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GTTTCCCGGTCTCGCTATCAA	0.562000													53	399					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183439712	183439712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183439712C>T	ENST00000305135.5	+	5	520	c.325C>T	c.(325-327)Cat>Tat	p.H109Y		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	109					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTTTTAATCATCCTGCTAT	0.348000													7	83					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119942	21119942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21119942G>A	ENST00000255882.6	-	20	2454	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000572273.1_Missense_Mutation_p.R732W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	732					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTCTGTAACCGAGGCTTAGCT	0.532000													8	72					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	66997830	66997830	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:66997830C>T	ENST00000303334.4	+	4	623	c.552C>T	c.(550-552)ggC>ggT	p.G184G	CES3_ENST00000394037.1_Silent_p.G184G	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	184						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGTCCTTGGCTTCTTCAGGT	0.607000													7	65					0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9831593	9831593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9831593G>A	ENST00000343450.2	-	3	809	c.262C>T	c.(262-264)Cga>Tga	p.R88*	TADA3_ENST00000301964.2_Nonsense_Mutation_p.R88*|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Nonsense_Mutation_p.R88*	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	88					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGGTCTCGACCCAGCTTC	0.557000													7	79					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64641554	64641554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64641554G>A	ENST00000413366.3	+	5	480	c.454G>A	c.(454-456)Gga>Aga	p.G152R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	152					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAGCCTCTGCGGAATGGATCA	0.522000													9	35					0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57876774	57876774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57876774C>T	ENST00000311585.7	+	2	732	c.362C>T	c.(361-363)cCc>cTc	p.P121L	EDN3_ENST00000371025.3_Missense_Mutation_p.P121L|EDN3_ENST00000337938.2_Missense_Mutation_p.P121L|EDN3_ENST00000395654.3_Missense_Mutation_p.P121L|EDN3_ENST00000371028.2_Missense_Mutation_p.P121L	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	121					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					ATCAACACTCCCGAGTAAGTC	0.587000													4	94					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200523668	200523668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200523668G>A	ENST00000367350.4	-	29	4933	c.4495C>T	c.(4495-4497)Cgt>Tgt	p.R1499C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1499	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCTGGAGCACGATTAACCATC	0.279000													3	21					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61452568	61452568	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61452568G>A	ENST00000343916.3	+	6	348	c.345_splice	c.e6+1	p.G115_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	115	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGCTGGGGGTGAGTATGG	0.627000													8	42					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842024	8842024	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8842024T>A	ENST00000324060.2	+	1	709	c.634T>A	c.(634-636)Tcc>Acc	p.S212T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCCCTCTTTCCCTCATCGC	0.592000													6	49					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30974044	30974044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:30974044C>T	ENST00000597505.1	-	19	2662	c.2663G>A	c.(2662-2664)tGg>tAg	p.W888*	DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_5'UTR			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)					AAGCTTGTTCCATAGAGGATT	0.408000													4	12					0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27850085	27850085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:27850085C>T	ENST00000310791.2	+	1	658	c.590C>T	c.(589-591)gCt>gTt	p.A197V	RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536317.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA	NM_001029874.1	NP_001025045.1	Q6BDI9	REP15_HUMAN	RAB15 effector protein	197						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					GGAGGGAAGGCTGTGGCTCAG	0.493000													6	50					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727687	13727687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13727687C>T	ENST00000265104.4	-	70	12066	c.11962G>A	c.(11962-11964)Gat>Aat	p.D3988N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3988					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGATTTATCATAGGCATTT	0.388000									Kartagener syndrome				6	19					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2089975	2089975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2089975G>A	ENST00000544865.1	-	12	3554	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F	SMG6_ENST00000536871.2_Missense_Mutation_p.S138F|SMG6_ENST00000354901.4_Missense_Mutation_p.S138F|SMG6_ENST00000263073.5_Missense_Mutation_p.S1046F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1046					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGATCCAGGGATGTGGGAGG	0.592000													6	28					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945117	144945117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144945117C>T	ENST00000525985.1	-	2	2376	c.2305G>A	c.(2305-2307)Gac>Aac	p.D769N				P58107	EPIPL_HUMAN	epiplakin 1	769						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTTGGGGTCGAAGAAGCCC	0.627000													12	115					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43950826	43950826	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43950826T>A	ENST00000262726.7	-	27	3824	c.3571A>T	c.(3571-3573)Atg>Ttg	p.M1191L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1039L|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1191	EF-hand 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCGTTTTCATGGTGTCAAAA	0.522000													10	136					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52381754	52381754	+	Silent	SNP	G	G	A	rs61747861	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52381754G>A	ENST00000420592.1	-	4	1408	c.75C>T	c.(73-75)ttC>ttT	p.F25F	ZNF577_ENST00000412216.1_Silent_p.F25F|ZNF577_ENST00000451628.2_Silent_p.F25F|ZNF577_ENST00000301399.5_Silent_p.F25F|ZNF577_ENST00000485702.1_5'UTR			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCACATCTTCGAATGACAATG	0.458000													4	30					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768061	31768061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:31768061C>T	ENST00000240587.4	-	2	2965	c.2638G>A	c.(2638-2640)Gag>Aag	p.E880K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	880					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCAGCCTCCTCCAGAGTGGCC	0.582000													9	38					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621203	38621203	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38621203C>T	ENST00000222345.6	+	10	3443	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	978	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCAGCTGGGCTTCCACGTGA	0.657000													18	82					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799669	5799669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5799669G>A	ENST00000317093.2	-	1	228	c.196C>T	c.(196-198)Ccg>Tcg	p.P66S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAATACATCGGATGATGTAAG	0.453000													3	2					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086274	100086274	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100086274G>A	ENST00000423930.1	+	4	1089	c.930G>A	c.(928-930)cgG>cgA	p.R310R	NYAP1_ENST00000454988.1_Silent_p.R253R|NYAP1_ENST00000300179.2_Silent_p.R310R			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	310	Pro-rich.																TCCCGAGCCGGAGGGACGGGA	0.682000													6	80					0	0	1	0	0
DLX1	1745	broad.mit.edu	37	2	172952913	172952913	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172952913C>T	ENST00000361725.4	+	3	1148	c.696C>T	c.(694-696)tcC>tcT	p.S232S	DLX1_ENST00000341900.6_3'UTR|DLX1_ENST00000550686.1_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACGCGGGCTCCTATATCCCCA	0.617000													6	108					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532927	113532927	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113532927C>T	ENST00000257600.3	+	7	1970	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	489					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGATGGAGTTCCACCTCATCC	0.652000													7	58					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155032808	155032808	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155032808C>T	ENST00000356955.2	+	18	2297	c.2196C>T	c.(2194-2196)acC>acT	p.T732T	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.T742T|ADAM15_ENST00000449910.2_Silent_p.T732T|ADAM15_ENST00000360674.4_Silent_p.T732T|ADAM15_ENST00000359280.4_Silent_p.T732T|ADAM15_ENST00000271836.6_Silent_p.T732T|ADAM15_ENST00000368413.1_Silent_p.T438T|ADAM15_ENST00000368410.2_Silent_p.T438T|ADAM15_ENST00000368412.3_Silent_p.T732T|ADAM15_ENST00000355956.2_Silent_p.T732T	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	732					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)			AGGGACCCACCTGCCAGTACA	0.607000													11	36					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424395	56424395	+	Missense_Mutation	SNP	G	G	A	rs137923694		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56424395G>A	ENST00000588751.1	-	5	812	c.788C>T	c.(787-789)tCc>tTc	p.S263F	NLRP13_ENST00000342929.3_Missense_Mutation_p.S263F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	263	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAAACATAGGAGAACCTTTG	0.468000													6	40					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464038	50464038	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50464038C>T	ENST00000447370.2	-	2	321	c.231G>A	c.(229-231)cgG>cgA	p.R77R	SIGLEC11_ENST00000426971.2_Silent_p.R77R	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTGGGCTGGTCCGTCCTTTGA	0.602000													12	39					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61296383	61296383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61296383C>T	ENST00000217159.1	+	6	1424	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.P407S|RP11-93B14.5_ENST00000451648.1_RNA	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	407					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CACGTTCAGCCCCAAGTTCTT	0.572000													17	130					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415583	145415583	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145415583C>T	ENST00000336751.5	+	3	640	c.402C>T	c.(400-402)gcC>gcT	p.A134A	HFE2_ENST00000357836.5_Silent_p.A21A|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	134					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ggggccccgcccTTCCAGGCG	0.687000													6	20					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778437	56778437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:56778437G>A	ENST00000423391.1	-	1	199	c.98C>T	c.(97-99)cCc>cTc	p.P33L	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	33						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TATCATGGAGGGGAACACAGC	0.587000													3	10					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893709	75893709	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:75893709C>T	ENST00000322507.8	-	9	1458	c.1149G>A	c.(1147-1149)ggG>ggA	p.G383G	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.G383G|COL12A1_ENST00000416123.2_Silent_p.G383G	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	383	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTCTGAGGCCCCACACTCA	0.507000													6	29					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475081	97475081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97475081G>A	ENST00000377075.2	+	7	2253	c.2155G>A	c.(2155-2157)Ggg>Agg	p.G719R	CNNM4_ENST00000540067.1_Missense_Mutation_p.R235Q	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	719					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTACCAGAACGGGCTGCTGGC	0.592000													5	40					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670708	95670708	+	Silent	SNP	G	G	A	rs111287470	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95670708G>A	ENST00000298912.4	-	9	1091	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	326						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CAGTCAGAACGAAGACTTTGC	0.443000													14	113					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42784408	42784408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42784408C>T	ENST00000310232.6	-	8	1050	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	323										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTGTTTTTCCCTTTCCAGG	0.562000													9	136					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834343	125834343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125834343G>A	ENST00000299308.3	+	2	406	c.398G>A	c.(397-399)aGa>aAa	p.R133K	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	133						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACTCCAACAGACCCAAAGTG	0.468000													7	100					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354177	57354177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:57354177G>A	ENST00000314922.3	-	2	534	c.458C>T	c.(457-459)tCc>tTc	p.S153F	PENK_ENST00000451791.2_Missense_Mutation_p.S153F|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CAGGTCTGAGGAATTGGCCAG	0.527000													7	108					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919643	45919643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45919643C>T	ENST00000395629.2	+	2	409	c.79C>T	c.(79-81)Cat>Tat	p.H27Y	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.H37Y			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	37					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CAGGCTCACCCATGACATCAG	0.542000													5	25					0	0	1	0	0
PRR21	643905	broad.mit.edu	37	2	240981419	240981419	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240981419G>A	ENST00000408934.1	-	1	980	c.981C>T	c.(979-981)tcC>tcT	p.S327S		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	327										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GAAGAGACGTGGATGAAGAGG	0.592000													10	154					0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	110303671	110303671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:110303671C>T	ENST00000405709.2	-	6	957	c.515G>A	c.(514-516)aGa>aAa	p.R172K	IMMP2L_ENST00000452895.1_Missense_Mutation_p.R172K|IMMP2L_ENST00000331762.3_Missense_Mutation_p.R172K|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000450877.1_Missense_Mutation_p.R154K|IMMP2L_ENST00000415362.1_Missense_Mutation_p.R172K	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	172					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TTCCTCTTCTCTCTGTACTGG	0.493000													5	48					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588121	247588121	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247588121A>G	ENST00000366497.2	+	4	2156	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	NLRP3_ENST00000336119.3_Missense_Mutation_p.E459G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E459G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E459G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E459G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E459G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	459	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)			GGGAGCCAGGAGCACGGCCTC	0.587000													3	30					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677792	62677792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62677792G>A	ENST00000306960.3	-	2	1322	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	261					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CGGCAGCAGCGACAGCAGCGG	0.652000													12	109					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266420	39266420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39266420C>T	ENST00000280481.7	+	1	5155	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1647					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATGAAGATCCAGGTCTTGGC	0.493000													5	75					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884741	160884741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160884741G>A	ENST00000283243.7	-	6	1293	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H363Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	363					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACTATTTCATGATCAATGTGG	0.333000													5	44					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391459	139391459	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139391459G>A	ENST00000277541.6	-	34	6807	c.6732C>T	c.(6730-6732)atC>atT	p.I2244I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2244					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.K2182fs*61(1)|p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCAGGTGCCCGATGCCCAGGT	0.716000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	21					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181674	128181674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181674C>T	ENST00000469083.1	-	2	2972	c.415G>A	c.(415-417)Gga>Aga	p.G139R	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G139R			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	139					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGAAATTCTCCAAAGCCTGCC	0.617000													9	26					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61250266	61250266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61250266C>T	ENST00000338608.2	+	4	492	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	PPP1R32_ENST00000432063.2_Missense_Mutation_p.P123S|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	123																	CAGTGCGGGTCCCCCCACCAA	0.682000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106083983	106083983	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106083983G>A	ENST00000357242.5	+	10	1762	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E524K|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E530K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	530	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTGGCTACTGAAGAAATTGA	0.453000													6	21					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44248039	44248039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44248039C>T	ENST00000371505.4	-	5	1507	c.1385G>A	c.(1384-1386)aGc>aAc	p.S462N	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.S159N|TCTE1_ENST00000371503.3_Missense_Mutation_p.S159N	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	462										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGTACTCGCTTTCCTGGGC	0.587000													6	98					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139793202	139793202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139793202G>A	ENST00000303045.6	-	13	2064	c.1618C>T	c.(1618-1620)Ccc>Tcc	p.P540S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P540S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	540	Collagen-like 2.|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)			CTCCCAGGGGGGCCGGGCAGG	0.532000										HNSCC(7;0.00092)			9	113					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10477456	10477456	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10477456C>T	ENST00000538557.1	+	10	1204	c.960C>T	c.(958-960)atC>atT	p.I320I	PGD_ENST00000270776.8_Silent_p.I333I|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.I311I			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	333					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCAAGATCATCTCTTACGCTC	0.507000													22	208					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33076601	33076601	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:33076601C>A	ENST00000397149.3	-	1	56	c.6G>T	c.(4-6)tcG>tcT	p.S2S	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	2						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CGATTTCGATCGACATAGCCG	0.627000													4	83					0.150653	0.151545	1	1	0
RYR1	6261	broad.mit.edu	37	19	38924499	38924499	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38924499C>T	ENST00000355481.4	+	1	161	c.30C>T	c.(28-30)gtC>gtT	p.V10V	RYR1_ENST00000359596.3_Silent_p.V10V|RYR1_ENST00000360985.3_Silent_p.V10V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	10					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGACGAGGTCCAGTTCCTGC	0.647000													6	146					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038839	17038839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17038839C>T	ENST00000443236.1	-	25	3522	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCGGTGGCTCGCTCAGACCC	0.617000													13	77					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72738419	72738419	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72738419G>A	ENST00000340415.3	+	3	1219	c.210G>A	c.(208-210)gtG>gtA	p.V70V	RAB37_ENST00000392612.3_Silent_p.V40V|RAB37_ENST00000392613.5_Silent_p.V77V|RAB37_ENST00000528438.1_Silent_p.V50V|RAB37_ENST00000392615.5_Silent_p.V45V|RAB37_ENST00000392614.4_Silent_p.V82V|RAB37_ENST00000402449.4_Silent_p.V70V|RAB37_ENST00000392610.1_Silent_p.V77V	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	77					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGGATGGCGTGAGAGTGAAGC	0.587000													4	22					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636190	18636190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18636190G>A	ENST00000336349.5	-	3	1866	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	544	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GATATTCTTGGAAGAAATTGT	0.498000													15	80					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26228958	26228958	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26228958C>T	ENST00000335473.7	+	16	3304	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	MYO18B_ENST00000407587.2_Silent_p.P1018P|MYO18B_ENST00000536101.1_Silent_p.P1018P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1018	Myosin head-like.					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						ATCAAAATCCCTCTCAGGTAA	0.498000													9	70					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038969	185038969	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:185038969C>T	ENST00000296741.2	-	4	759	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	206					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCATCTTTCCTCTGCGGAG	0.582000													12	98					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730116	27730116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27730116C>T	ENST00000264717.2	+	13	1144	c.1081C>T	c.(1081-1083)Cgt>Tgt	p.R361C	GCKR_ENST00000424318.2_Missense_Mutation_p.R171C	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	361	SIS 2.				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)					CCGAGATGTCCGTGGCTTTCT	0.498000													100	256					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705836	35705836	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35705836G>T	ENST00000373866.3	+	2	218	c.196G>T	c.(196-198)Gac>Tac	p.D66Y	ARMC12_ENST00000288065.2_Missense_Mutation_p.D93Y|ARMC12_ENST00000373869.3_Missense_Mutation_p.D66Y			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	66							binding										GCACGGGCGGGACTCAGGTGA	0.567000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	69					7.03913e-09	7.15534e-09	1	1	0
ALDH7A1	501	broad.mit.edu	37	5	125887820	125887820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:125887820G>A	ENST00000409134.3	-	14	1429	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R340C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R367C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	404					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	TTTCCAGGGCGATCCATAACC	0.398000													4	12					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763579	113763579	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113763579G>A	ENST00000259211.6	+	2	450	c.39G>A	c.(37-39)ggG>ggA	p.G13G		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	13					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CTCAGCAGGGGAGCATTCAGG	0.468000													6	56					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101503026	101503026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:101503026C>T	ENST00000370476.5	+	4	439	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	104					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		GGCTGACATTCGTCTTGCCAA	0.443000													7	90					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660824	40660824	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40660824C>T	ENST00000267889.3	+	8	2598	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	837					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGCTGTGTTTCGTGGAGACCC	0.692000													5	25					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370475	56370475	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56370475C>T	ENST00000301295.6	+	3	2138	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	NLRP4_ENST00000346986.5_Silent_p.L572L|NLRP4_ENST00000587891.1_Silent_p.L497L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	572							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAGTGAACCTCCTCCAAGAAG	0.468000													4	49					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282887	39282887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39282887C>T	ENST00000373229.5	-	6	834	c.821G>A	c.(820-822)gGa>gAa	p.G274E	KCNK16_ENST00000507712.1_Missense_Mutation_p.G162E|KCNK16_ENST00000373227.4_Missense_Mutation_p.G227E|KCNK16_ENST00000425054.2_3'UTR	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	274						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTGGCTCCACAGCCTTG	0.587000													10	73					0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32984776	32984776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:32984776G>A	ENST00000379817.2	-	5	819	c.623C>T	c.(622-624)aCc>aTc	p.T208I	APTX_ENST00000468275.1_Missense_Mutation_p.T208I|APTX_ENST00000309615.3_Missense_Mutation_p.T222I|APTX_ENST00000463596.1_Missense_Mutation_p.T208I|APTX_ENST00000379825.2_Missense_Mutation_p.T222I|APTX_ENST00000436040.2_Intron|APTX_ENST00000379819.1_Missense_Mutation_p.T222I|APTX_ENST00000379813.3_Missense_Mutation_p.T208I|APTX_ENST00000397172.3_Missense_Mutation_p.T150I|APTX_ENST00000476858.1_Missense_Mutation_p.T168I			Q7Z2E3	APTX_HUMAN	aprataxin	222	HIT.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GGAAATGGAGGTCCACGGTAA	0.488000								Editing and processing nucleases					10	39					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927230	53927230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53927230C>T	ENST00000371445.3	+	2	717	c.662C>T	c.(661-663)cCg>cTg	p.P221L	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	221	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						TGCCCGTTCCCGCTGGGCTAC	0.662000													6	86					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76781888	76781888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76781888C>T	ENST00000286719.7	-	17	2550	c.2194G>A	c.(2194-2196)Gat>Aat	p.D732N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	732					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.D732N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGAGGCATCGCCCTCTGGG	0.512000													8	34					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804673	43804673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43804673C>T	ENST00000243924.3	+	2	298	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				ATCCGGTGCGCCATGTTGAAT	0.517000													9	44					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406836	50406836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50406836G>A	ENST00000217086.4	-	2	2297	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	729					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCATCTAAGGAAGCCATCAT	0.612000													9	51					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58137347	58137347	+	Silent	SNP	G	G	A	rs61752323		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:58137347G>A	ENST00000184956.6	-	10	1543	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S	HEATR6_ENST00000585976.1_Silent_p.S509S	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	509							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGATCATTACGGAGAAGGGGG	0.453000													23	96					0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126699	82126699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82126699C>T	ENST00000372199.1	+	6	1124	c.526C>T	c.(526-528)Cct>Tct	p.P176S	DYDC2_ENST00000372198.1_Missense_Mutation_p.P190S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P176S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P176S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P176S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	176							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTCCAAATCTCCTTTTTAGGT	0.408000													5	110					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164060	150164060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150164060C>T	ENST00000307271.3	+	2	848	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	92						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCTCTCTGCTCCCAGCCTCCA	0.507000													6	78					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72189926	72189926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72189926G>A	ENST00000356056.5	-	25	5390	c.4918C>T	c.(4918-4920)Cgc>Tgc	p.R1640C	MYO9A_ENST00000564571.1_Missense_Mutation_p.R1640C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R1260C|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1640C|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1621C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1640	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTGAAATGCGATTATTTGAG	0.428000													9	21					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4905816	4905816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4905816C>T	ENST00000320785.5	+	7	844	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	163	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCCCAAGAGTCGGGGTTCTCT	0.537000													13	141					0	0	1	0	0
CA12	771	broad.mit.edu	37	15	63632593	63632593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63632593C>T	ENST00000178638.3	-	7	1081	c.641G>A	c.(640-642)aGg>aAg	p.R214K	CA12_ENST00000344366.3_Missense_Mutation_p.R214K|CA12_ENST00000422263.2_Missense_Mutation_p.R154K	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	214					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TTCAGCGGTCCTCTCCGGAAG	0.567000													14	36					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33932734	33932734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33932734C>T	ENST00000262325.7	+	4	707	c.154C>T	c.(154-156)Cca>Tca	p.P52S	AP2B1_ENST00000538556.1_5'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.P52S|AP2B1_ENST00000592545.1_Missense_Mutation_p.P52S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P52S|AP2B1_ENST00000312678.8_Missense_Mutation_p.P52S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	52					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)		TTCTCTCTTTCCAGACGTAGT	0.438000													6	60					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122294236	122294236	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122294236G>A	ENST00000543163.1	-	7	646	c.201C>T	c.(199-201)atC>atT	p.I67I	HPD_ENST00000289004.4_Silent_p.I106I|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	106					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TTACCTGCACGATGTAGTCAC	0.582000													8	55					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573155	140573155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140573155C>T	ENST00000239446.4	+	1	1214	c.1030C>T	c.(1030-1032)Ccc>Tcc	p.P344S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		344	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAATCCCCCTGAACT	0.418000													7	72					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93408148	93408148	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93408148G>A	ENST00000267615.6	-	11	1176	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L	ITPK1_ENST00000556603.2_Silent_p.L335L|ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000555495.1_Silent_p.L216L			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	335					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGCCTCAGCAGGGCCACGTCC	0.687000													6	22					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475386	52475386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52475386G>A	ENST00000231721.2	-	7	706	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	236	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTCCTGGTCAGAGTTCTCAGG	0.627000													5	41					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151152	11151152	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11151152G>A	ENST00000544779.1	-	5	567	c.562C>T	c.(562-564)Cga>Tga	p.R188*	EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.R188*|EXOSC10_ENST00000376936.4_Nonsense_Mutation_p.R188*			Q01780	EXOSX_HUMAN	exosome component 10	188					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATCTTCTCTCGAAACTTGAGC	0.388000													35	82					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764666	82764666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:82764666G>A	ENST00000423517.2	-	3	2537	c.2200C>T	c.(2200-2202)Cct>Tct	p.P734S	PCLO_ENST00000333891.8_Missense_Mutation_p.P734S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	680	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTTGGGAGGGGCTGGCTTG	0.527000													11	55					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	G	A	rs138523089	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34008417G>A	ENST00000373381.4	-	58	9356	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3034	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTCATAGACGATAGAGCTGG	0.542000													4	54					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079696	44079696	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44079696G>A	ENST00000262726.7	-	12	1435	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.I242I	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATAACTTTGTGATGATGTTTT	0.348000													6	88					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651029	84651029	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:84651029C>T	ENST00000286744.5	+	21	2873	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	ADAMTSL3_ENST00000567716.1_3'UTR|ADAMTSL3_ENST00000567476.1_Silent_p.I883I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	883						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGAGAAATCAAATCAGAGA	0.373000													8	25					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169825027	169825027	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169825027G>A	ENST00000335742.7	+	15	3424	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	PALLD_ENST00000261509.6_Silent_p.G847G|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Silent_p.G465G|PALLD_ENST00000507735.1_Silent_p.G360G|PALLD_ENST00000505667.1_Silent_p.G864G			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1071	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGATGATGGGAATTATACAA	0.463000									Pancreatic Cancer, Familial Clustering of				8	44					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112991351	112991351	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:112991351C>T	ENST00000495514.1	+	7	1466	c.762C>T	c.(760-762)gcC>gcT	p.A254A	BOC_ENST00000355385.3_Silent_p.A254A|BOC_ENST00000273395.4_Silent_p.A254A			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	254	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGTGTGTGGCCAGTGGAATCC	0.612000													9	151					0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3784541	3784541	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3784541T>C	ENST00000378209.3	+	4	757	c.434T>C	c.(433-435)tTg>tCg	p.L145S	DFFB_ENST00000338895.3_Missense_Mutation_p.L145S	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	145					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTGCAGGCTTGGAGTCCCGA	0.592000													27	231					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086030	100086030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100086030G>A	ENST00000423930.1	+	4	845	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	NYAP1_ENST00000454988.1_Missense_Mutation_p.R172Q|NYAP1_ENST00000300179.2_Missense_Mutation_p.R229Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	229																	GGAGGAGGACGAAGTGGAGGA	0.647000													9	53					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1325680	1325680	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1325680G>A	ENST00000400809.3	-	8	941	c.936C>T	c.(934-936)gcC>gcT	p.A312A	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Silent_p.A90A	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	312					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ACAGGCCCCGGGCTTGGGCCT	0.572000													23	96					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7808467	7808467	+	Silent	SNP	C	C	T	rs146189491		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7808467C>T	ENST00000380358.4	+	26	4300	c.4299C>T	c.(4297-4299)ttC>ttT	p.F1433F	CHD3_ENST00000330494.7_Silent_p.F1374F|CHD3_ENST00000358181.4_Silent_p.F1374F	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1374					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGACTTCGATGAACGTC	0.512000													5	64					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96922783	96922783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96922783G>A	ENST00000267584.4	+	11	1242	c.1198G>A	c.(1198-1200)Gat>Aat	p.D400N		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	400	Adenylate kinase.				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)		CCAACTGAAGGATGTCATTTC	0.378000													8	44					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65261237	65261237	+	Silent	SNP	C	C	A	rs141777371	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65261237C>A	ENST00000389722.3	-	12	1796	c.1743G>T	c.(1741-1743)ggG>ggT	p.G581G	SPTB_ENST00000556626.1_Silent_p.G581G|SPTB_ENST00000542895.1_Silent_p.G581G|SPTB_ENST00000389720.3_Silent_p.G581G|SPTB_ENST00000389721.5_Silent_p.G581G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	581					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)		TCACTTTGTCCCCTTGGATGG	0.542000													17	155					3.52763e-06	3.57976e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152276039	152276039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152276039C>T	ENST00000368799.1	-	3	11358	c.11323G>A	c.(11323-11325)Gag>Aag	p.E3775K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3775	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3775*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGATTGCTCGTGGTAGGAT	0.597000									Ichthyosis				22	393					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12434237	12434237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12434237G>A	ENST00000397026.2	+	6	922	c.539G>A	c.(538-540)gGg>gAg	p.G180E	PPARG_ENST00000397010.2_Missense_Mutation_p.G174E|PPARG_ENST00000397012.2_Missense_Mutation_p.G174E|PPARG_ENST00000287820.6_Missense_Mutation_p.G202E|PPARG_ENST00000539812.1_Missense_Mutation_p.G172E|PPARG_ENST00000397015.2_Missense_Mutation_p.G174E|PPARG_ENST00000309576.6_Missense_Mutation_p.G174E|PPARG_ENST00000397000.1_Missense_Mutation_p.G174E			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	202					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTTGCAGTGGGGATGTCTCAT	0.378000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						6	56					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572533	56572533	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56572533G>A	ENST00000323456.5	-	16	3094	c.2970C>T	c.(2968-2970)gtC>gtT	p.V990V	MTMR4_ENST00000579925.1_Silent_p.V933V	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	990						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGTGCTAGAGACTTGCTTTG	0.498000													22	140					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416420	48416420	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48416420G>A	ENST00000249598.1	-	1	433	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	92					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CTGTTGTACAGGTCAATCATG	0.572000													13	70					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69458123	69458123	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69458123C>T	ENST00000374521.3	+	5	563	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	174					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTGGCAACCTCGTGGGCATTG	0.572000													5	31					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54818764	54818764	+	Silent	SNP	G	G	A	rs145397246		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54818764G>A	ENST00000301219.3	-	7	953	c.834C>T	c.(832-834)gtC>gtT	p.V278V	LILRA5_ENST00000346508.3_Silent_p.V266V	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	278					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAATCCCAAGGACCACCAGGA	0.532000													9	61					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975869	94975869	+	Missense_Mutation	SNP	C	C	T	rs144591334		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94975869C>T	ENST00000261226.4	-	2	655	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TMCC3_ENST00000551457.1_Missense_Mutation_p.R144Q	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	175						integral to membrane		p.R175Q(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGGGGCAGTTCGAGATTTCAC	0.498000													5	97					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75887433	75887433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:75887433C>T	ENST00000322507.8	-	12	2692	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.E795K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E795K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	795	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAGAAATATTCAGGAATTACA	0.433000													9	117					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824203	54824203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:54824203C>T	ENST00000243911.2	+	1	416	c.304C>T	c.(304-306)Cac>Tac	p.H102Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGCCATCGTCCACAGCGACTA	0.557000													8	34					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181686297	181686297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181686297G>A	ENST00000526775.1	+	11	1549	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	CACNA1E_ENST00000358338.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E462K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E413K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E462K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E69K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E462K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	462					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGGCACAAGGAAAGGCTTCT	0.512000													9	67					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888006	18888006	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18888006C>T	ENST00000338797.6	+	15	1792	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	CRTC1_ENST00000321949.8_Silent_p.L573L|CRTC1_ENST00000601916.1_Silent_p.L331L|CRTC1_ENST00000594658.1_Silent_p.L532L	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	573					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCCAGCCTCTCTAAAGAAC	0.632000													8	71					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78073553	78073553	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78073553C>T	ENST00000397545.4	+	20	3435	c.3408C>T	c.(3406-3408)ctC>ctT	p.L1136L		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1136					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAACAAGCTCGAGTCACCAG	0.602000													5	31					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62219479	62219479	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62219479G>A	ENST00000261517.5	-	52	6400	c.6327C>T	c.(6325-6327)atC>atT	p.I2109I	VPS13C_ENST00000395896.4_Silent_p.I2109I|VPS13C_ENST00000249837.3_Silent_p.I2066I|VPS13C_ENST00000395898.3_Silent_p.I2066I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2109					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGGATCTGTGATCATGGCCT	0.423000													42	103					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36290136	36290136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36290136C>T	ENST00000437635.2	-	9	1732	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	519										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCGTGTGGCCTCTAGCCTGG	0.582000													12	86					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3678647	3678647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:3678647C>T	ENST00000404826.2	+	3	609	c.470C>T	c.(469-471)cCa>cTa	p.P157L	SDK1_ENST00000389531.3_Missense_Mutation_p.P157L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	157	Ig-like C2-type 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TACATTATTCCATCTTTGCAG	0.403000													3	26					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973909	117973909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117973909C>T	ENST00000534111.1	+	4	510	c.245C>T	c.(244-246)cCc>cTc	p.P82L	TMPRSS4_ENST00000437212.3_Missense_Mutation_p.P84L|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.P44L|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.P84L	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	84	LDL-receptor class A.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTGGACTGTCCCTTGGGGGAG	0.587000													14	145					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159644573	159644573	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159644573G>A	ENST00000297267.9	+	7	980	c.780G>A	c.(778-780)ttG>ttA	p.L260L	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Silent_p.L260L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	260	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGGACGAATTGGATGTACCTG	0.478000													6	23					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801321	3801321	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3801321C>T	ENST00000225538.3	-	11	1390	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	372					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GCCCCATGTCCTCAGCGTATT	0.617000													9	100					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208544	106208544	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106208544C>T	ENST00000390548.2	-	0	355																											TGACGGTCCCCCCAGGAGTTC	0.632000													11	89					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909783	25909783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:25909783G>A	ENST00000398988.3	+	5	666	c.221G>A	c.(220-222)gGg>gAg	p.G74E	KSR1_ENST00000268763.6_Missense_Mutation_p.G74E|KSR1_ENST00000319524.6_Missense_Mutation_p.G211E|KSR1_ENST00000509603.2_Missense_Mutation_p.G211E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	209					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGGCCCCCAGGGAGCTCCCAG	0.672000													4	50					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136323	21136323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21136323G>A	ENST00000269228.5	-	8	1764	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	NPC1_ENST00000412552.2_Missense_Mutation_p.R154W|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	404			R -> P (in NPC1).|R -> Q (in NPC1).|R -> W (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTCCGTCCGGAAGAAAGGC	0.562000													8	42					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57967172	57967172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57967172G>A	ENST00000574161.1	+	12	1329	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	GCOM1_ENST00000380568.3_Missense_Mutation_p.E404K|GCOM1_ENST00000396180.1_Missense_Mutation_p.E373K|MYZAP_ENST00000267853.5_Missense_Mutation_p.E404K|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.E345K|MYZAP_ENST00000380565.4_Missense_Mutation_p.E376K|GCOM1_ENST00000380560.2_Missense_Mutation_p.E335K|GCOM1_ENST00000380569.2_Missense_Mutation_p.E404K|GCOM1_ENST00000587652.1_Missense_Mutation_p.E404K|GCOM1_ENST00000572390.1_Missense_Mutation_p.E376K	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		404					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CCAGAATAATGAACTACAAAG	0.383000													12	24					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836173	47836173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47836173C>T	ENST00000359568.5	+	30	6448	c.6341C>T	c.(6340-6342)tCc>tTc	p.S2114F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTGATGATTCCTGTGACGGA	0.507000													4	39					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39761753	39761753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39761753G>A	ENST00000395670.3	-	4	951	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	KIF21A_ENST00000541463.2_Missense_Mutation_p.H178Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.H178Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H178Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.H178Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	178	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H178N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GAATCTTCATGAATTCTTATA	0.299000													4	51					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947882	35947882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35947882C>T	ENST00000216127.4	+	3	1246	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	202	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CGCCCTGCATCGCAAGATCTC	0.612000													5	41					0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327659	63327659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63327659G>A	ENST00000255695.1	-	2	74	c.16C>T	c.(16-18)Cca>Tca	p.P6S		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	6					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCGGTCTTGGTCTGGCCTGC	0.557000													9	113					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278019	74278019	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74278019A>T	ENST00000262765.5	-	8	3870	c.3691T>A	c.(3691-3693)Tat>Aat	p.Y1231N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1231							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTTGCTCATAGCGCCGCACC	0.642000													7	38					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1556245	1556245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1556245C>T	ENST00000262319.6	+	17	2320	c.2041C>T	c.(2041-2043)Ccg>Tcg	p.P681S	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	681						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGGGTGGCCCGAGGCAGGG	0.652000													8	86					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151337	158151337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151337G>A	ENST00000368171.3	+	3	653	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	52					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGCTGGGGGAGCTGCAGAC	0.652000													16	210					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793153	53793153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53793153C>T	ENST00000426466.1	-	1	1722	c.475G>A	c.(475-477)Gac>Aac	p.D159N		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	159					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTGTAGTGTCTTTCTGAGCG	0.418000													12	74					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817214	77817214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77817214C>T	ENST00000334306.2	-	1	1788	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	597																	CACTCATGCTCCCTGGCATCT	0.567000													10	41					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39169877	39169877	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39169877C>T	ENST00000301819.6	+	13	1779	c.1602C>T	c.(1600-1602)gcC>gcT	p.A534A	TTC21A_ENST00000440121.1_Silent_p.A485A|TTC21A_ENST00000431162.2_Silent_p.A533A	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	533							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACCCCGCCTCCGTGGATG	0.547000													4	49					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819666	17819666	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:17819666G>C	ENST00000545871.1	-	3	925	c.465C>G	c.(463-465)ctC>ctG	p.L155L	RAI2_ENST00000451717.1_Silent_p.L155L|RAI2_ENST00000415486.3_Silent_p.L105L|RAI2_ENST00000360011.1_Silent_p.L155L|RAI2_ENST00000331511.1_Silent_p.L155L	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	155					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTCCCTGGAAGAGGTTGTTGT	0.647000													20	37					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198682180	198682180	+	Missense_Mutation	SNP	C	C	T	rs142046206		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:198682180C>T	ENST00000367376.2	+	12	1435	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	PTPRC_ENST00000442510.2_Missense_Mutation_p.L424F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L374F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L261F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L263F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	422	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAATTTTACCCTCTGTTATAT	0.333000													6	69					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10543375	10543375	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10543375G>A	ENST00000583535.1	-	22	2707	c.2620C>T	c.(2620-2622)Cta>Tta	p.L874L	MYH3_ENST00000226209.7_Silent_p.L874L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	874					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTTCCTCTAGCTCCTTCCTT	0.433000													7	61					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41450608	41450608	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:41450608C>T	ENST00000372621.4	+	3	790	c.282C>T	c.(280-282)taC>taT	p.Y94Y	CTPS1_ENST00000372616.1_Silent_p.Y94Y|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000543104.1_Silent_p.Y101Y	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	94					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GAAAGATATACCAGTATGTCA	0.423000													14	92					0	0	1	0	0
TMEM255A	55026	broad.mit.edu	37	X	119410842	119410842	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:119410842G>A	ENST00000371369.4	-	7	799	c.573C>T	c.(571-573)atC>atT	p.I191I	TMEM255A_ENST00000309720.5_Silent_p.I215I|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Silent_p.I51I	NM_001104544.1	NP_001098014.1			transmembrane protein 255A																		AGAGGTGGATGATATCTTGGC	0.557000													17	29					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543313	182543313	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182543313G>T	ENST00000295108.3	-	2	732	c.275C>A	c.(274-276)aCt>aAt	p.T92N	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	92					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCGAGCCTTAGTCATCTTCTT	0.562000													62	367					9.65139e-37	9.82892e-37	1	1	0
SLCO1B7	338821	broad.mit.edu	37	12	21172237	21172237	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21172237G>A	ENST00000421593.2	+	2	141	c.141G>A	c.(139-141)ccG>ccA	p.P47P	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)									p.P47P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACACAGACCGAAGTTAATTG	0.328000													5	22					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279190	51279190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51279190C>T	ENST00000551456.1	+	4	859	c.814C>T	c.(814-816)Cct>Tct	p.P272S	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	271	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AAGTAATTTTCCTTTAAAATA	0.358000													5	70					0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395635	67395635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67395635G>A	ENST00000376693.2	-	4	502	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	165	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						AGTGTGTAGCGGAAGTGGCCA	0.612000													11	68					0	0	1	0	0
TMEM41B	440026	broad.mit.edu	37	11	9308057	9308057	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9308057G>A	ENST00000528080.1	-	6	989	c.651C>T	c.(649-651)atC>atT	p.I217I	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	217						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		CAGGAGATGTGATATTAATAA	0.338000													11	106					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37268428	37268428	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37268428G>A	ENST00000397147.4	+	7	772	c.588G>A	c.(586-588)gtG>gtA	p.V196V	NCF4_ENST00000248899.6_Silent_p.V196V	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	196	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGGAGATGTGATCTTCCTCC	0.473000													20	83					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664516	183664516	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183664516C>T	ENST00000511685.1	+	19	3696	c.3573C>T	c.(3571-3573)ttC>ttT	p.F1191F	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.F1191F					teneurin transmembrane protein 3																		TAGGCGATTTCAACTATGTGC	0.468000													7	24					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41548061	41548061	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41548061C>A	ENST00000396942.1	-	32	3998	c.3915G>T	c.(3913-3915)aaG>aaT	p.K1305N	ANK1_ENST00000379758.2_Missense_Mutation_p.K1305N|ANK1_ENST00000396945.1_Missense_Mutation_p.K1305N|ANK1_ENST00000289734.7_Missense_Mutation_p.K1305N|ANK1_ENST00000347528.4_Missense_Mutation_p.K1305N|ANK1_ENST00000352337.4_Missense_Mutation_p.K1305N|ANK1_ENST00000265709.8_Missense_Mutation_p.K1346N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1305					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCAGCTTTCTTCACAGGCA	0.557000													6	102					0.0293803	0.0296125	1	1	0
PADI1	29943	broad.mit.edu	37	1	17548826	17548826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17548826G>A	ENST00000375471.4	+	2	226	c.134G>A	c.(133-135)aGc>aAc	p.S45N		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	45					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GTCTCTGGAAGCTCCGGGGTG	0.567000													29	77					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17714998	17714998	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17714998G>A	ENST00000434762.2	+	0	852							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCATCTGCCGAATTCTCAGG	0.557000													5	23					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390604	24390604	+	Missense_Mutation	SNP	C	C	T	rs142799431	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24390604C>T	ENST00000330966.7	-	30	3751	c.3589G>A	c.(3589-3591)Gat>Aat	p.D1197N	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D87N|MYOM3_ENST00000374434.3_Missense_Mutation_p.D1194N			Q5VTT5	MYOM3_HUMAN	myomesin 3	1194	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCCCCTCGATCGTCAGAAACC	0.552000													5	77					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55408856	55408856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:55408856G>A	ENST00000401408.1	-	10	1376	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.P222L|CLHC1_ENST00000407122.1_Missense_Mutation_p.P344L|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		TAATGGAAGAGGCTTTCCTCT	0.348000													4	11					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210236	100210236	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100210236G>A	ENST00000317233.4	-	14	2122	c.1887C>T	c.(1885-1887)ccC>ccT	p.P629P	AFF3_ENST00000409236.1_Silent_p.P629P|AFF3_ENST00000409579.1_Silent_p.P654P|AFF3_ENST00000356421.2_Silent_p.P654P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	629					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTTGCCACAGGGCCTGGTTT	0.721000													10	57					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25150021	25150021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25150021C>T	ENST00000332271.5	-	8	1353	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	PIWIL3_ENST00000533313.1_Missense_Mutation_p.E204K|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E204K	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	313	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTAGTTACTTCCTCTCGGATG	0.428000													4	60					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76780392	76780392	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:76780392C>T	ENST00000287239.4	+	14	3171	c.2682C>T	c.(2680-2682)ctC>ctT	p.L894L	KAT6B_ENST00000372725.1_Silent_p.L602L|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372714.1_Silent_p.L602L|KAT6B_ENST00000372724.1_Silent_p.L602L|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372711.1_Silent_p.L711L	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	894	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AAAAGCCTCTCTCCGATCTGG	0.493000													3	22					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724158	30724158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:30724158C>T	ENST00000361762.2	+	1	2122	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	PCDH7_ENST00000543491.1_Missense_Mutation_p.R372W	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	372	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGTCCTGCACCGGATCGACCG	0.677000													8	33					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877860	200877860	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200877860G>A	ENST00000367342.4	+	7	1032	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	C1orf106_ENST00000413687.2_Missense_Mutation_p.E193K	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	278										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TCCTGCAGAGGAATCCCAAGT	0.607000													15	149					0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24881283	24881283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:24881283C>T	ENST00000347898.3	+	4	891	c.269C>T	c.(268-270)tCa>tTa	p.S90L	SLC5A11_ENST00000539472.1_Missense_Mutation_p.S26L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.S90L|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.S26L|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.S90L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.S26L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.S26L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	90					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGGCAGGGTCAGGTGCTGCT	0.468000													6	62					0	0	1	0	0
LCK	3932	broad.mit.edu	37	1	32751115	32751115	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32751115G>A	ENST00000333070.4	+	13	1518	c.1417_splice	c.e13-1	p.G473_splice	LCK_ENST00000336890.5_Splice_Site_p.G443_splice|LCK_ENST00000373564.3_Splice_Site_p.G450_splice	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	443	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CAACCCGTAGGGATGACCAAC	0.547000			T	TRB@	T-ALL								14	98					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94097238	94097238	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94097238C>T	ENST00000553484.1	+	32	5920	c.5766C>T	c.(5764-5766)agC>agT	p.S1922S	UNC79_ENST00000555664.1_Silent_p.S1900S|UNC79_ENST00000256339.4_Silent_p.S1723S|UNC79_ENST00000393151.2_Silent_p.S1900S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1900						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAACAAGTAGCCATTCCTCAA	0.393000													5	27					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769663	13769663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13769663C>T	ENST00000265104.4	-	57	9771	c.9667G>A	c.(9667-9669)Gaa>Aaa	p.E3223K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3223	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTTCCAGTTCTTTACTCAAG	0.423000									Kartagener syndrome				7	52					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124351025	124351025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124351025C>T	ENST00000368909.3	+	19	2274	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S713L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S713L|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.S723L|DMBT1_ENST00000330163.4_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	723					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTACCTCCATCGACAGTAGGT	0.453000													19	242					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132071590	132071590	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:132071590G>A	ENST00000336375.5	+	9	981	c.891G>A	c.(889-891)caG>caA	p.Q297Q	ACPP_ENST00000351273.7_Silent_p.Q297Q|ACPP_ENST00000475741.1_Silent_p.Q264Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	297						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTGGCCTACAGATGGCGCTAG	0.433000													6	23					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441590	125441590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125441590G>A	ENST00000308736.2	-	17	2347	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	DHX37_ENST00000544745.1_Missense_Mutation_p.P537L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	750							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGCTTTCTGGGGCGGTTGCAG	0.632000													4	74					0	0	1	0	0
DCN	1634	broad.mit.edu	37	12	91552125	91552125	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:91552125G>A	ENST00000052754.5	-	4	987	c.486C>T	c.(484-486)atC>atT	p.I162I	DCN_ENST00000552962.1_Silent_p.I162I|DCN_ENST00000393155.1_Silent_p.I162I|DCN_ENST00000547568.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	162					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GCACTTTGGTGATCTCATTCT	0.383000													7	109					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133660	22133660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22133660C>T	ENST00000408935.1	+	1	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GGCGTATGATCGTTACGTGGC	0.468000													5	64					0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075107	106075107	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:106075107G>A	ENST00000278071.2	-	3	1155	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	ITPRIP_ENST00000358187.2_Silent_p.L235L|ITPRIP_ENST00000337478.1_Silent_p.L235L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	235						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGCGATCCAGGGGCACTGAG	0.652000													7	59					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3129189	3129189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3129189C>T	ENST00000355072.5	+	12	1746	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	534					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCACAGCTCCAGCCAGGTC	0.607000													4	32					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940554	21940554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21940554G>A	ENST00000542643.2	-	9	622	c.320C>T	c.(319-321)gCt>gTt	p.A107V	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A107V|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A138V|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A171V|RAP1GAP_ENST00000374757.3_5'UTR|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A107V	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	107			A -> T (in dbSNP:rs2275363).		regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCCGAGGGCAGCGTCCAGTGA	0.597000													6	17					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967895	54967895	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:54967895C>T	ENST00000326902.2	+	2	1035	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	241						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TTACCTGAACCTGTCGGAGAA	0.547000													7	136					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167617384	167617384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167617384C>T	ENST00000519204.1	+	13	2367	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	TENM2_ENST00000545108.1_Missense_Mutation_p.S871L|TENM2_ENST00000403607.2_Missense_Mutation_p.S695L|TENM2_ENST00000520394.1_Missense_Mutation_p.S639L|TENM2_ENST00000518659.1_Missense_Mutation_p.S871L					teneurin transmembrane protein 2																		TGCCTGCAGTCAGCCTGTCAG	0.582000													4	15					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139283019	139283019	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139283019G>A	ENST00000298532.2	-	10	1368	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	334	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AATTTCTGCAGGCACTGGAAG	0.592000													12	53					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1645353	1645353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:1645353C>T	ENST00000421627.2	+	11	2731	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	945					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGGACCTGGCCGGCTACTGG	0.647000													5	39					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276742	42276742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42276742C>T	ENST00000399518.3	-	19	2764	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E731K	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	748	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTGAGATTTTCATTCTCATCT	0.498000													4	48					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21048471	21048471	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21048471G>A	ENST00000375031.1	-	9	1458	c.834C>T	c.(832-834)ttC>ttT	p.F278F	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.F362F	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	278	SH2.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAGGCTGGGGAACTCTGCCG	0.662000													6	26					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441515	11441515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11441515C>T	ENST00000423059.3	-	23	4569	c.4318G>A	c.(4318-4320)Gga>Aga	p.G1440R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1440	TSP type-1 15.					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)		ACCTGTATTCCACCAAAGCCT	0.438000										HNSCC(18;0.044)			5	43					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16242646	16242646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16242646C>T	ENST00000375759.3	+	6	1471	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	423					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAATGAATTTCGCCCCTTGGA	0.368000													14	35					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31590869	31590869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31590869C>T	ENST00000379416.3	-	20	2203	c.2155G>A	c.(2155-2157)Gac>Aac	p.D719N		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	719					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTTTAGGTCCCCTTTCTCG	0.458000													6	122					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542672	14542672	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14542672G>C	ENST00000358970.5	-	1	473	c.474C>G	c.(472-474)atC>atG	p.I158M	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	158										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGAGCATGACGATGAGATCCT	0.582000													18	126					0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847573	131847573	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:131847573T>A	ENST00000372546.4	+	4	382	c.350T>A	c.(349-351)tTc>tAc	p.F117Y	DOLPP1_ENST00000406974.3_Missense_Mutation_p.F117Y|DOLPP1_ENST00000540102.1_Missense_Mutation_p.F19Y	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1	117					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TCCTTCCTTTTCCTGTATTTA	0.562000													7	99					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:82545811G>A	ENST00000423517.2	-	7	11828	c.11491C>T	c.(11491-11493)Cgt>Tgt	p.R3831C	PCLO_ENST00000333891.8_Missense_Mutation_p.R3831C|PCLO_ENST00000437081.1_Missense_Mutation_p.R551C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3831C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTAATCACGATCCTCAGCT	0.473000													5	7					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49695396	49695396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49695396C>T	ENST00000296452.4	+	5	8521	c.8407C>T	c.(8407-8409)Cct>Tct	p.P2803S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2803					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCCTGTCCCCTCACCGGCT	0.622000													6	60					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25301110	25301110	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25301110G>T	ENST00000400358.4	+	21	2831	c.2774G>T	c.(2773-2775)gGc>gTc	p.G925V	SGSM1_ENST00000400359.4_Missense_Mutation_p.G980V	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	980	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TATGTCCAGGGCATGTGTGAT	0.552000													23	227					6.12954e-19	6.2405e-19	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16822587	16822587	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:16822587C>T	ENST00000355661.3	-	17	2353	c.2343G>A	c.(2341-2343)ttG>ttA	p.L781L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L781L|PLEKHA7_ENST00000448080.2_Silent_p.L781L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	781					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CATCATTCTCCAACTTCAGGT	0.498000													17	108					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591773	70591773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70591773G>A	ENST00000260126.3	-	8	2570	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R567C|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R622C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	622						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATAACCACACGGAGCTGACTT	0.443000													4	98					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200017564	200017564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200017564C>T	ENST00000367362.3	+	5	974	c.728C>T	c.(727-729)tCc>tTc	p.S243F	NR5A2_ENST00000544748.1_Missense_Mutation_p.S171F|NR5A2_ENST00000236914.3_Missense_Mutation_p.S197F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	243					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTTGTAACATCCCCCATTAGC	0.527000													12	80					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905618	144905618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:144905618G>A	ENST00000370490.1	+	1	5930	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	SLITRK2_ENST00000434188.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E559K|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E559K			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	559	LRRCT 2.					integral to membrane		p.E559K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGACTTGCGAATCTCCTGC	0.498000													4	24					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773448	151773448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151773448G>A	ENST00000368820.3	-	2	2670	c.1733C>T	c.(1732-1734)tCt>tTt	p.S578F		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	578						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTATCCCCAGAGGGCCGAGG	0.552000													7	79					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32944418	32944418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32944418C>T	ENST00000395289.2	+	7	2506	c.905C>T	c.(904-906)cCt>cTt	p.P302L	BRD2_ENST00000374831.4_Missense_Mutation_p.P302L|BRD2_ENST00000395287.1_Missense_Mutation_p.P302L|BRD2_ENST00000374825.4_Missense_Mutation_p.P302L|BRD2_ENST00000443797.2_Missense_Mutation_p.P182L|BRD2_ENST00000449085.2_Missense_Mutation_p.P255L			P25440	BRD2_HUMAN	bromodomain containing 2	302					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCAGCTAGCCCTCCTGGGAGT	0.547000													14	58					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74082214	74082214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74082214G>A	ENST00000607838.1	-	14	1605	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	EXOC7_ENST00000467929.2_Missense_Mutation_p.S453L|EXOC7_ENST00000405575.4_Missense_Mutation_p.S504L|EXOC7_ENST00000589210.1_Missense_Mutation_p.S481L|EXOC7_ENST00000411744.2_Missense_Mutation_p.S473L|EXOC7_ENST00000335146.7_Missense_Mutation_p.S532L|EXOC7_ENST00000332065.5_Missense_Mutation_p.S450L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	532					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTGGTGGCCGAAGAGCTGGT	0.602000													8	73					0	0	1	0	0
RAB41	347517	broad.mit.edu	37	X	69504464	69504464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69504464G>A	ENST00000374473.2	+	8	686	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RAB41_ENST00000276066.4_Missense_Mutation_p.E213K			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	214					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						GGAATCCTTCGAGGAGTCAGG	0.463000													11	21					0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270045	21270045	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21270045C>T	ENST00000397967.4	-	2	689	c.183G>A	c.(181-183)cgG>cgA	p.R61R	RNASE1_ENST00000555698.1_Silent_p.R21R|RNASE1_ENST00000340900.3_Silent_p.R61R|RNASE1_ENST00000412779.2_Silent_p.R61R|RNASE1_ENST00000397970.4_Silent_p.R61R	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	61						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GTGTCATATTCCGGCGCCTCA	0.542000													13	52					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246579	65246579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65246579C>T	ENST00000389722.3	-	20	4390	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	SPTB_ENST00000556626.1_Missense_Mutation_p.G1446E|SPTB_ENST00000542895.1_Missense_Mutation_p.G1446E|SPTB_ENST00000389720.3_Missense_Mutation_p.G1446E|SPTB_ENST00000389721.5_Missense_Mutation_p.G1446E	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1446					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)		TCCCTCCTCTCCCATTGAAGG	0.577000													8	136					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99279639	99279639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:99279639G>A	ENST00000393487.1	-	5	720	c.407C>T	c.(406-408)tCa>tTa	p.S136L	MGAT4A_ENST00000264968.2_Missense_Mutation_p.S136L|MGAT4A_ENST00000414521.2_Missense_Mutation_p.S8L|MGAT4A_ENST00000409391.1_Missense_Mutation_p.S136L|MGAT4A_ENST00000461884.1_5'UTR	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	136					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CATGACTATTGAAACTGGaaa	0.313000													5	89					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378561	19378561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:19378561C>T	ENST00000550708.1	+	1	1040	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGGAAGTTCCAACATAATC	0.358000													3	18					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535517	166535517	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166535517T>C	ENST00000314499.7	+	7	1388	c.1012T>C	c.(1012-1014)Tgc>Cgc	p.C338R	CSRNP3_ENST00000409420.1_Missense_Mutation_p.C370R|CSRNP3_ENST00000342316.4_Missense_Mutation_p.C338R	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	338	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAATTAGATTGCCAAGGAGA	0.517000													3	25					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686688	78686688	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:78686688A>T	ENST00000545128.1	+	7	1306	c.768A>T	c.(766-768)aaA>aaT	p.K256N	PCSK5_ENST00000376752.4_Missense_Mutation_p.K256N|PCSK5_ENST00000376767.3_Missense_Mutation_p.K256N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	256	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGAAGCAAAATCAGTTAGCT	0.557000													25	96					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57839673	57839673	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57839673C>T	ENST00000281282.5	+	19	3972	c.3894C>T	c.(3892-3894)gtC>gtT	p.V1298V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1298	Tail.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACAGCACCGTCGCCAGCCAGA	0.592000													5	105					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186901937	186901937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186901937G>A	ENST00000367466.3	+	8	753	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.A141T|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	201	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGTTTCCGAGCCATGGTGGG	0.458000													3	23					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316208	72316208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:72316208G>A	ENST00000340595.3	+	7	1220	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D386N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D386N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.D386N|SLC4A4_ENST00000512686.1_Missense_Mutation_p.D342N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	386			R -> S (in pRTA-OA; mistargeting and altered function).			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGGGAATGGGATCCAGCAAT	0.433000													3	11					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060743	111060743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111060743C>T	ENST00000369771.2	-	1	1054	c.667G>A	c.(667-669)Gtg>Atg	p.V223M		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	223						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACAACCAACACCGAGACCACG	0.552000													9	41					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108047	95108047	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95108047C>T	ENST00000469935.1	+	0	652					NR_015340.1																						GGCAGGGTCCCCGGCTCCTCC	0.627000													13	89					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55229227	55229227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55229227C>T	ENST00000275493.2	+	13	1711	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	EGFR_ENST00000342916.3_Missense_Mutation_p.P512S|EGFR_ENST00000455089.1_Missense_Mutation_p.P467S|EGFR_ENST00000442591.1_Missense_Mutation_p.P512S|EGFR_ENST00000454757.2_Missense_Mutation_p.P459S|EGFR_ENST00000344576.2_Missense_Mutation_p.P512S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	512					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTGTGCTCCCCCGAGGGCTG	0.662000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	108					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931175	94931175	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94931175T>G	ENST00000337425.5	-	4	1047	c.973A>C	c.(973-975)Atc>Ctc	p.I325L	SERPINA9_ENST00000380365.3_Missense_Mutation_p.I307L|SERPINA9_ENST00000298845.7_Missense_Mutation_p.I225L|SERPINA9_ENST00000546329.1_Missense_Mutation_p.I289L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.I176L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.I227L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	307					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AATCTGGGGATGAACACCTCT	0.458000													5	33					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266316	3266316	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3266316G>A	ENST00000576468.1	+	0	418																											AAGATGGAAAGCCTTCTCCAC	0.527000													4	22					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855815	23855815	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23855815C>T	ENST00000405093.3	-	33	4738	c.4668G>A	c.(4666-4668)gaG>gaA	p.E1556E	MYH6_ENST00000356287.3_Silent_p.E1556E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1556					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTGCCCTCCTCGTGCTCCA	0.632000													12	145					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595678	140595678	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595678C>T	ENST00000341948.4	+	1	2170	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCACGTGCTCCTGGTGGACG	0.711000													8	82					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474912	32474912	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32474912T>C	ENST00000404025.2	-	5	2509	c.2021A>G	c.(2020-2022)aAg>aGg	p.K674R	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.K674R|NLRC4_ENST00000360906.5_Missense_Mutation_p.K674R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	674					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GATATCTTGCTTATTCAACTT	0.473000													4	115					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697039	169697039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169697039G>A	ENST00000333360.7	-	9	1448	c.1309C>T	c.(1309-1311)Ccg>Tcg	p.P437S	SELE_ENST00000367776.1_Missense_Mutation_p.P374S|SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.P312S|SELE_ENST00000367781.4_Missense_Mutation_p.P374S|SELE_ENST00000367782.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.P312S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	437	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AAACCCTTCGGGGGCTGGTGG	0.493000													4	36					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362946	175362946	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175362946G>A	ENST00000367674.1	-	6	2034	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	TNR_ENST00000263525.2_Silent_p.F442F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	442	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCACCCATCGAAGGAAAATG	0.463000													25	143					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907576	12907576	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12907576C>T	ENST00000317869.6	-	2	792	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTGTTTTATCTGGGTCAACT	0.428000													44	126					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528811	20528811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20528811G>A	ENST00000315683.1	+	1	608	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATTGCTGACAGCGGGCTGCTC	0.433000													3	18					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210314	100210314	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:100210314G>A	ENST00000317233.4	-	14	2044	c.1809C>T	c.(1807-1809)caC>caT	p.H603H	AFF3_ENST00000409236.1_Silent_p.H603H|AFF3_ENST00000409579.1_Silent_p.H628H|AFF3_ENST00000356421.2_Silent_p.H628H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	603					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTCGGGCCGGTGGCAGTTGG	0.761000													7	13					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11097823	11097823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11097823G>A	ENST00000400897.3	-	7	950	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	312	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TTGCACAGGTGAAACGTGGCC	0.502000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	92					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55330035	55330035	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55330035C>T	ENST00000391728.4	+	3	369	c.336C>T	c.(334-336)ccC>ccT	p.P112P	KIR3DL1_ENST00000326542.7_Silent_p.P112P|KIR3DL1_ENST00000402254.2_Silent_p.P112P|KIR3DL1_ENST00000541392.1_Silent_p.P112P|KIR3DL1_ENST00000538269.1_Silent_p.P112P|KIR3DL1_ENST00000358178.4_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGCAACCCCGTGGTGATCA	0.607000													5	93					0	0	1	0	0
NLK	51701	broad.mit.edu	37	17	26495639	26495639	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26495639C>T	ENST00000407008.3	+	6	1721	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	335	Protein kinase.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGCAGAACTACTAGGACGAAG	0.408000													8	69					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701193	81701193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:81701193G>A	ENST00000372292.3	-	6	668	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	210	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTGTCTCCAGGAATGCCTTTG	0.617000													4	66					0	0	1	0	0
TM2D1	83941	broad.mit.edu	37	1	62190767	62190767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62190767G>A	ENST00000371177.2	-	1	38	c.26C>T	c.(25-27)cCg>cTg	p.P9L	TM2D1_ENST00000371180.2_Missense_Mutation_p.P71L|TM2D1_ENST00000606498.1_Missense_Mutation_p.P9L|TM2D1_ENST00000294613.5_Missense_Mutation_p.P9L			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	9					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CGGAGCAGACGGACCAGACGG	0.687000													5	90					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408933	105408933	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105408933G>A	ENST00000333244.5	-	7	12974	c.12855C>T	c.(12853-12855)tcC>tcT	p.S4285S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4285						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)			TGTCGGCTAGGGACAGGTCAC	0.612000													28	254					0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275548	71275548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71275548C>T	ENST00000399575.2	+	3	677	c.503C>T	c.(502-504)tCc>tTc	p.S168F	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	168	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCAGCACTTCCACAAAACCC	0.512000													4	39					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50558962	50558962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50558962C>T	ENST00000262794.5	+	10	1569	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.P476S|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P496S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P496S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	496					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AAGTTTTCTTCCCCAATATCC	0.363000													11	70					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51649261	51649261	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51649261C>T	ENST00000317643.6	+	4	979	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Silent_p.L211L	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	304	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAAACCCTCTGGTACTGGA	0.592000													7	83					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23853900	23853900	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23853900C>T	ENST00000405093.3	-	36	5386	c.5316G>A	c.(5314-5316)aaG>aaA	p.K1772K	MYH6_ENST00000356287.3_Silent_p.K1772K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1772					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGCTCCTTCTTCAGCTCCT	0.622000													6	84					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122685385	122685385	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:122685385C>T	ENST00000339777.4	+	10	1741	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	LRRC43_ENST00000425921.1_Silent_p.I386I|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	571										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCTGGTGATCCTGGAGCCCC	0.662000													6	63					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419371	123419371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123419371G>A	ENST00000360772.3	-	19	3322	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	MYLK_ENST00000359169.1_Missense_Mutation_p.R982C|MYLK_ENST00000360304.3_Missense_Mutation_p.R982C|MYLK_ENST00000346322.5_Missense_Mutation_p.R913C|MYLK_ENST00000475616.1_Missense_Mutation_p.R982C			Q15746	MYLK_HUMAN	myosin light chain kinase	982	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGCACTGAGCGAAAATCCGGG	0.587000													6	50					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2838652	2838652	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2838652G>A	ENST00000381154.1	-	4	504	c.429C>T	c.(427-429)acC>acT	p.T143T	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	143						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTATGAGGCCGGTTGCATAGC	0.542000													13	27					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170145543	170145543	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170145543G>A	ENST00000263816.3	-	9	1320	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	LRP2_ENST00000443831.1_Silent_p.T345T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	345	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TACCAACACAGGTACGGCTGT	0.527000													7	36					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129129	149129129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149129129G>A	ENST00000247930.4	-	6	2557	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCGCTCGCGCGAGTGCACGCG	0.672000													5	80					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35742530	35742530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35742530G>A	ENST00000400441.3	-	20	2553	c.2554C>T	c.(2554-2556)Cgt>Tgt	p.R852C	MROH8_ENST00000217333.8_Missense_Mutation_p.R681C|MROH8_ENST00000441008.2_Missense_Mutation_p.R838C					maestro heat-like repeat family member 8																		ACGGAGAAACGATGAACATCA	0.478000													3	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056445	9056445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9056445G>A	ENST00000397910.4	-	3	31204	c.31001C>T	c.(31000-31002)tCt>tTt	p.S10334F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10336	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGGTTGAAGAGGAGAATGG	0.517000													5	17					0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49833768	49833768	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:49833768G>A	ENST00000396822.1	-	2	414	c.57C>T	c.(55-57)taC>taT	p.Y19Y	SNAI2_ENST00000020945.1_Silent_p.Y19Y			O43623	SNAI2_HUMAN	snail family zinc finger 2	19					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCAGTTCGCTGTAGTTTGGCT	0.483000													9	118					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116371	220116371	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220116371C>T	ENST00000392088.2	-	3	801	c.246G>A	c.(244-246)gaG>gaA	p.E82E	TUBA4A_ENST00000248437.4_Silent_p.E97E|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	97					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCAGCATCCTCTTTCCCAG	0.527000													4	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179664453	179664453	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179664453A>G	ENST00000589042.1	-	6	899	c.675T>C	c.(673-675)atT>atC	p.I225I	TTN_ENST00000591111.1_Silent_p.I225I|TTN_ENST00000359218.5_Silent_p.I225I|TTN_ENST00000360870.5_Silent_p.I225I|TTN_ENST00000342992.6_Silent_p.I225I|TTN_ENST00000460472.2_Silent_p.I225I|TTN_ENST00000342175.6_Silent_p.I225I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	225							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)			AGTGGGCTTCAATCTTCTGTA	0.458000													9	42					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139638484	139638484	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139638484C>T	ENST00000303045.6	-	51	4112	c.3666G>A	c.(3664-3666)ggG>ggA	p.G1222G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1202G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1222	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)			GGCCTTCTTTCCCCTAAAAGA	0.443000										HNSCC(7;0.00092)			5	22					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965756	22965756	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22965756C>T	ENST00000374642.3	+	3	798	c.594C>T	c.(592-594)ttC>ttT	p.F198F	C1QA_ENST00000402322.1_Silent_p.F198F	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	198	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCTCTTCCAGGTGGTGT	0.592000													4	95					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687649	21687649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:21687649C>T	ENST00000398485.2	+	2	914	c.860C>T	c.(859-861)cCc>cTc	p.P287L	PAX1_ENST00000444366.2_Missense_Mutation_p.P263L|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	287					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCTCATGGCCCTCGGCACAC	0.662000													4	26					0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6432104	6432104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6432104G>A	ENST00000321510.6	-	2	387	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	107					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GTGCCCGTGCGAGACACCGCC	0.617000													7	49					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629323	47629323	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:47629323C>T	ENST00000546455.1	+	4	1208	c.477C>T	c.(475-477)ctC>ctT	p.L159L	PCED1B_ENST00000432328.1_Silent_p.L159L					PC-esterase domain containing 1B									p.L159L(1)									AGTCTTGCCTCCTGGTGTGGA	0.612000													6	39					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25747182	25747182	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25747182G>A	ENST00000294413.7	-	1	154	c.96C>T	c.(94-96)acC>acT	p.T32T	RHCE_ENST00000413854.1_Silent_p.T32T|RHCE_ENST00000346452.4_Silent_p.T32T|RHCE_ENST00000340849.4_Silent_p.T32T|RHCE_ENST00000349438.4_Silent_p.T32T|RHCE_ENST00000243186.6_Silent_p.T32T|RHCE_ENST00000455194.1_Silent_p.T32T|RHCE_ENST00000425135.1_Silent_p.T32T|RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000349320.3_Intron	NM_020485.4	NP_065231.3	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	32						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCATAGTGGGTAAAAAAAT	0.532000													14	192					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601755	75601755	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:75601755C>T	ENST00000549446.1	-	2	689	c.9G>A	c.(7-9)aaG>aaA	p.K3K	KCNC2_ENST00000350228.2_Silent_p.K3K|KCNC2_ENST00000341669.3_Silent_p.K3K|KCNC2_ENST00000298972.1_Silent_p.K3K|KCNC2_ENST00000548513.1_Silent_p.K3K|KCNC2_ENST00000550433.1_Silent_p.K3K|KCNC2_ENST00000393288.2_Silent_p.K3K|KCNC2_ENST00000540018.1_Silent_p.K3K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	3					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						TGTTCTCGATCTTGCCCATCT	0.577000													8	37					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2873621	2873621	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2873621G>A	ENST00000586426.1	+	2	217		c.e2+1		ZNF556_ENST00000307635.2_Splice_Site			Q9HAH1	ZN556_HUMAN	zinc finger protein 556						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTCAGTAGGTGAGGATAGC	0.463000													9	78					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138735	87138735	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:87138735G>A	ENST00000265724.3	-	27	3762	c.3345C>T	c.(3343-3345)atC>atT	p.I1115I	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.I1051I	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1115	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTGGGACACGATGCCCAGGT	0.517000													7	50					0	0	1	0	0
PET112	5188	broad.mit.edu	37	4	152629191	152629191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:152629191G>A	ENST00000263985.6	-	6	866	c.826C>T	c.(826-828)Cga>Tga	p.R276*	PET112_ENST00000512306.1_Nonsense_Mutation_p.R276*|PET112_ENST00000515812.1_Nonsense_Mutation_p.R235*	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	276						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTCCGTTCGAACGCCCAAA	0.498000													10	33					0	0	1	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610571	19610571	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19610571G>A	ENST00000361640.4	-	6	1293	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	251					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCTGCAGGGCCTTCTCCA	0.647000													8	63					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45907718	45907718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45907718G>A	ENST00000374391.2	+	4	564	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ALOX5_ENST00000542434.1_Missense_Mutation_p.D171N	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	171	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TATCCAGTTTGATAGTGAAAA	0.507000													7	37					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93709396	93709396	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93709396G>A	ENST00000334746.5	-	11	2929	c.2622C>T	c.(2620-2622)atC>atT	p.I874I	BTBD7_ENST00000393170.2_Silent_p.I448I|BTBD7_ENST00000554565.1_Silent_p.I523I	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	874										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CACCCACCGCGATGTCTGGCA	0.502000													9	87					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25301109	25301109	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25301109G>C	ENST00000400358.4	+	21	2830	c.2773G>C	c.(2773-2775)Ggc>Cgc	p.G925R	SGSM1_ENST00000400359.4_Missense_Mutation_p.G980R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	980	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTATGTCCAGGGCATGTGTGA	0.547000													23	225					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1153970	1153970	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1153970G>A	ENST00000263741.7	-	6	1072	c.780C>T	c.(778-780)tcC>tcT	p.S260S	SDF4_ENST00000360001.6_Silent_p.S260S	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	260	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCACGGGCAGGGAGATGAACT	0.607000													8	68					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380476	78380476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:78380476C>T	ENST00000278550.7	-	32	7376	c.6914G>A	c.(6913-6915)aGc>aAc	p.S2305N		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGGCTGTGGCTGCTCTTGCT	0.607000													9	89					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180412	18180412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18180412C>T	ENST00000600835.1	-	11	1436	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	IL12RB1_ENST00000430026.2_Missense_Mutation_p.G378E|IL12RB1_ENST00000593993.1_Missense_Mutation_p.G378E			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	378	Fibronectin type-III 4.		G -> R (in dbSNP:rs401502).		cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GGCAAGGCCCCCGTCCTGGCC	0.627000													11	43					0	0	1	0	0
PAGE3	139793	broad.mit.edu	37	X	55290291	55290291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:55290291C>T	ENST00000374951.1	-	2	354	c.46G>A	c.(46-48)Gat>Aat	p.D16N	PAGE3_ENST00000519203.1_Missense_Mutation_p.D16N					P antigen family, member 3 (prostate associated)											endometrium(1)|kidney(1)|lung(1)	3						TCTTGATCATCTCTTCTTTCT	0.338000													6	15					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523854	4523854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4523854C>T	ENST00000381848.3	-	8	1158	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	360						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCCAGCAGCTCGTCCACGCAG	0.751000													4	21					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42582801	42582801	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42582801C>A	ENST00000600245.1	+	2	698	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	ZNF574_ENST00000359044.4_Missense_Mutation_p.R15S|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R105S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CATTGAGCACCGCTATGTCTG	0.557000													4	128					1	1	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39915501	39915501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39915501C>T	ENST00000425673.1	+	17	3966	c.3641C>T	c.(3640-3642)tCc>tTc	p.S1214F	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S1184F|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.S1243F			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1243					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	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAGGAGGCTCCTTAGCCTCT	0.587000													20	164					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075690	145075690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145075690C>T	ENST00000369359.4	-	1	211	c.173G>A	c.(172-174)gGg>gAg	p.G58E	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.G58E|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.G58E|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.G58E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCCCAGCTCCCGGCTGGCTC	0.721000			T	PDGFRB	MPD								7	103					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66924059	66924059	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66924059G>T	ENST00000269080.2	-	9	1408	c.1271C>A	c.(1270-1272)cCa>cAa	p.P424Q	ABCA8_ENST00000586539.1_Missense_Mutation_p.P424Q|ABCA8_ENST00000430352.2_Missense_Mutation_p.P424Q	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	424						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTACTCACTTGGCAAAATTTT	0.299000													3	3					1	1	1	1	0
SLC1A5	6510	broad.mit.edu	37	19	47280251	47280251	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47280251G>A	ENST00000542575.2	-	7	1997	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	SLC1A5_ENST00000412532.2_Silent_p.L229L|SLC1A5_ENST00000594991.1_Silent_p.L281L|SLC1A5_ENST00000434726.2_Silent_p.L255L	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	457					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCCACAGCCAGGATCAAGGAG	0.612000													5	62					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760218	127760218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:127760218G>A	ENST00000368679.4	-	12	1469	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	ADAM12_ENST00000368676.4_Missense_Mutation_p.P387L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	387	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CATGGGAAATGGGTACCTGAG	0.552000													4	42					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074744	9074744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9074744G>A	ENST00000457346.2	-	12	1423	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	SCUBE2_ENST00000309263.3_Missense_Mutation_p.P450L|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.P450L			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	450						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACACTTGTGGGCAGGAGCCC	0.522000													4	40					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15281175	15281175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15281175C>T	ENST00000263388.2	-	27	5156	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1694					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACGGGTTCCCGCCGGCCCTT	0.667000													5	44					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782684	24782684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24782684C>T	ENST00000003912.3	+	9	1163	c.448C>T	c.(448-450)Caa>Taa	p.Q150*	NIPAL3_ENST00000339255.2_Nonsense_Mutation_p.Q232*|NIPAL3_ENST00000374399.4_Nonsense_Mutation_p.Q232*			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	232						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTTGTCCATTCAAGGGAACCT	0.547000													10	323					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898910	36898910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36898910C>T	ENST00000429976.2	-	12	2418	c.2171G>A	c.(2170-2172)gGa>gAa	p.G724E	TRANK1_ENST00000428977.2_Missense_Mutation_p.G174E|TRANK1_ENST00000301807.6_Missense_Mutation_p.G174E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	724					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATCTTTCTTTCCTTCTTTGCC	0.562000													4	30					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113444379	113444379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113444379C>T	ENST00000392583.2	+	8	1837	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	OAS2_ENST00000342315.4_Missense_Mutation_p.R544C|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	544	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGATTTAATTCGCCTGGTGAA	0.473000													7	86					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463975	150463975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150463975C>T	ENST00000438568.2	+	4	533	c.493C>T	c.(493-495)Cca>Tca	p.P165S	TARS2_ENST00000369064.3_Silent_p.R206R|TARS2_ENST00000369054.2_Silent_p.R206R|TARS2_ENST00000606933.1_Silent_p.R206R			Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	0					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)	ATCAGCTTCGCCAGTTGTTCA	0.537000													15	89					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149457738	149457738	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149457738G>A	ENST00000286301.3	-	5	957	c.666C>T	c.(664-666)atC>atT	p.I222I	CSF1R_ENST00000543093.1_Silent_p.I222I	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	222	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTGAGCACACGATCTGGGCAG	0.582000													16	61					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768829	121768829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:121768829C>T	ENST00000282561.3	+	2	993	c.836C>T	c.(835-837)tCg>tTg	p.S279L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	279					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.S279L(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCTCCCCTCTCGCCTATGTCT	0.507000													6	71					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552731	41552731	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552731T>G	ENST00000396942.1	-	27	3162	c.3079A>C	c.(3079-3081)Agc>Cgc	p.S1027R	ANK1_ENST00000379758.2_Missense_Mutation_p.S1027R|ANK1_ENST00000396945.1_Missense_Mutation_p.S1027R|ANK1_ENST00000289734.7_Missense_Mutation_p.S1027R|ANK1_ENST00000347528.4_Missense_Mutation_p.S1027R|ANK1_ENST00000352337.4_Missense_Mutation_p.S1027R|ANK1_ENST00000265709.8_Missense_Mutation_p.S1068R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1027					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCAGGTAGCTCTCTCCATAG	0.627000													15	175					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17449875	17449875	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17449875G>A	ENST00000302539.4	-	14	2126	c.2001C>T	c.(1999-2001)gtC>gtT	p.V667V	ABCC8_ENST00000389817.3_Silent_p.V667V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	667					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTGCACTGGGGACCAGGCTCT	0.662000													18	237					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176438	104176438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104176438G>A	ENST00000020673.5	-	2	884	c.358C>T	c.(358-360)Cca>Tca	p.P120S	PSD_ENST00000406432.1_Missense_Mutation_p.P120S	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	120	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AAGCCCCCTGGAGCAGGTAGC	0.652000													6	42					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	978262	978262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:978262C>T	ENST00000537687.1	+	9	4013	c.3370C>T	c.(3370-3372)Cat>Tat	p.H1124Y	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.H1209Y|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.H423Y	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	862					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATCTGCACTTCATCCACAGGT	0.388000													23	211					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8798182	8798182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:8798182C>T	ENST00000359865.3	+	10	2471	c.2329C>T	c.(2329-2331)Cga>Tga	p.R777*	SOGA2_ENST00000517570.1_Nonsense_Mutation_p.R736*|SOGA2_ENST00000306285.7_Nonsense_Mutation_p.R92*|SOGA2_ENST00000518815.1_Nonsense_Mutation_p.R92*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.R736*|SOGA2_ENST00000306329.11_Nonsense_Mutation_p.R1096*	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1087																	CGACAGTGACCGAGGCTGTGG	0.652000													9	55					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26781398	26781398	+	Silent	SNP	C	C	T	rs6734111	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26781398C>T	ENST00000272371.2	-	1	168	c.42G>A	c.(40-42)cgG>cgA	p.R14R	OTOF_ENST00000403946.3_Silent_p.R14R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	14					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCCCTGCCCCGCAGCTCCG	0.652000													4	68					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66898966	66898966	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66898966C>T	ENST00000269080.2	-	19	2669	c.2532G>A	c.(2530-2532)gtG>gtA	p.V844V	ABCA8_ENST00000586539.1_Silent_p.V884V|ABCA8_ENST00000430352.2_Silent_p.V884V	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	844						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GATATATTTTCACCATGGTAT	0.388000													7	61					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10782217	10782217	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10782217G>A	ENST00000416569.2	-	2	914	c.888C>T	c.(886-888)ttC>ttT	p.F296F	XKR6_ENST00000304437.2_Silent_p.F17F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	296						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGCTCTCCAGGAAGGTCTCCA	0.622000													10	73					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10710777	10710777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10710777G>A	ENST00000377022.3	-	13	3169	c.2852C>T	c.(2851-2853)tCa>tTa	p.S951L	CASZ1_ENST00000344008.5_Missense_Mutation_p.S951L|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TAAAAGAGATGAATTTGCCGG	0.562000													13	153					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745923	179745923	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:179745923G>A	ENST00000253778.8	-	10	997	c.828C>T	c.(826-828)ttC>ttT	p.F276F	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	276	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CGTCCTCCAGGAAGATGACCC	0.597000													7	35					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205901911	205901911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205901911G>A	ENST00000367135.3	-	4	408	c.295C>T	c.(295-297)Cct>Tct	p.P99S	SLC26A9_ENST00000340781.4_Missense_Mutation_p.P99S|SLC26A9_ENST00000367134.2_Missense_Mutation_p.P99S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	99						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TTGACTGCAGGAAGGTTGGCC	0.572000													7	39					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878027	21878027	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21878027G>T	ENST00000399982.2	-	10	2411	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CHD8_ENST00000430710.3_Missense_Mutation_p.P504T|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.P783T	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	783	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGAGTTCTGGGTGCCTTGAC	0.373000													4	48					1	1	1	1	0
GBP1P1	400759	broad.mit.edu	37	1	89889921	89889921	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89889921G>A	ENST00000513638.1	+	0	662					NR_003133.2																						GAGTTATCAGGAACACTTGAA	0.463000													37	333					0	0	1	0	0
IL17F	112744	broad.mit.edu	37	6	52103617	52103617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52103617C>T	ENST00000336123.4	-	2	272	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	55					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGTCAAGCTTCATACTACCTC	0.502000													5	44					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057934	53057934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53057934C>T	ENST00000359798.4	+	5	1945	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCGTAGACTTCATACTGGAGA	0.368000													5	78					0	0	1	0	0
PKIG	11142	broad.mit.edu	37	20	43243233	43243233	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43243233C>T	ENST00000372889.1	+	5	621	c.36C>T	c.(34-36)atC>atT	p.I12I	PKIG_ENST00000372882.3_Silent_p.I12I|PKIG_ENST00000372894.3_Silent_p.I12I|PKIG_ENST00000372887.1_Silent_p.I12I|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Silent_p.I12I|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372886.1_Silent_p.I12I|PKIG_ENST00000349959.3_Silent_p.I12I|PKIG_ENST00000372892.3_Silent_p.I12I			Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	12							cAMP-dependent protein kinase inhibitor activity|protein binding	p.I12I(1)		breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CGGACTTCATCTCCTGTGACC	0.617000													7	85					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989665	73989665	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73989665C>T	ENST00000553558.1	-	3	513	c.192G>A	c.(190-192)ttG>ttA	p.L64L	HEATR4_ENST00000334988.2_Silent_p.L64L|HEATR4_ENST00000560393.1_Silent_p.L17L|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGCCATTTTCAAATATTGGC	0.507000													5	92					0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76634064	76634064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:76634064C>T	ENST00000290759.4	+	6	1128	c.968C>T	c.(967-969)tCc>tTc	p.S323F	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCCCAGGTCTCCTTCTCCGAG	0.677000													6	95					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138927	42138927	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42138927T>C	ENST00000382448.4	+	23	2543	c.2534T>C	c.(2533-2535)cTg>cCg	p.L845P	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.L614P|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.L614P|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.L845P	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		614					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CTGTGCCTGCTGGATGTTGGC	0.597000													16	109					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72244185	72244185	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72244185A>T	ENST00000582365.1	+	7	860	c.794A>T	c.(793-795)aAt>aTt	p.N265I	CNDP1_ENST00000358821.3_Missense_Mutation_p.N308I			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	308					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAGGAAATAAATACATACAAA	0.438000													6	45					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473018	2473018	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2473018C>T	ENST00000258711.6	+	2	879	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	248					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCGACCCCTTCGTGCGCCTGA	0.597000													15	71					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432220	10432220	+	Silent	SNP	G	G	A	rs148640299		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10432220G>A	ENST00000245503.5	-	27	3915	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.F1177F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1177					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCATTTTCTGGAACTCAGCCT	0.607000													8	87					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109826556	109826556	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109826556C>T	ENST00000310903.5	+	2	139	c.33C>T	c.(31-33)gtC>gtT	p.V11V	MYO1H_ENST00000431443.2_Silent_p.V11V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGACAAGGTCGGGGTTCAGG	0.522000													17	132					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72021046	72021046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72021046G>A	ENST00000355327.3	+	9	1650	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.E506K|THSD4_ENST00000357769.4_Missense_Mutation_p.E146K			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	506						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCACCAACGAGATCTTGGA	0.458000													10	153					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269216	1269216	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1269216G>A	ENST00000447027.1	+	31	11173	c.11115G>A	c.(11113-11115)acG>acA	p.T3705T	MUC5B_ENST00000529681.1_Silent_p.T3702T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3702	11 X approximate tandem repeats, Ser/Thr- rich.|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)		CAGCCACTACGACTGAGTCCA	0.667000													19	173					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545963	138545963	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138545963G>A	ENST00000440172.1	-	16	5217	c.5169C>T	c.(5167-5169)acC>acT	p.T1723T	KIAA1549_ENST00000422774.1_Silent_p.T1723T|KIAA1549_ENST00000242365.4_Silent_p.T1673T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1723						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTGGGAAGGGGTGCTGTTTG	0.657000			O	BRAF	pilocytic astrocytoma								17	62					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72050249	72050249	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72050249G>A	ENST00000355327.3	+	15	2558	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.A808A|THSD4_ENST00000357769.4_Silent_p.A448A			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	808	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGTGCTCAGCGGAGTGTGGGG	0.607000													14	54					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95034466	95034466	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95034466G>A	ENST00000557004.1	+	4	1345	c.923_splice	c.e4-1	p.R308_splice	SERPINA4_ENST00000298841.5_Splice_Site_p.R308_splice|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Splice_Site_p.R308_splice			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	308					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCCCTTTCAGGAATTTTTACA	0.478000													17	109					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444102	15444102	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15444102G>A	ENST00000295297.4	+	3	829	c.570G>A	c.(568-570)ggG>ggA	p.G190G	C1QTNF7_ENST00000444304.2_Silent_p.G183G|C1QTNF7_ENST00000429690.1_Silent_p.G183G	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	183	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTGCCACAGGGAAGTTCATCT	0.438000													23	136					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73985833	73985833	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73985833C>T	ENST00000553558.1	-	5	1425	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	HEATR4_ENST00000334988.2_Silent_p.K368K|HEATR4_ENST00000560393.1_Silent_p.K321K|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCTGGTCTCTCTTTGCACCAA	0.463000													4	94					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31330939	31330939	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31330939G>A	ENST00000215862.4	-	20	3199	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	MORC2_ENST00000397641.2_Silent_p.P674P	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	674							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGGCTTTCGGGGTGCCTCAG	0.617000													6	63					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201195166	201195166	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201195166C>T	ENST00000335211.4	+	22	10831	c.10701C>T	c.(10699-10701)taC>taT	p.Y3567Y	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCACGAATACCACTTCAGGG	0.667000													5	38					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487092	228487092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228487092G>A	ENST00000570156.2	+	50	13417	c.13343G>A	c.(13342-13344)gGg>gAg	p.G4448E	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1138E|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3491	Ig-like 46.				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)				CTCAGAGATGGGGACAAATAC	0.567000													5	46					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33007724	33007724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33007724C>T	ENST00000317907.4	+	15	2042	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	604							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTGTCAACTTCCTATATCCGA	0.294000													11	25					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46792579	46792579	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46792579G>T	ENST00000262738.3	-	13	5765	c.5766C>A	c.(5764-5766)tgC>tgA	p.C1922*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1922	EGF-like 6; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGAGCGCACGCAGGCCCCCA	0.617000													6	16					0.00307968	0.0031084	1	1	0
SPG11	80208	broad.mit.edu	37	15	44892688	44892688	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:44892688G>A	ENST00000261866.7	-	21	3679	c.3663C>T	c.(3661-3663)atC>atT	p.I1221I	SPG11_ENST00000558319.1_Silent_p.I1221I|SPG11_ENST00000427534.2_Silent_p.I1221I|SPG11_ENST00000535302.2_Silent_p.I1221I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1221					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTTGCTCTTGATTAATTCCT	0.388000													7	113					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74351735	74351735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:74351735G>A	ENST00000226355.3	+	4	520	c.427G>A	c.(427-429)Gat>Aat	p.D143N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	143	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTACCCTGGATCCCGAAGA	0.383000													6	20					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572926	103572926	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:103572926C>T	ENST00000285402.3	+	2	723	c.567C>T	c.(565-567)tcC>tcT	p.S189S	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	189					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TAACATACTCCTATGGGCTCG	0.552000													4	30					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41705177	41705177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:41705177G>A	ENST00000301831.4	-	30	3454	c.2992C>T	c.(2992-2994)Ctt>Ttt	p.L998F		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	998							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGTTCTAAAAGAATGTGCTCA	0.368000													5	21					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88240513	88240513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:88240513G>A	ENST00000369536.5	-	9	805	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	254					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TTGTAAACCCGAATGTACTCT	0.473000													5	35					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187819	42187819	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42187819G>A	ENST00000006724.3	-	3	804	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Silent_p.L201L	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	201	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane		p.L201L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGAGTAGAACGAGGGTCCTGT	0.537000													5	87					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36995237	36995237	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36995237G>A	ENST00000274963.8	+	15	1809	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	546	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCAGAGCCTGATGTGCAGCT	0.622000													7	109					0	0	1	0	0
C19orf10	56005	broad.mit.edu	37	19	4658084	4658084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4658084G>A	ENST00000262947.3	-	6	490	c.455C>T	c.(454-456)cCc>cTc	p.P152L		NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	152						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		GAATGCCCCGGGCCTGTGAGC	0.577000													5	19					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771812	143771812	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771812T>C	ENST00000408898.2	+	1	538	c.500T>C	c.(499-501)tTc>tCc	p.F167S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACTGTCCTTCTGTGGACCC	0.433000													9	116					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990199	127990199	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127990199C>T	ENST00000373538.3	+	6	847	c.537C>T	c.(535-537)acC>acT	p.T179T	RABEPK_ENST00000394125.4_Silent_p.T179T|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.T128T	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	179					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACTCTGACCTGGTCACAGC	0.488000													8	33					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78196486	78196486	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78196486C>T	ENST00000361193.3	+	4	547	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000546047.2_Silent_p.F89F|SLC26A11_ENST00000411502.3_Silent_p.F89F|SLC26A11_ENST00000572725.1_Silent_p.F89F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	89						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGGCTGCTTCGTGTATTTCT	0.612000													12	155					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215851370	215851370	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215851370C>T	ENST00000272895.7	-	28	4278	c.4059G>A	c.(4057-4059)aaG>aaA	p.K1353K	ABCA12_ENST00000389661.4_Silent_p.K1035K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1353	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCATAGATCTTTGTGACCC	0.453000													7	32					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756380	94756380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94756380C>T	ENST00000554723.1	-	2	1089	c.671G>A	c.(670-672)aGg>aAg	p.R224K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R184K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R184K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R184K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	184					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ATCAAAATACCTCTTGGATAA	0.443000													15	63					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38442461	38442461	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38442461C>T	ENST00000207870.3	+	18	1608	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Silent_p.S369S	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	506					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CTACCCCAAGCCCGGGAGCTT	0.493000													5	65					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34070913	34070913	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34070913C>T	ENST00000373381.4	-	42	6677	c.6501G>A	c.(6499-6501)cgG>cgA	p.R2167R	CSMD2_ENST00000373380.1_Silent_p.R1040R|CSMD2_ENST00000373377.1_Silent_p.R266R|CSMD2_ENST00000373388.2_Silent_p.R266R	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2169	Sushi 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCCCAGTTCCGGTTGGTGC	0.587000													4	36					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252981	37252981	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:37252981G>A	ENST00000310758.4	-	12	1560	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	ELMO1_ENST00000442504.1_Silent_p.L305L|ELMO1_ENST00000448602.1_Silent_p.L305L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	305					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						CTGTCTTCCAGGAGGTTAAAG	0.502000													4	21					0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198863	86198863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:86198863C>T	ENST00000361228.3	-	2	1293	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	309					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCCAGTTCACTTGCAGCT	0.373000													15	149					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750012	155750012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155750012C>T	ENST00000159060.2	-	9	1163	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	354	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TCCTGCTGCCCGGATGTGCAC	0.617000													6	60					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	347136	347136	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:347136G>A	ENST00000400256.3	-	5	693	c.486C>T	c.(484-486)ttC>ttT	p.F162F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	162					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGGTGATGAGGAAAGAGTTAT	0.488000													15	73					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103579	2103579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2103579C>T	ENST00000400921.2	+	9	1281	c.598C>T	c.(598-600)Ctc>Ttc	p.L200F	PRKCZ_ENST00000400920.1_Missense_Mutation_p.L200F|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	383					anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GGACAACGTCCTCCTGGATGC	0.627000													8	43					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097409	202097409	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202097409C>A	ENST00000367282.4	+	2	1277	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	391						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CGAGCTGACCCGCCAGACCCT	0.632000													4	85					1	1	1	1	0
FA2H	79152	broad.mit.edu	37	16	74760214	74760214	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74760214G>A	ENST00000219368.3	-	4	591	c.522C>T	c.(520-522)atC>atT	p.I174I	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	174					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GCACCCAGATGATGGGGACAC	0.507000													8	49					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52938396	52938396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52938396G>A	ENST00000267119.5	-	9	1561	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	498	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACTGCCCCGGCTCCTGCCC	0.622000													7	111					0	0	1	0	0
C12orf74	338809	broad.mit.edu	37	12	93100509	93100509	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:93100509C>T	ENST00000544406.2	+	2	368	c.102C>T	c.(100-102)ctC>ctT	p.L34L	C12orf74_ENST00000397833.3_Silent_p.L34L			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	34										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGGGGAGTCTCCTCCAGTTTG	0.612000													4	36					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475117	50475117	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50475117G>A	ENST00000602139.1	+	0	1063									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						AAAACCTGAGGAACGGCACAT	0.662000													4	15					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438486	120438486	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120438486G>A	ENST00000369400.1	-	1	632	c.474C>T	c.(472-474)gtC>gtT	p.V158V		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	158					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGAGATAGACGACATGTTCAA	0.458000													51	713					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347977	156347977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156347977G>A	ENST00000400992.2	+	4	732	c.364G>A	c.(364-366)Ggt>Agt	p.G122S	RHBG_ENST00000368246.2_Intron|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Intron|RHBG_ENST00000255013.3_Intron|RHBG_ENST00000451864.2_Missense_Mutation_p.G122S			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	177					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGGTGGTCAAGGTCAGCCTCT	0.642000													10	28					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37145462	37145462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:37145462C>T	ENST00000554201.1	+	3	1140	c.260C>T	c.(259-261)aCc>aTc	p.T87I	PAX9_ENST00000557107.1_3'UTR|PAX9_ENST00000402703.2_Silent_p.Y277Y|PAX9_ENST00000361487.6_Silent_p.Y277Y			P55771	PAX9_HUMAN	paired box 9	0	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		TGGCTCCTTACCCTACCCCAG	0.502000													5	74					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769438	37769438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37769438G>A	ENST00000402918.1	-	3	2922	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.P713S	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TACAGGGCGGGAAAGCTGTGC	0.711000													3	12					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145012849	145012849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145012849G>A	ENST00000322810.4	-	2	704	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	PLEC_ENST00000527096.1_Missense_Mutation_p.R69C|PLEC_ENST00000398774.2_Missense_Mutation_p.R10C|PLEC_ENST00000354589.3_Missense_Mutation_p.R42C|PLEC_ENST00000354958.2_Missense_Mutation_p.R20C|PLEC_ENST00000356346.3_Missense_Mutation_p.R28C|PLEC_ENST00000357649.2_Missense_Mutation_p.R46C|PLEC_ENST00000345136.3_Missense_Mutation_p.R42C|PLEC_ENST00000436759.2_Missense_Mutation_p.R69C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	179	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCTGCACACGATCCCGCTCA	0.627000													5	51					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2403135	2403135	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2403135G>A	ENST00000332578.3	+	5	510	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	170	LDL-receptor class A.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCAAGGTGAACCCGGAGT	0.602000													10	31					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46671288	46671288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46671288C>T	ENST00000381031.3	+	5	585	c.509C>T	c.(508-510)cCc>cTc	p.P170L	TTC38_ENST00000445282.2_Intron	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	170							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						CGAATTTACCCCTTCTGGACA	0.438000													4	103					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91147627	91147627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91147627C>T	ENST00000420329.2	+	5	571	c.424C>T	c.(424-426)Cct>Tct	p.P142S	CTD-3065B20.3_ENST00000559839.1_RNA|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000268184.6_Missense_Mutation_p.P142S	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	142					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGCAGCCTCCTTGGAAAGA	0.438000			T	MAML2	salivary gland mucoepidermoid								5	66					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754727	49754727	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:49754727T>C	ENST00000304801.3	-	1	326	c.174A>G	c.(172-174)gtA>gtG	p.V58V		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	58					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TCATAAGAACTACTGCCTTGG	0.478000													5	29					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16059904C>T	ENST00000322107.1	+	1	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000													18	76					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223491	118223491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118223491C>T	ENST00000402510.2	-	11	1701	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	568										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CCAGCTCTATCGCCCAGGCCA	0.468000													4	28					0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054169	46054169	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46054169T>C	ENST00000536708.2	+	9	1074	c.965T>C	c.(964-966)tTc>tCc	p.F322S	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.F297S	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	297					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						TGGGGCATCTTCCCGGAATCA	0.517000													5	37					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92442784	92442784	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92442784A>G	ENST00000370389.2	+	6	1508	c.584A>G	c.(583-585)aAa>aGa	p.K195R	BRDT_ENST00000402388.1_Missense_Mutation_p.K268R|BRDT_ENST00000394530.3_Missense_Mutation_p.K222R|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.K268R|BRDT_ENST00000362005.3_Missense_Mutation_p.K268R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAGACTGTTAAAGTAACTGAA	0.343000													11	37					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570920	7570920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7570920G>A	ENST00000361664.2	+	7	1217	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	359										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGACCCTAGGGGAGCCAAAG	0.582000													10	56					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273157	28273157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28273157C>T	ENST00000305242.5	-	5	730	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARMC4_ENST00000239715.3_Missense_Mutation_p.G70E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	213							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTCCTTTTCCTGAGAAACG	0.308000													7	27					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142176316	142176316	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142176316G>A	ENST00000519811.1	+	12	1651	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	DENND3_ENST00000262585.2_Silent_p.R447R|DENND3_ENST00000424248.1_Silent_p.R395R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	447										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TAAGTCCAAGGAGACCGACCG	0.478000													17	169					0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197672262	197672262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197672262G>A	ENST00000342506.2	-	2	1147	c.259C>T	c.(259-261)Cct>Tct	p.P87S		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	87						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						AGAGGTCTAGGATTTTCATTC	0.393000													6	96					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237687	29237687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:29237687C>T	ENST00000382535.3	+	2	1571	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	FOXG1_ENST00000313071.4_Missense_Mutation_p.S401F			P55316	FOXG1_HUMAN	forkhead box G1	401	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGGACCTACTCCCTCAACCCC	0.672000													6	22					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141443372	141443372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141443372G>A	ENST00000481508.1	+	4	532	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	SSBP1_ENST00000498107.1_Missense_Mutation_p.V33M|SSBP1_ENST00000465582.1_Missense_Mutation_p.V33M|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.V33M|SSBP1_ENST00000265304.6_Missense_Mutation_p.V33M	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	33	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					CCTGAATCGTGTGCACTTACT	0.453000													18	69					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204073420	204073420	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:204073420G>A	ENST00000449802.1	+	51	7813	c.7480G>A	c.(7480-7482)Gag>Aag	p.E2494K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2494							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACACACCAACGAGGTACTGAG	0.403000													61	426					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086093	100086093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100086093C>T	ENST00000423930.1	+	4	908	c.749C>T	c.(748-750)gCc>gTc	p.A250V	NYAP1_ENST00000454988.1_Missense_Mutation_p.A193V|NYAP1_ENST00000300179.2_Missense_Mutation_p.A250V			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	250																	CCAGCGGGCGCCGACTCGGAC	0.652000													4	77					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123366088	123366088	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123366088G>A	ENST00000360772.3	-	28	4980	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I	MYLK_ENST00000354792.5_Silent_p.I334I|MYLK_ENST00000359169.1_Silent_p.I1534I|MYLK_ENST00000360304.3_Silent_p.I1534I|MYLK_ENST00000346322.5_Silent_p.I1465I|MYLK_ENST00000475616.1_Silent_p.I1534I			Q15746	MYLK_HUMAN	myosin light chain kinase	1534	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGACCATGACGATGTTGGCCT	0.567000													6	43					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300978	110300978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110300978G>A	ENST00000369805.3	-	8	909	c.680C>T	c.(679-681)cCa>cTa	p.P227L	EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.P226L|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P226L	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	226	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GGACCGCCTTGGAGGAGGCAG	0.617000													16	295					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133807326	133807326	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:133807326G>A	ENST00000321016.8	-	5	854	c.624C>T	c.(622-624)tgC>tgT	p.C208C	IGSF9B_ENST00000533871.2_Silent_p.C208C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	208	Ig-like 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTACGCTCGGCAGGTGTAGG	0.617000													5	29					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702628	27702628	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702628G>A	ENST00000438700.3	-	1	669	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	184					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGCCCTGCACGAAGCGCCGCT	0.627000													7	157					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44955175	44955175	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44955175G>A	ENST00000296125.4	+	14	2081	c.2013G>A	c.(2011-2013)gtG>gtA	p.V671V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	671					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCAAACAAGTGAAAGAGATTA	0.423000											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26906832	26906832	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26906832A>G	ENST00000321765.5	-	17	3153	c.2821T>C	c.(2821-2823)Ttg>Ctg	p.L941L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	941					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTTCCAAGCAAGGGCACAGGA	0.527000													23	108					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96917830	96917830	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96917830C>T	ENST00000267584.4	+	10	1065	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	341					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)		TTTTAATATTCGATGGGCTGC	0.393000													5	43					0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51971732	51971732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51971732G>A	ENST00000232888.6	-	4	374	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	101	Glu-rich.				rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding	p.R101S(1)		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)		TCAAATGCACGGGCCTCAGCC	0.622000													9	109					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50854977	50854977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50854977C>T	ENST00000398473.2	+	11	1293	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	LARP4_ENST00000518561.1_Missense_Mutation_p.S324F|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000518444.1_Missense_Mutation_p.S393F|LARP4_ENST00000347328.5_Missense_Mutation_p.S323F|LARP4_ENST00000522085.1_Missense_Mutation_p.S394F|LARP4_ENST00000429001.3_Missense_Mutation_p.S400F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	394							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GGCTCTGTATCCTTGGGGGAT	0.438000													8	68					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32074473	32074473	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:32074473G>A	ENST00000438447.1	+	18	3649	c.3261G>A	c.(3259-3261)ttG>ttA	p.L1087L	PDZD2_ENST00000282493.3_Silent_p.L1087L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1087					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						CACCCAAATTGGAATACACAG	0.592000													12	122					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44502933	44502933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44502933G>A	ENST00000260649.6	+	1	335	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SLC3A1_ENST00000409229.3_Missense_Mutation_p.E87K|SLC3A1_ENST00000409387.1_Missense_Mutation_p.E87K|SLC3A1_ENST00000409741.1_Missense_Mutation_p.E87K|SLC3A1_ENST00000410056.3_Missense_Mutation_p.E87K	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	87					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CATACCTCGGGAGATCCTCTT	0.617000													7	75					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773539	43773539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43773539C>T	ENST00000244293.7	-	1	111	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG9_ENST00000418820.2_Nonsense_Mutation_p.W15*|PSG9_ENST00000596730.1_Nonsense_Mutation_p.W15*|PSG9_ENST00000291752.5_Nonsense_Mutation_p.W15*|PSG9_ENST00000443718.3_Nonsense_Mutation_p.W15*|PSG9_ENST00000270077.3_Nonsense_Mutation_p.W15*|PSG9_ENST00000593948.1_Nonsense_Mutation_p.W15*			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	15					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGAGCCCCTTCCAGGTGATGC	0.617000													24	105					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926546	6926546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6926546G>A	ENST00000312053.4	+	16	2193	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	EMR1_ENST00000250572.8_Missense_Mutation_p.G654E|EMR1_ENST00000381404.4_Missense_Mutation_p.G667E|EMR1_ENST00000450315.3_Missense_Mutation_p.G542E|EMR1_ENST00000381407.5_Missense_Mutation_p.G578E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	719					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTGGTTATGGGCTGCCGATG	0.512000													19	112					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54528164	54528164	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:54528164G>A	ENST00000373968.3	-	4	544	c.480C>T	c.(478-480)gcC>gcT	p.A160A	MBL2_ENST00000493043.1_Intron	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	160	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGCCACAGAGGCCTGGAACT	0.498000													4	61					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18961014	18961014	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18961014C>T	ENST00000420770.2	+	2	386	c.303C>T	c.(301-303)atC>atT	p.I101I	PAX7_ENST00000400661.3_Silent_p.I101I|PAX7_ENST00000375375.3_Silent_p.I101I	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	101	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGGGCCATCGGCGGCAGCA	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma								20	37					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50140113	50140113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50140113G>A	ENST00000371564.3	-	2	886	c.667C>T	c.(667-669)Cga>Tga	p.R223*	NFATC2_ENST00000414705.1_Nonsense_Mutation_p.R203*|NFATC2_ENST00000396009.3_Nonsense_Mutation_p.R223*	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	223	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGCTGGTTCGAGGTGACATT	0.647000													11	171					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378319	31378319	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31378319G>A	ENST00000297142.3	-	2	886	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	188					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GACCCATCAGGAAACTCCTGG	0.567000													7	66					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232568155	232568155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:232568155G>A	ENST00000366630.1	-	15	4452	c.4094C>T	c.(4093-4095)tCa>tTa	p.S1365L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1365L|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S439L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1365	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACTTTGGATGAATCCAGAGA	0.483000													5	55					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316665	203316665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203316665G>A	ENST00000354955.4	-	2	1197	c.734C>T	c.(733-735)gCt>gTt	p.A245V	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	245					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGCTCAAGAGCTGAGGGCAG	0.582000													7	101					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910093	35910093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35910093C>T	ENST00000397367.2	-	4	526	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	CAPSL_ENST00000514524.1_Missense_Mutation_p.E134K|CAPSL_ENST00000397366.1_Missense_Mutation_p.E134K	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	134	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CGAAGGTCTTCGATTGTTATA	0.383000													10	56					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515437	56515437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56515437G>A	ENST00000390649.3	+	2	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	140	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AACCCTCTCGGAGAAGGCACG	0.517000													4	56					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659832	179659832	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179659832G>A	ENST00000444136.1	+	18	3112	c.2860_splice	c.e18-1	p.V954_splice	TDRD5_ENST00000367614.1_Splice_Site_p.V900_splice|TDRD5_ENST00000294848.8_Splice_Site_p.V900_splice	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	900					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTTTTCCAGTGGAAAGCTCAC	0.403000													5	34					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136265581	136265581	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136265581G>A	ENST00000371957.3	+	12	1229	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	374							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTCACGACCATGGAGC	0.652000													6	56					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264261	48264261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48264261G>A	ENST00000225964.5	-	48	3672	c.3554C>T	c.(3553-3555)cCt>cTt	p.P1185L		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1185	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGACCAGGAGGTCCAGGAGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						10	32					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115306	54115306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:54115306C>T	ENST00000548263.1	-	6	751	c.703G>A	c.(703-705)Gat>Aat	p.D235N	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.D235N|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.D202N|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.D235N			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	235					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGATGTCATCCTCTAGCTCC	0.567000													48	260					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956672	42956672	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42956672C>T	ENST00000541208.1	+	5	1476	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	ZNF662_ENST00000440367.2_Silent_p.F369F|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Silent_p.F395F			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAAAGCTTCTTTTGCAAGG	0.463000													3	23					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25064518	25064518	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:25064518G>A	ENST00000260600.5	-	4	1826	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	325					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TAAAGCCCACGATGTCGGCAA	0.602000													13	30					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265018	39265018	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39265018C>T	ENST00000280481.7	+	1	3753	c.3537C>T	c.(3535-3537)ttC>ttT	p.F1179F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1179					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACAGTTCTTCCCCATTGTAA	0.418000													18	80					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6374389	6374389	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6374389C>T	ENST00000335585.5	-	5	509	c.486G>A	c.(484-486)gtG>gtA	p.V162V	PPP2R2C_ENST00000506140.1_Silent_p.V155V|PPP2R2C_ENST00000382599.4_Silent_p.V162V|PPP2R2C_ENST00000507294.1_Silent_p.V155V|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.V145V	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	162					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCGAGGGCTCACCTCCACCA	0.577000													15	79					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035909	88035909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:88035909C>T	ENST00000307808.6	+	11	2323	c.1903C>T	c.(1903-1905)Cga>Tga	p.R635*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.R642*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.R273*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	635						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTATGGCTCCCGAGACCAGAC	0.612000													5	51					0	0	1	0	0
LENEP	55891	broad.mit.edu	37	1	154966142	154966142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154966142C>T	ENST00000392487.1	+	1	79	c.59C>T	c.(58-60)cCt>cTt	p.P20L				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	20					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGGGGCCCCTCGAGACACT	0.637000													4	73					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207867698	207867698	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207867698G>A	ENST00000508064.2	+	5	524	c.463_splice	c.e5-1	p.R155_splice	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	155	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTTTCCCAGGAATTATTTGT	0.383000													3	14					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80636063	80636063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:80636063G>A	ENST00000369816.4	-	2	436	c.136C>T	c.(136-138)Cct>Tct	p.P46S		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	46					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GTAGGCCAAGGAGACTGCATC	0.378000													5	11					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424151	40424151	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40424151G>A	ENST00000221347.6	-	4	2059	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	684	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCAGACAGCGAAGGGGCCAT	0.642000													33	199					0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6733560	6733560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6733560C>T	ENST00000338694.2	-	2	265	c.136G>A	c.(136-138)Gat>Aat	p.D46N	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	46					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCAATTTCATCCACAAGCCTC	0.478000													4	52					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541765	187541765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187541765G>A	ENST00000441802.2	-	10	6184	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1992	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCCTCGGTGGAATTCTCTTT	0.408000										HNSCC(5;0.00058)			30	196					0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001409	149001409	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149001409G>A	ENST00000333677.6	+	9	1282	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	373	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACTTTGAGCGGGTGGAAGAGA	0.612000													8	83					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17548825	17548825	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17548825A>T	ENST00000375471.4	+	2	225	c.133A>T	c.(133-135)Agc>Tgc	p.S45C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	45					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTCTGGAAGCTCCGGGGT	0.572000													27	78					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516631	195516631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195516631G>A	ENST00000463781.3	-	2	2279	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	MUC4_ENST00000475231.1_Missense_Mutation_p.S607F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	612					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATTTGTTGGGATGTGTGTCT	0.473000													28	331					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616252	73616252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:73616252C>T	ENST00000261917.3	-	8	3175	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	728					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGTTGAGGTCGTGCTGGACT	0.592000													5	82					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44475743	44475743	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44475743G>A	ENST00000372310.3	-	4	378	c.213C>T	c.(211-213)atC>atT	p.I71I	SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372307.3_Silent_p.I6I|SLC6A9_ENST00000360584.2_Silent_p.I144I|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Silent_p.I6I|SLC6A9_ENST00000372306.3_Silent_p.I71I|SLC6A9_ENST00000357730.2_Silent_p.I90I	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	144						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGATGAGCATGATGAAGTAGG	0.597000													11	74					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006897	32006897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32006897G>A	ENST00000418967.2	+	3	477	c.319G>A	c.(319-321)Gac>Aac	p.D107N	CYP21A2_ENST00000435122.2_Missense_Mutation_p.D77N	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	106			L -> R (in AH3; loss of activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GAACTACCCGGACCTGTCCTT	0.622000													6	160					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882354	42882354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42882354G>A	ENST00000426548.1	-	3	1101	c.832C>T	c.(832-834)Cct>Tct	p.P278S	GJC1_ENST00000592524.1_Missense_Mutation_p.P278S|GJC1_ENST00000330514.4_Missense_Mutation_p.P278S|GJC1_ENST00000590758.1_Missense_Mutation_p.P278S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	278					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAAGTGAAAGGATAATTATAA	0.443000													20	98					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213734	9213734	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9213734G>A	ENST00000305456.2	-	1	248	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GATTGGAGAGGAAGAAGTACA	0.502000													12	85					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558687	118558687	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118558687G>A	ENST00000336338.5	-	29	4253	c.4188C>T	c.(4186-4188)acC>acT	p.T1396T		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1396						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCAGGTGTGGTTGTAAACC	0.483000													7	10					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849870	73849870	+	Silent	SNP	C	C	A	rs115151346	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73849870C>A	ENST00000523207.1	+	3	2868	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	760					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TAGAAGAAACCCCCTCCCAGG	0.592000													8	88					0.000157383	0.000159302	1	1	0
DHRS3	9249	broad.mit.edu	37	1	12628409	12628409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12628409C>T	ENST00000376223.2	-	6	1252	c.869G>A	c.(868-870)gGa>gAa	p.G290E		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	290					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GGTGTAGGTTCCTGAGAATTT	0.537000													20	147					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590593	24590593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24590593C>T	ENST00000558325.1	+	1	34	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	DCAF11_ENST00000559115.1_Silent_p.L422L|DCAF11_ENST00000446197.3_Silent_p.L422L|DCAF11_ENST00000396936.1_Silent_p.L322L|DCAF11_ENST00000396941.4_Silent_p.L396L																							AGCTGAAGCTCCCAGGGGACA	0.577000													5	90					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236645	33236645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33236645C>T	ENST00000401073.2	+	6	1935	c.1865C>T	c.(1864-1866)cCt>cTt	p.P622L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P574L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P563L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	563	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTCGCTCCCCTGGGGCCTCC	0.652000													7	103					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24390630	24390630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24390630C>T	ENST00000330966.7	-	30	3725	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.G78E|MYOM3_ENST00000374434.3_Missense_Mutation_p.G1185E			Q5VTT5	MYOM3_HUMAN	myomesin 3	1185	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGTAAATTCCCTTGTCCTT	0.557000													6	61					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508466	123508466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:123508466C>T	ENST00000223026.4	+	3	777	c.139C>T	c.(139-141)Cct>Tct	p.P47S	HYAL4_ENST00000476325.1_Missense_Mutation_p.P47S	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	47					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAAGGAAACCTTTTATAGC	0.348000													5	37					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556054	29556054	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29556054C>T	ENST00000383640.2	+	1	372	c.333C>T	c.(331-333)atC>atT	p.I111I	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	111					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGAGTGCATCCTCTTGACAG	0.567000													8	100					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288214	202288214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202288214C>T	ENST00000367278.3	+	18	2872	c.2783C>T	c.(2782-2784)cCc>cTc	p.P928L	LGR6_ENST00000439764.2_Missense_Mutation_p.P789L|LGR6_ENST00000255432.7_Missense_Mutation_p.P876L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	928			P -> H (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane	protein-hormone receptor activity	p.P928H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTTGGGAACCCCCAACCCTCC	0.637000													12	71					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193181590	193181590	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:193181590C>T	ENST00000367435.3	+	13	1321	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	379			D -> N (in HPT-JT).		cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ATGCAAAAGACCTTCTACAGG	0.328000													21	123					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134648888	134648888	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134648888G>A	ENST00000368586.5	-	47	6764	c.6664C>T	c.(6664-6666)Ctg>Ttg	p.L2222L	TTC40_ENST00000263170.5_Silent_p.L383L	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	383										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CAGGCCAGCAGGTGGGAGAAG	0.637000													5	61					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46245532G>A	ENST00000296140.3	-	2	398	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	91					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453000													4	67					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651681	75651681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75651681G>A	ENST00000565683.1	-	17	2058	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MAN2C1_ENST00000563622.1_Silent_p.F579F|MAN2C1_ENST00000267978.5_Silent_p.F678F|MAN2C1_ENST00000569482.1_Silent_p.F678F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	664					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTGCACTACGAACACAGGCT	0.622000													6	55					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415827	5415827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:5415827G>A	ENST00000341928.2	-	13	2397	c.2057C>T	c.(2056-2058)tCa>tTa	p.S686L	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S686L|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	686	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTTCCTCTGAACTGTCACT	0.577000													13	45					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960664	22960664	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22960664C>T	ENST00000356864.3	+	1	562	c.30C>T	c.(28-30)ttC>ttT	p.F10F	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000397703.2_Silent_p.F50F|TNFRSF10C_ENST00000520607.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	10					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCCTAAAGTTCGTCGTCGTCA	0.721000													4	28					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879272	209879272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209879272G>A	ENST00000367028.2	+	3	374	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	HSD11B1_ENST00000261465.1_Missense_Mutation_p.E69K|HSD11B1_ENST00000367027.3_Missense_Mutation_p.E69K|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	69					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAGGTCAAAAGAAACTCTACA	0.478000													5	21					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58014116	58014116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58014116C>T	ENST00000379218.2	+	1	424	c.113C>T	c.(112-114)tCt>tTt	p.S38F	SLC26A10_ENST00000320442.4_Missense_Mutation_p.S38F			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	38						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CCATCCACTTCTATCCCAGGC	0.537000													48	568					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060436	128060436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128060436G>A	ENST00000254730.6	+	5	1201	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	EEFSEC_ENST00000483457.1_Missense_Mutation_p.D328N|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	383						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCTGTCCAAGGATTTGACACC	0.532000													5	38					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79946063	79946063	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:79946063G>A	ENST00000438737.2	-	4	770	c.330C>T	c.(328-330)atC>atT	p.I110I	RBM26_ENST00000438724.1_Silent_p.I110I|RBM26_ENST00000267229.7_Silent_p.I110I			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	110					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)		CCTCCTTAGTGATCTGATTAA	0.398000													4	19					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220167333	220167333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220167333C>T	ENST00000295718.2	-	5	844	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.E202K|PTPRN_ENST00000423636.2_Missense_Mutation_p.E112K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	202					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E202K(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AAGGCAGGTTCGTAACTCAGT	0.632000													7	100					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727348	42727348	+	Missense_Mutation	SNP	G	G	A	rs144461124	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42727348G>A	ENST00000287777.4	+	1	338	c.238G>A	c.(238-240)Gac>Aac	p.D80N		NM_152393.2	NP_689606.2			kelch-like family member 40																		GGTGTCCCCGGACGTGGTGGC	0.677000													6	37					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197670688	197670688	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:197670688G>A	ENST00000265239.6	-	4	667	c.243C>T	c.(241-243)atC>atT	p.I81I	IQCG_ENST00000455191.1_Silent_p.I81I|IQCG_ENST00000453254.1_Silent_p.I81I|IQCG_ENST00000480302.1_5'UTR	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	81										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GAACGGGCATGATGTAGTTCA	0.463000													8	87					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75082833G>A	ENST00000401621.2	-	10	1130	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_ENST00000310715.3_Missense_Mutation_p.S337L|TTC18_ENST00000394865.1_Missense_Mutation_p.S337L|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_Intron|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCATGAAACGAAAGCTGAGC	0.403000													5	52					0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241516008	241516008	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241516008C>T	ENST00000270357.3	+	9	1467	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	292					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		TGAGCCGGACCTGTCTCAGGG	0.667000													10	45					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11924018	11924018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11924018C>T	ENST00000256720.2	+	8	1313	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	LPIN1_ENST00000425416.2_Missense_Mutation_p.P413L|LPIN1_ENST00000396097.1_Missense_Mutation_p.P137L|LPIN1_ENST00000396098.1_Missense_Mutation_p.P449L|LPIN1_ENST00000449576.2_Missense_Mutation_p.P492L|LPIN1_ENST00000396099.1_Missense_Mutation_p.P449L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	407					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GACATGGATCCTGAAGTGGCG	0.433000													11	169					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49202121	49202121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49202121G>A	ENST00000371833.3	-	5	984	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	300										large_intestine(5)|lung(2)|skin(1)	8						CTTCCCAGATGGACCTGAGAG	0.478000													5	37					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49917396	49917396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:49917396G>A	ENST00000251250.6	+	3	239	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000329873.5_Missense_Mutation_p.R11Q|DTWD1_ENST00000403028.3_Missense_Mutation_p.R11Q|DTWD1_ENST00000558653.1_Missense_Mutation_p.R11Q	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	11										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTTCTCAAACGAAGTGAAGAA	0.328000													7	9					0	0	1	0	0
BEST4	266675	broad.mit.edu	37	1	45253068	45253068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45253068G>A	ENST00000372207.3	-	2	222	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	75						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					AAGGGAATGAGGTCTGCTGAG	0.572000													27	130					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52536615	52536615	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52536615G>A	ENST00000261839.7	-	19	2489	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	776	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTCTCGGAGGAATTTTTTCC	0.483000													7	68					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438787	120438787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120438787C>T	ENST00000424086.1	+	2	831	c.358C>T	c.(358-360)Cat>Tat	p.H120Y	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.H120Y|TMEM177_ENST00000401466.1_Missense_Mutation_p.H120Y	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	120						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAACACTAACCATCCCGTGGT	0.602000													37	247					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167381364	167381364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167381364C>T	ENST00000367862.5	+	14	1926	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	POU2F1_ENST00000429375.2_Missense_Mutation_p.P512L|POU2F1_ENST00000367866.2_Missense_Mutation_p.P575L|POU2F1_ENST00000420254.3_Missense_Mutation_p.P552L|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.P552L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	552					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACCTCCACTCCTTTGTCCTCC	0.602000													8	23					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39085927	39085927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39085927G>A	ENST00000295373.6	-	6	1589	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	488							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TACTATAACAGGTGCAGGACC	0.373000													9	62					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47043209	47043209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47043209C>T	ENST00000450053.3	+	30	4854	c.4675C>T	c.(4675-4677)Cgc>Tgc	p.R1559C	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1375C	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1559							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTACTTGATCGCCTGGGAGC	0.572000													11	65					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33603265	33603265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:33603265G>A	ENST00000389232.4	+	1	89	c.19G>A	c.(19-21)Gga>Aga	p.G7R	RYR3_ENST00000415757.3_Missense_Mutation_p.G7R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	7					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGGGGAGAAGGAGGCGAGGA	0.741000													7	40					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46723068	46723068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46723068C>T	ENST00000311764.2	+	2	402	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAGAGCCTTCCCCGGGGCTT	0.667000													7	77					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080268	10080268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10080268C>T	ENST00000264828.3	-	56	4166	c.4081G>A	c.(4081-4083)Ggg>Agg	p.G1361R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1361	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)			CCAGGGATCCCTCGAAGACCC	0.662000													3	21					0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35547963	35547963	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35547963C>T	ENST00000536438.1	-	10	1191	c.876G>A	c.(874-876)ggG>ggA	p.G292G	FKBP5_ENST00000539068.1_Silent_p.G292G|FKBP5_ENST00000357266.4_Silent_p.G292G|FKBP5_ENST00000540787.1_Silent_p.G113G	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	292					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						ACACTATCTTCCCATACTGAA	0.428000													8	90					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79219714	79219714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79219714G>A	ENST00000374759.3	-	16	3385	c.3002C>T	c.(3001-3003)cCg>cTg	p.P1001L		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1001					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCCGCCTCTCGGCTGCTCGTG	0.697000													8	58					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89910949	89910949	+	Missense_Mutation	SNP	G	G	A	rs143197057	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:89910949G>A	ENST00000435811.1	-	2	612	c.158C>T	c.(157-159)tCg>tTg	p.S53L	GABRR1_ENST00000454853.2_Missense_Mutation_p.S70L|GABRR1_ENST00000369451.3_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	70					gamma-aminobutyric acid signaling pathway|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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGTCAGAGGCGATTTGGTGAT	0.478000													6	85					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22291893	22291893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:22291893G>A	ENST00000324559.8	+	18	2251	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	645						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGAAAAGCTCGGACAAACTCT	0.413000													7	27					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34625778	34625778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:34625778C>T	ENST00000378909.2	-	2	444	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	118	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCCAGAAATTCCTTCCTCTTG	0.542000													5	71					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36768293	36768293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:36768293G>A	ENST00000416007.4	-	9	1118	c.1031C>T	c.(1030-1032)cCa>cTa	p.P344L	MBIP_ENST00000318473.7_Missense_Mutation_p.P343L|MBIP_ENST00000359527.7_3'UTR	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	344	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AGTTTTTCATGGAAGGTGGTG	0.363000													10	51					0	0	1	0	0
DMKN	93099	broad.mit.edu	37	19	36001155	36001155	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36001155C>T	ENST00000339686.3	-	6	1095		c.e6-1		DMKN_ENST00000447113.2_Splice_Site|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000418261.1_Splice_Site|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000414866.2_Splice_Site|DMKN_ENST00000443640.1_Splice_Site|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000402589.2_Splice_Site|DMKN_ENST00000458071.1_Splice_Site|DMKN_ENST00000392206.2_Splice_Site|DMKN_ENST00000602781.1_Splice_Site|DMKN_ENST00000424570.2_Splice_Site|DMKN_ENST00000429837.1_Splice_Site|DMKN_ENST00000419602.1_Splice_Site|DMKN_ENST00000462126.1_Splice_Site|DMKN_ENST00000480502.1_Splice_Site|DMKN_ENST00000440396.1_Splice_Site|DMKN_ENST00000451297.2_Splice_Site|DMKN_ENST00000436012.1_Splice_Site|DMKN_ENST00000472252.2_Splice_Site|DMKN_ENST00000467637.1_Splice_Site|DMKN_ENST00000488892.1_Splice_Site	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine							extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCTGGATCCCTGCAGGGGAA	0.572000											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685857	125685857	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685857G>A	ENST00000371126.1	-	1	977	c.735C>T	c.(733-735)atC>atT	p.I245I		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	245										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCTCGGACGGATGTGGGCAT	0.652000													7	34					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757636	53757636	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:53757636G>A	ENST00000288139.3	+	14	2020	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G	CACNA1D_ENST00000422281.2_Silent_p.G614G|CACNA1D_ENST00000350061.5_Silent_p.G614G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	614					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCCCCTGGGGATCTCTGTGT	0.473000													34	153					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190842	32190842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32190842G>A	ENST00000375023.3	-	2	233	c.95C>T	c.(94-96)cCa>cTa	p.P32L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	32	EGF-like 1.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACAGGGTTCTGGGAAACTCCC	0.607000													9	163					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923469	117923469	+	Silent	SNP	G	G	A	rs75821910	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117923469G>A	ENST00000425217.1	-	15	2214	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	KSR2_ENST00000339824.5_Silent_p.S749S|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	749	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTCACAACGGAATAGAGCG	0.448000													5	59					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91773492	91773492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91773492C>T	ENST00000389857.6	-	18	3171	c.3085G>A	c.(3085-3087)Ggg>Agg	p.G1029R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1029					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTGTCTTCCCCGCAGGGTGC	0.597000													6	43					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511084	76511084	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76511084G>A	ENST00000389840.5	-	26	3997	c.3873C>T	c.(3871-3873)gaC>gaT	p.D1291D	DNAH17_ENST00000585328.1_Silent_p.D1292D					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTCTTCCAGTCCTCGATGC	0.433000													6	62					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596549	50596549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50596549C>T	ENST00000262794.5	+	23	3213	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	MOV10L1_ENST00000395852.1_Silent_p.L171L|MOV10L1_ENST00000395858.3_Silent_p.L1044L|MOV10L1_ENST00000354853.2_Silent_p.L87L|MOV10L1_ENST00000540615.1_Silent_p.L1024L|MOV10L1_ENST00000395843.1_Silent_p.L87L|MOV10L1_ENST00000545383.1_Silent_p.L1044L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1044					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CGTCCAGGTCCTGCGCTACTG	0.612000													18	60					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90451591	90451591	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90451591G>A	ENST00000357484.5	-	3	342	c.222C>T	c.(220-222)ttC>ttT	p.F74F	C15orf38-AP3S2_ENST00000398333.3_Silent_p.F74F|C15orf38_ENST00000460685.1_5'UTR	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38									p.F74F(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCTTGGCGTCGAATTTACGGC	0.582000													12	52					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27371943	27371943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27371943G>A	ENST00000323372.4	+	2	507	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	61					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGCGTACCTGGAAGACTTTTA	0.527000													11	68					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527202	6527202	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6527202G>A	ENST00000263125.5	-	10	1029	c.930C>T	c.(928-930)atC>atT	p.I310I	PRKCQ_ENST00000397176.2_Silent_p.I310I|PRKCQ_ENST00000539722.1_Silent_p.I185I	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	310					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						CTTCTCTGAAGATCTGTTCAG	0.507000													13	69					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71630223	71630223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71630223C>T	ENST00000226328.4	+	4	1065	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RUFY3_ENST00000502653.1_Missense_Mutation_p.R115C|RUFY3_ENST00000417478.2_Missense_Mutation_p.R228C|RUFY3_ENST00000536664.1_Missense_Mutation_p.R152C|RUFY3_ENST00000381006.3_Missense_Mutation_p.R168C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	168	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGCCTGGCTTCGTTTGGCATT	0.368000													6	74					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44408953	44408953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44408953C>T	ENST00000342649.4	+	5	752	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TCAIM_ENST00000417237.1_Nonsense_Mutation_p.R109*	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		TCTAGGATTTCGAGCAGTCAA	0.303000													5	28					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													5	35					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139207533	139207533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139207533C>T	ENST00000395297.1	-	9	1011	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	281										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)			GAAAGTGTTTCTTCAACAGCA	0.408000										HNSCC(54;0.14)			6	79					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595055	1595055	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1595055C>T	ENST00000297477.5	-	2	382	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	22						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGGGGCTGGGCTGCGGCCAGT	0.682000													18	93					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19049239	19049239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19049239G>A	ENST00000421369.3	+	8	1277	c.719G>A	c.(718-720)aGg>aAg	p.R240K	TMC7_ENST00000304381.5_Missense_Mutation_p.R350K|TMC7_ENST00000569532.1_Missense_Mutation_p.R350K|TMC7_ENST00000561963.1_3'UTR	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	350						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATAGCAGAAAGGACCTCAGAA	0.403000													6	38					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290335	2290335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2290335G>A	ENST00000381458.5	+	2	103	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	14					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CTGGCAGACGGCCTTCAACCG	0.527000													9	59					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857944	9857944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:9857944C>T	ENST00000396573.2	-	14	3766	c.3457G>A	c.(3457-3459)Gat>Aat	p.D1153N	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D996N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D1153N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1153N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D1153N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1153N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1153					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.D1153N(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACTGGGATCCTGGTAGGGG	0.522000													10	74					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4356465	4356465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4356465C>T	ENST00000355530.2	+	8	1358	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.L233F	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	360					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTACCTGGCTCTCGTCCTGGC	0.627000													10	135					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605530	48605530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48605530C>T	ENST00000328333.8	-	105	7975	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537000													15	56					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347402	71347402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:71347402C>T	ENST00000413702.1	+	4	1229	c.941C>T	c.(940-942)tCc>tTc	p.S314F	MUC7_ENST00000456088.1_Missense_Mutation_p.S314F|MUC7_ENST00000304887.5_Missense_Mutation_p.S314F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	314	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCTAATTCTTCCCCAACTACT	0.512000													7	89					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343409	248343409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248343409G>A	ENST00000359682.2	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCTTCATGGGAAACTCTGTC	0.517000													13	109					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228585	57228585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:57228585C>T	ENST00000396721.2	-	2	452	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SDR16C5_ENST00000303749.3_Missense_Mutation_p.V108I|SDR16C5_ENST00000522671.1_Missense_Mutation_p.V108I			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	108					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TGGTCGGCTACTCTATACACT	0.463000													9	104					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15367917	15367917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15367917G>A	ENST00000263377.2	-	8	1630	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	BRD4_ENST00000371835.4_Missense_Mutation_p.S470F|BRD4_ENST00000360016.5_Missense_Mutation_p.S470F|BRD4_ENST00000602230.1_5'UTR	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	470					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACTGCCGGGGAGGACACGGC	0.617000			T	C15orf55	lethal midline carcinoma of young people								6	43					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661521	36661521	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661521G>A	ENST00000319136.4	+	7	954	c.687G>A	c.(685-687)gaG>gaA	p.E229E	APOL1_ENST00000426053.1_Silent_p.E195E|APOL1_ENST00000422706.1_Silent_p.E213E|APOL1_ENST00000397279.4_Silent_p.E213E|APOL1_ENST00000397278.3_Silent_p.E213E|APOL1_ENST00000347595.7_Silent_p.E92E|APOL1_ENST00000440669.2_3'UTR	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	213					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTGGGATGGAGTTGGGAATCA	0.562000													15	129					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21225563G>A	ENST00000233242.1	-	29	12858	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGAAATAGGAAAACAGTAT	0.378000													68	158					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882852	126882852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:126882852C>T	ENST00000339582.2	-	2	1215	c.407G>A	c.(406-408)gGa>gAa	p.G136E	GRM8_ENST00000444921.2_Missense_Mutation_p.G136E|GRM8_ENST00000358373.3_Missense_Mutation_p.G136E|GRM8_ENST00000405249.1_Missense_Mutation_p.G136E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	136					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGGTGGATCTCCATTAGCACA	0.468000										HNSCC(24;0.065)			10	25					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139218319	139218319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:139218319C>T	ENST00000274710.3	+	13	2135	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	644					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)			GAAGTTCTGTCGGCCCCTGCT	0.617000													7	37					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885561	63885561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63885561G>A	ENST00000246841.3	+	2	2865	c.1822G>A	c.(1822-1824)Gat>Aat	p.D608N	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	580					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GACCAAGAAGGATAACTCCAT	0.592000													5	60					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97329621	97329621	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97329621C>T	ENST00000375337.3	-	5	702	c.636G>A	c.(634-636)ctG>ctA	p.L212L	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	212					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				AGCCCTCATTCAGGCTGTAAA	0.448000													15	91					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23937634	23937634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:23937634C>T	ENST00000402377.3	-	3	358	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZNF681_ENST00000395385.3_Missense_Mutation_p.E4K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTGGGGGTTCGGCCACCATC	0.418000													12	50					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298147	36298147	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298147G>A	ENST00000437635.2	-	2	498	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	107										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CCGTCCTCACGAAGAAGTTCA	0.632000													7	69					0	0	1	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874685	111874685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:111874685G>A	ENST00000371968.3	-	4	865	c.626C>T	c.(625-627)tCt>tTt	p.S209F	LHFPL1_ENST00000536453.1_Missense_Mutation_p.S176F|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	209						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CATAGCATAAGAATTGGTATT	0.493000													5	27					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208773295	208773295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208773295G>A	ENST00000457206.1	-	7	2364	c.1937C>T	c.(1936-1938)tCc>tTc	p.S646F	PLEKHM3_ENST00000389247.4_Silent_p.F631F|PLEKHM3_ENST00000427836.2_Silent_p.F631F			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	0					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCTCTGGGGAAAATTCTGA	0.438000													11	52					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547262	28547262	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28547262G>A	ENST00000357727.2	+	4	588	c.198G>A	c.(196-198)ctG>ctA	p.L66L	CREB5_ENST00000396299.2_Silent_p.L33L|CREB5_ENST00000409603.1_Silent_p.L33L|CREB5_ENST00000396300.2_Silent_p.L59L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	66					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGAGATTCCTGAAGAACTGCG	0.522000													11	331					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351265	40351265	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40351265C>T	ENST00000310169.2	+	4	871	c.732C>T	c.(730-732)ctC>ctT	p.L244L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	244					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCGTCAACCTCCTCATCCCAT	0.517000													22	237					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164531	85164531	+	Missense_Mutation	SNP	G	G	A	rs144452460		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:85164531G>A	ENST00000448803.2	+	3	1397	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E368K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E369K|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E219K|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	369					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E369K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGAATGCGGCGAAAGCTTTAG	0.502000													8	102					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12908038	12908038	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473000													4	76					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147377	129147377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129147377C>T	ENST00000540052.1	+	3	673	c.629C>T	c.(628-630)tCg>tTg	p.S210L	BCORL1_ENST00000359304.2_Missense_Mutation_p.S210L|BCORL1_ENST00000218147.7_Missense_Mutation_p.S210L|BCORL1_ENST00000303743.5_Missense_Mutation_p.S210L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	210	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTCCCGGTTCGGCCTCTGTG	0.617000													10	80					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	233185	233185	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:233185G>A	ENST00000382743.4	-	3	606	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000532956.1_Silent_p.L168L|SIRT3_ENST00000524564.1_Silent_p.L104L|SIRT3_ENST00000525319.1_Silent_p.L87L|SIRT3_ENST00000529382.1_Silent_p.L26L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	168	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CGTACTGCTGGAGGTTGCTGT	0.547000													4	28					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086314	55086314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55086314G>A	ENST00000251377.3	+	5	602	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.E157K|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.E157K|LILRA2_ENST00000391737.1_Missense_Mutation_p.E145K					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTGTGTAAGGAAGGAGAAGA	0.602000													24	89					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904392	73904392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:73904392C>T	ENST00000342056.2	+	15	2509	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	KCNQ5_ENST00000355635.3_Missense_Mutation_p.S686L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.S575L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.S695L|KCNQ5_ENST00000403813.2_Missense_Mutation_p.S676L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.S685L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.S685L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	685					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCAACATCTCGAGAGGCCTG	0.488000													8	78					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333148	42333148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42333148C>T	ENST00000262418.6	-	14	1848	c.1693G>A	c.(1693-1695)Ggc>Agc	p.G565S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	565	Involved in anion transport.|Membrane (anion exchange).		G -> A (in WU antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCAGGGGGCCCTGAGGTTTG	0.527000													15	143					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390814	197390814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390814G>A	ENST00000367400.3	+	6	1991	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	CRB1_ENST00000367399.2_Missense_Mutation_p.G507E|CRB1_ENST00000535699.1_Missense_Mutation_p.G550E|CRB1_ENST00000538660.1_Missense_Mutation_p.G619E|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G100E|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	619	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTACCAGTGGGAATGACCAGC	0.418000													6	57					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154241257	154241257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154241257C>T	ENST00000428931.1	+	26	3162	c.2995C>T	c.(2995-2997)Cat>Tat	p.H999Y	UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000271877.7_Missense_Mutation_p.H1009Y|UBAP2L_ENST00000361546.2_Missense_Mutation_p.H999Y	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	999					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAAGGTTTTCATTCCGGTAC	0.537000													12	130					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52534337	52534337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52534337G>A	ENST00000242839.4	-	7	2224	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.P690S|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.P579S|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.P690S|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	690			P -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GACAGTCCTGGAATGATGTTG	0.483000									Wilson disease				10	50					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328125	74328125	+	Nonsense_Mutation	SNP	C	C	T	rs146867846		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74328125C>T	ENST00000268059.6	+	8	2419	c.2323C>T	c.(2323-2325)Cag>Tag	p.Q775*	PML_ENST00000268058.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Nonsense_Mutation_p.Q727*|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAGCAGAGCCCAGACTCTTGG	0.567000			T	"""RARA, PAX5"""	"""APL, ALL"""								7	55					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610067	47610067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47610067G>A	ENST00000371891.3	+	7	860	c.829G>A	c.(829-831)Gag>Aag	p.E277K	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.E277K|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G225E	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	277						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTACAGAAGGAGGGGGAGCT	0.532000													4	92					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109069	58109069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58109069G>A	ENST00000357272.4	+	21	3541	c.3376G>A	c.(3376-3378)Gac>Aac	p.D1126N	FLNB_ENST00000348383.5_Missense_Mutation_p.D1126N|FLNB_ENST00000490882.1_Missense_Mutation_p.D1126N|FLNB_ENST00000493452.1_Missense_Mutation_p.D957N|FLNB_ENST00000295956.4_Missense_Mutation_p.D1126N|FLNB_ENST00000419752.2_Missense_Mutation_p.D957N|FLNB_ENST00000358537.3_Missense_Mutation_p.D1126N|FLNB_ENST00000429972.2_Missense_Mutation_p.D1126N			O75369	FLNB_HUMAN	filamin B, beta	1126					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTTCAAAGCTGACATTGAAAT	0.557000													13	124					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42626697	42626697	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42626697C>T	ENST00000389341.5	-	2	126	c.60G>A	c.(58-60)gaG>gaA	p.E20E	POU2F2_ENST00000529067.1_Silent_p.E20E|POU2F2_ENST00000342301.4_Silent_p.E20E|POU2F2_ENST00000560398.1_Silent_p.E20E|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000560558.1_Silent_p.E20E|POU2F2_ENST00000526816.2_Silent_p.E20E|POU2F2_ENST00000533720.1_Silent_p.E20E|POU2F2_ENST00000529952.1_Silent_p.E20E	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	20					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GACCTTGCTTCTCGGCCTCCA	0.622000													4	33					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675659	43675659	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43675659C>T	ENST00000528956.1	+	11	2147	c.2001C>T	c.(1999-2001)acC>acT	p.T667T	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCTTCAACCTCCCAATGTC	0.468000													4	40					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27300482	27300482	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27300482C>T	ENST00000397501.1	+	27	2938	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	PTK2B_ENST00000544172.1_Silent_p.F710F|PTK2B_ENST00000517339.1_Silent_p.F710F|PTK2B_ENST00000338238.4_Silent_p.F710F|PTK2B_ENST00000397497.4_Silent_p.F456F|PTK2B_ENST00000420218.2_Silent_p.F710F|PTK2B_ENST00000346049.5_Silent_p.F710F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	710	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCACAGCCTTCCAGGAACCCC	0.547000													4	52					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228172560	228172560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228172560G>A	ENST00000396578.3	+	48	4549	c.4387G>A	c.(4387-4389)Ggg>Agg	p.G1463R	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1463	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGTCCAGAGGGGACAGTGCC	0.502000													9	40					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80352305	80352305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80352305G>A	ENST00000329197.5	-	9	1028	c.938C>T	c.(937-939)cCg>cTg	p.P313L	OGFOD3_ENST00000313056.5_Intron					2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CCTCTCGGGCGGGTGGTGAGT	0.552000													16	133					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89661103	89661103	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89661103G>A	ENST00000355754.6	-	3	337	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	80						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGCCCAGAGGGAAGCCTGCAG	0.512000													11	50					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995274	140995274	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140995274C>A	ENST00000285879.4	+	4	2370	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAAATTCCTCAGAGTCCT	0.567000										HNSCC(15;0.026)			5	30					1.23904e-05	1.25664e-05	1	1	0
G6PC	2538	broad.mit.edu	37	17	41063293	41063293	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41063293C>T	ENST00000253801.2	+	5	1003	c.924C>T	c.(922-924)gtC>gtT	p.V308V	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	308					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCTGCACGTCTTTGACTCCT	0.562000													26	156					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877785	150877785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:150877785G>A	ENST00000474524.1	+	7	1042	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	MED12L_ENST00000309237.4_Missense_Mutation_p.G335D|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.G335D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCAGCCCTGGCCCCCCCGGC	0.582000													9	110					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104071241	104071241	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104071241T>A	ENST00000388887.2	+	25	2861	c.2657T>A	c.(2656-2658)aTc>aAc	p.I886N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	886	EGF-like 8.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCAGAATGCATCAAAACTGGC	0.507000													9	77					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892254	72892254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72892254G>A	ENST00000339594.4	-	7	1875	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R513C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	513	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCTGGGAGACGAGCTCTATCT	0.438000													6	59					0	0	1	0	0
SIT1	27240	broad.mit.edu	37	9	35650597	35650597	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35650597G>A	ENST00000259608.3	-	2	224	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	46					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTAAGAGGACCCACAGTC	0.652000													10	54					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126507	205126507	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205126507A>G	ENST00000367162.3	-	10	2276	c.2246T>C	c.(2245-2247)cTg>cCg	p.L749P	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.L749P	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	749	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTCCAGGGTCAGCCCAGCCTT	0.468000													5	25					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18327613	18327613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18327613C>T	ENST00000355502.3	-	16	2294	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	PDE4C_ENST00000594465.2_Missense_Mutation_p.D475N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Missense_Mutation_p.D475N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D369N|PDE4C_ENST00000262805.11_Missense_Mutation_p.D443N|PDE4C_ENST00000539010.1_Missense_Mutation_p.D244N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	475					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGGAAGATATCGCAGTTCTCT	0.602000													25	68					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402493	65402493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65402493C>T	ENST00000355703.3	+	30	5394	c.4855C>T	c.(4855-4857)Cgc>Tgc	p.R1619C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1619						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGGGATTTTCGCATCACCTC	0.622000													10	27					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89523814	89523814	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89523814C>T	ENST00000370473.4	-	6	954	c.735G>A	c.(733-735)agG>agA	p.R245R		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	245					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGGCAAGCTTCCTGCGGTGAA	0.438000													7	110					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4051787	4051787	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4051787G>A	ENST00000404826.2	+	16	2479	c.2340G>A	c.(2338-2340)cgG>cgA	p.R780R	SDK1_ENST00000389531.3_Silent_p.R780R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	780	Fibronectin type-III 2.				cell adhesion	integral to membrane		p.R780R(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGTGGGCGGACTAATCAGT	0.517000													15	168					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161929	239161929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239161929G>A	ENST00000254657.3	-	19	3014	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	912	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CGAGGGGAAGGAATAACTGGG	0.627000													24	72					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56089462	56089462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:56089462G>A	ENST00000373965.2	-	7	993	c.599C>T	c.(598-600)tCc>tTc	p.S200F	PCDH15_ENST00000395430.1_Missense_Mutation_p.S200F|PCDH15_ENST00000373955.1_Missense_Mutation_p.S200F|PCDH15_ENST00000361849.3_Missense_Mutation_p.S200F|PCDH15_ENST00000320301.6_Missense_Mutation_p.S200F|PCDH15_ENST00000395445.1_Missense_Mutation_p.S200F|PCDH15_ENST00000437009.1_Missense_Mutation_p.S200F|PCDH15_ENST00000395438.1_Missense_Mutation_p.S200F|PCDH15_ENST00000373957.3_Missense_Mutation_p.S178F|PCDH15_ENST00000395442.1_Missense_Mutation_p.S200F|PCDH15_ENST00000414778.1_Missense_Mutation_p.S205F|PCDH15_ENST00000395440.1_Missense_Mutation_p.S200F|PCDH15_ENST00000395433.1_Missense_Mutation_p.S178F|PCDH15_ENST00000395446.1_Missense_Mutation_p.S200F|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000409834.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	200	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGTGTCATTGGATGTCTGCAA	0.323000										HNSCC(58;0.16)			3	9					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888752	23888752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23888752C>T	ENST00000355349.3	-	28	3955	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1265					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTGGGTCTCCTCCGCCTTG	0.562000													11	105					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46496338	46496338	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46496338C>T	ENST00000361297.2	+	22	2896	c.2613C>T	c.(2611-2613)acC>acT	p.T871T	MAST2_ENST00000372009.2_Silent_p.T801T|MAST2_ENST00000372008.1_Silent_p.T756T	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	871					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CACCCCCGACCAAGCGCAGCC	0.652000													5	11					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117808905	117808905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117808905G>A	ENST00000350763.4	-	17	5320	c.4909C>T	c.(4909-4911)Cgt>Tgt	p.R1637C	TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.R1273C|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Missense_Mutation_p.R1091C|TNC_ENST00000341037.4_Missense_Mutation_p.R1455C|TNC_ENST00000542877.1_Missense_Mutation_p.R1274C|TNC_ENST00000535648.1_Missense_Mutation_p.R1182C|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1637	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGACAGACGGAAACCGTCT	0.483000													3	18					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607200	17607200	+	Missense_Mutation	SNP	G	G	A	rs138012325		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607200G>A	ENST00000375460.3	+	15	1710	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	557					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGCTGAAGCGGGAGCTGGGC	0.592000													22	76					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76330014	76330014	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:76330014C>T	ENST00000298832.9	+	29	3536	c.3331C>T	c.(3331-3333)Ctg>Ttg	p.L1111L	TTLL5_ENST00000556893.1_Silent_p.L662L|TTLL5_ENST00000557636.1_Silent_p.L1126L|TTLL5_ENST00000554510.1_Silent_p.L620L	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1111					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)		CTTCAGGAGCCTGCAGACAGG	0.488000													8	33					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5841745	5841745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5841745C>T	ENST00000356134.5	-	16	1560	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.E497K|ANO2_ENST00000327087.8_Missense_Mutation_p.E496K	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	501						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGGTTGCTCTCCTTTAGCATT	0.453000													5	31					0	0	1	0	0
ZNF511	118472	broad.mit.edu	37	10	135125306	135125306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135125306C>T	ENST00000359035.3	+	5	644	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ZNF511_ENST00000361518.5_Missense_Mutation_p.S214F|ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000368554.4_Missense_Mutation_p.S149F			Q8NB15	ZN511_HUMAN	zinc finger protein 511	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GTGGCAGCCTCCCCTGCACCG	0.597000													4	84					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983289	2983289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2983289G>A	ENST00000342628.2	-	2	469	c.356C>T	c.(355-357)cCa>cTa	p.P119L	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Missense_Mutation_p.P119L|FOXM1_ENST00000361953.3_Missense_Mutation_p.P119L	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	119					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCGGAGTCCTGGAGGCTGAGT	0.537000													7	123					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091236	9091236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9091236C>T	ENST00000397910.4	-	1	782	c.579G>A	c.(577-579)atG>atA	p.M193I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	193	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAATGTTTTCATTGGAGATG	0.458000													12	51					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012810	67012810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67012810C>T	ENST00000529006.2	+	14	2160	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	KDM2A_ENST00000530342.1_Nonsense_Mutation_p.R133*|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Nonsense_Mutation_p.R572*|KDM2A_ENST00000308783.5_Nonsense_Mutation_p.R30*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGTGCGATGTCGAAAATGCAA	0.552000													11	39					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAGGTGGCCGAAGTCGAGAC	0.652000													8	35					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924268	24924268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24924268C>T	ENST00000329468.2	+	1	3728	c.3254C>T	c.(3253-3255)gCc>gTc	p.A1085V		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACTTCTGCTGCCGCCTACATT	0.542000													9	67					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5461798	5461798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5461798C>T	ENST00000345221.3	-	4	2772	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	NLRP1_ENST00000262467.5_Missense_Mutation_p.E740K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E740K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E740K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E740K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.E740K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	740					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATGCCCATTTCTTCGAAATGG	0.512000													9	85					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35509089	35509089	+	Missense_Mutation	SNP	G	G	A	rs143460335		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35509089G>A	ENST00000217320.3	+	4	418	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	TLDC2_ENST00000602922.1_Missense_Mutation_p.R125Q	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		TCGGCTATCCGACTCAGCAAA	0.547000													11	110					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163511	139163511	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139163511C>T	ENST00000395297.1	-	13	3377	c.3207G>A	c.(3205-3207)caG>caA	p.Q1069Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1069								p.Q1069H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATCCCAAAGGCTGATGGGTGA	0.527000										HNSCC(54;0.14)			5	34					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108029148	108029148	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:108029148G>A	ENST00000280758.5	+	12	3246	c.2718G>A	c.(2716-2718)cgG>cgA	p.R906R	BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000490090.2_Silent_p.R906R|BTBD11_ENST00000420571.2_Silent_p.R787R|BTBD11_ENST00000357167.4_Silent_p.R443R	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	906						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAATCAAACGGAAACAGACCT	0.527000													4	45					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3117819	3117819	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3117819C>T	ENST00000355072.5	+	8	1042	c.897C>T	c.(895-897)ctC>ctT	p.L299L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	299					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAGGCTTACTCGTTCCTGTCG	0.498000													12	122					0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25014024	25014024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25014024C>T	ENST00000382114.4	-	7	938	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	251						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TGCAGTTCTCCATGCTGGGCT	0.473000													5	49					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039877	62039877	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62039877G>A	ENST00000354587.3	-	16	1976	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	KCNQ2_ENST00000370224.1_Silent_p.I600I|KCNQ2_ENST00000370226.1_Silent_p.I562I|KCNQ2_ENST00000360480.3_Silent_p.I564I|KCNQ2_ENST00000359125.2_Silent_p.I592I|KCNQ2_ENST00000357249.2_Silent_p.I574I|KCNQ2_ENST00000344462.3_Silent_p.I588I|KCNQ2_ENST00000359689.1_Silent_p.I592I|KCNQ2_ENST00000430658.1_Silent_p.I561I			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	597					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)	CCCGCCCCACGATCTGGTCCA	0.697000													4	19					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409765	69409765	+	Silent	SNP	C	C	T	rs150501629		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69409765C>T	ENST00000303714.4	+	16	1648	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCCTTCTTCCCCCCGGAAGT	0.423000									Familial Infantile Hemangioma				11	73					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845857	70845857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:70845857G>A	ENST00000542342.2	-	6	626	c.538C>T	c.(538-540)Cga>Tga	p.R180*	SLC39A11_ENST00000579732.1_Nonsense_Mutation_p.R173*|SLC39A11_ENST00000255559.3_Nonsense_Mutation_p.R173*	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	180					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGATTCCCTCGAGAAGGCACA	0.562000													9	71					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925556	45925556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45925556G>A	ENST00000395629.2	+	7	1810	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.E504K			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	504	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCTCGACACGAAGACGAACT	0.602000													6	80					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542880	14542880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14542880G>A	ENST00000358970.5	-	1	265	c.266C>T	c.(265-267)tCc>tTc	p.S89F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	89								p.S89Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCATAAAGGAGTTGTCATG	0.607000													9	122					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73670595	73670595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:73670595C>T	ENST00000339764.1	+	3	980	c.229C>T	c.(229-231)Cct>Tct	p.P77S		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	77					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					GGGTGGGATTCCTTTGGAGTT	0.517000													4	52					0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024933	138024933	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138024933C>T	ENST00000383180.2	-	9	603	c.366G>A	c.(364-366)caG>caA	p.Q122Q	NME9_ENST00000333911.3_Silent_p.Q183Q|NME9_ENST00000317876.4_Silent_p.Q122Q|NME9_ENST00000536478.1_Silent_p.Q122Q|NME9_ENST00000341790.5_Silent_p.Q120Q|NME9_ENST00000484930.1_Silent_p.Q120Q	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	183					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACCCAGCTTCCTGAATCTGTA	0.348000													9	189					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41895768	41895768	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41895768C>T	ENST00000396512.3	+	2	92	c.75C>T	c.(73-75)gtC>gtT	p.V25V	ACO2_ENST00000216254.4_Silent_p.V25V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	25					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCCTCAGTCCTGTGCCAAC	0.527000													25	247					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003027	39003027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39003027G>A	ENST00000355481.4	+	63	9507	c.9376G>A	c.(9376-9378)Ggc>Agc	p.G3126S	RYR1_ENST00000359596.3_Missense_Mutation_p.G3126S|RYR1_ENST00000360985.3_Missense_Mutation_p.G3126S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3126					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAAAGGCGTGGGCCAGAACCT	0.622000													4	47					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985384	240985384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240985384G>A	ENST00000319423.4	-	1	105	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGACAAAGAGGTAGGTGAGC	0.592000													10	97					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724753	38724753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:38724753C>T	ENST00000342213.2	-	1	821	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	159	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CATCGCATCTCCTTCCAGCCT	0.677000													5	48					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67147886	67147886	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:67147886C>T	ENST00000478722.1	+	2	1247	c.126C>T	c.(124-126)ctC>ctT	p.L42L	GPHN_ENST00000543237.1_Silent_p.L42L|GPHN_ENST00000315266.5_Silent_p.L42L|GPHN_ENST00000459628.1_Silent_p.L42L|GPHN_ENST00000305960.9_Silent_p.L42L	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	42	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	p.L42L(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TCAAAGATCTCGTACAAGATC	0.299000			T	MLL	AL								3	14					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109808508	109808508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109808508C>T	ENST00000271332.3	+	14	5940	c.5879C>T	c.(5878-5880)cCt>cTt	p.P1960L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1960	Laminin EGF-like.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTGACAACCCTTTTGCTGAG	0.607000													84	343					0	0	1	0	0
SMYD3	64754	broad.mit.edu	37	1	245927442	245927442	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:245927442G>A	ENST00000490107.1	-	11	1125	c.909C>T	c.(907-909)ttC>ttT	p.F303F	SMYD3_ENST00000388985.4_Silent_p.F362F|SMYD3_ENST00000541742.1_Silent_p.F303F|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	362						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCTTCCTGGGAAAAAAATCC	0.483000													11	26					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429567	29429567	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29429567C>T	ENST00000377136.1	+	4	486	c.21C>T	c.(19-21)ccC>ccT	p.P7P	OR2H1_ENST00000377133.1_Silent_p.P7P|OR2H1_ENST00000442615.1_Silent_p.P7P|OR2H1_ENST00000396792.2_Silent_p.P7P|OR2H1_ENST00000377132.1_Silent_p.P7P|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						AAAGCTCCCCCATGGGCTTCC	0.522000													7	79					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113887169	113887169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113887169C>T	ENST00000361779.3	+	4	376	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	IL1RN_ENST00000409930.3_Nonsense_Mutation_p.Q45*|IL1RN_ENST00000354115.2_Nonsense_Mutation_p.Q27*|IL1RN_ENST00000259206.5_Nonsense_Mutation_p.Q48*|IL1RN_ENST00000409052.1_Nonsense_Mutation_p.Q11*	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	45					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	GGATGTTAACCAGAAGACCTT	0.483000									Lichen Sclerosis et Atrophicus, Familial Clustering of				14	112					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70145775	70145775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70145775C>T	ENST00000374299.3	-	12	1892	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.G583D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	583					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GATCCCATAGCCGAAGTAGAT	0.507000													10	33					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104231	53104231	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53104231G>A	ENST00000408890.4	+	1	883	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	289										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGGTCACCCAGTCTGCTGGCC	0.612000													4	66					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644011	37644011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37644011G>A	ENST00000356958.4	-	5	1048	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.H209Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H209Y|ZNF585A_ENST00000355533.2_Missense_Mutation_p.H209Y			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCGCCTGTATGGATTTTCTGA	0.428000													21	129					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031210	43031210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43031210C>T	ENST00000161559.6	-	2	541	c.407G>A	c.(406-408)gGa>gAa	p.G136E	CEACAM1_ENST00000599389.1_Missense_Mutation_p.G136E|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G136E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G136E|CEACAM1_ENST00000351134.3_Missense_Mutation_p.G136E|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G96E|CEACAM1_ENST00000352591.5_Missense_Mutation_p.G136E|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G136E	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	136	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ATGGAACTGTCCAGTTGCTTC	0.498000													13	250					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10703324	10703324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10703324C>T	ENST00000377022.3	-	19	4230	c.3913G>A	c.(3913-3915)Gag>Aag	p.E1305K	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGCAGCCCTCCCGGATGCAG	0.632000													7	41					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107393942	107393942	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:107393942T>A	ENST00000440859.2	+	3	735	c.268T>A	c.(268-270)Ttt>Att	p.F90I	CBLL1_ENST00000222597.2_Missense_Mutation_p.F89I|CBLL1_ENST00000415884.2_Missense_Mutation_p.F90I	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	90					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TGGACACCTTTTTTGGGACTT	0.284000													5	31					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922621	37922621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37922621C>T	ENST00000346872.3	-	8	1013	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	IKZF3_ENST00000377944.3_Missense_Mutation_p.E175K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E284K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E262K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E245K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E223K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E136K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E184K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E97K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E71K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E231K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E279K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E279K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E240K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	318					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGCAGGGCTTCGGCGCCAAGA	0.532000													8	59					0	0	1	0	0
THAP6	152815	broad.mit.edu	37	4	76452307	76452307	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76452307G>A	ENST00000311638.3	+	5	620	c.552G>A	c.(550-552)agG>agA	p.R184R	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000380837.3_Silent_p.R142R|THAP6_ENST00000514480.1_Silent_p.R184R	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	184						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATCATTGAGGAAGACAATCA	0.398000													6	27					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757919	116757919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116757919G>A	ENST00000331677.3	+	7	2732	c.2288G>A	c.(2287-2289)cGa>cAa	p.R763Q	DSE_ENST00000359564.2_Missense_Mutation_p.R763Q|DSE_ENST00000452085.3_Missense_Mutation_p.R763Q|DSE_ENST00000537543.1_Missense_Mutation_p.R782Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	763					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATACTGTCCCGAGTCCGGAAC	0.473000													7	25					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581704	140581704	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140581704A>T	ENST00000354757.3	+	1	2357	c.2357A>T	c.(2356-2358)aAc>aTc	p.N786I	PCDHB11_ENST00000536699.1_Missense_Mutation_p.N421I	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		786					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGAAGAAAACTCCACCTTT	0.338000													7	26					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527617	65527617	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:65527617G>A	ENST00000310193.3	-	4	1196	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	341					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTTCTCTGGTGAGGTGGATGG	0.448000													5	14					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43144299	43144299	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43144299C>T	ENST00000265354.4	+	4	1414	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A	SRF_ENST00000457278.2_Silent_p.A148A	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	352					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCAGTGGCCCAGCAGGTCC	0.617000													8	70					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428425	1428425	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1428425G>A	ENST00000355432.3	+	11	1226	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G	CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGACACGGGGGAACTGTTTTC	0.493000													12	146					0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042955	31042955	+	Silent	SNP	C	C	T	rs117790300	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31042955C>T	ENST00000343605.4	+	2	1789	c.990C>T	c.(988-990)ttC>ttT	p.F330F	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	330						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACTGCGAGTTCGTGGCCTCCT	0.632000													6	62					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207695	140207695	+	Missense_Mutation	SNP	G	G	A	rs17844300		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140207695G>A	ENST00000529310.1	+	1	133	c.19G>A	c.(19-21)Gat>Aat	p.D7N	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D7N	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCCCGGAGGATAGATTGGG	0.488000													16	112					0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144800	100144800	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:100144800G>A	ENST00000370575.4	-	15	1627	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	527							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AGCTGGTCCAGGGACATGGCG	0.607000													4	31					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780258	169780258	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169780258G>A	ENST00000263817.6	-	28	3964	c.3840C>T	c.(3838-3840)atC>atT	p.I1280I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1280	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCGCGTTCTGGATGGTGGACA	0.507000													5	49					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741975	140741975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140741975C>T	ENST00000522605.1	+	1	2273	c.2273C>T	c.(2272-2274)tCa>tTa	p.S758L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTGCCTCACAATCAGCC	0.493000													25	134					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475769	27475769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27475769G>A	ENST00000356183.4	-	34	5759	c.5744C>T	c.(5743-5745)gCt>gTt	p.A1915V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A1915V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1915						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTCTTCAAGAGCTGGGGGTGG	0.652000													15	124					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46485071	46485071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46485071C>T	ENST00000231751.4	-	13	1811	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	LTF_ENST00000426532.2_Missense_Mutation_p.E462K|LTF_ENST00000417439.1_Missense_Mutation_p.E504K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	506	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGAAATATTCATCTGGAGAG	0.502000													11	142					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581439	7581439	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7581439G>A	ENST00000379802.3	+	23	5357	c.5016G>A	c.(5014-5016)caG>caA	p.Q1672Q	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1672	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCAGGAACAGGAAAGTGTCA	0.493000													4	85					0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47485900	47485900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47485900G>A	ENST00000247153.3	-	8	1200	c.959C>T	c.(958-960)tCg>tTg	p.S320L	CFP_ENST00000377005.2_Missense_Mutation_p.S320L|CFP_ENST00000396992.3_Missense_Mutation_p.S320L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	320	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CTCCCCCCACGAGTCCCACTC	0.617000													3	18					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8700978	8700978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8700978C>T	ENST00000329805.4	-	1	1689	c.1461G>A	c.(1459-1461)atG>atA	p.M487I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	487						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCCTCTCCATGCGGGGAG	0.612000													4	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286383	152286383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152286383C>T	ENST00000368799.1	-	3	1014	c.979G>A	c.(979-981)Gag>Aag	p.E327K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	327	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCCACGCAGAT	0.567000									Ichthyosis				23	147					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81536910	81536910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81536910C>T	ENST00000548058.1	+	5	1715	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	ACSS3_ENST00000261206.3_Missense_Mutation_p.R268C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	269						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCTCCCGGTCGTGACCTTGA	0.408000													4	31					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273265	162273265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:162273265C>T	ENST00000389554.3	+	1	661	c.344C>T	c.(343-345)tCt>tTt	p.S115F		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	115						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CAGCCACAGTCTGCGGCCACT	0.637000													18	174					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3661086	3661086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3661086C>T	ENST00000263087.4	-	9	1032	c.934G>A	c.(934-936)Gat>Aat	p.D312N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	312	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATGCCACCATCGGTGAGCACC	0.537000													12	174					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162535	49162535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49162535G>A	ENST00000418109.1	-	21	2952	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	LAMB2_ENST00000305544.4_Missense_Mutation_p.P930S|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	930	Laminin EGF-like 9.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGCCTTCAGGACAGGGACAG	0.597000													4	40					0	0	1	0	0
NOP9	161424	broad.mit.edu	37	14	24769388	24769388	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24769388C>T	ENST00000267425.3	+	1	321	c.228C>T	c.(226-228)ccC>ccT	p.P76P	NOP9_ENST00000396802.3_Silent_p.P76P	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		AAGAGGCTCCCGAGACTGGGG	0.612000													4	92					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216581	10216581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10216581C>T	ENST00000418404.3	-	29	4238	c.4075G>A	c.(4075-4077)Gcc>Acc	p.A1359T	MYH13_ENST00000252172.4_Missense_Mutation_p.A1359T|MYH13_ENST00000570743.1_Missense_Mutation_p.A1359T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1359					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCAGCTCGGCCTTGGCTTCC	0.627000													17	108					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647821	51647821	+	Missense_Mutation	SNP	C	C	T	rs144612094	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51647821C>T	ENST00000317643.6	+	2	661	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	198	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCCACCACCCGCTCCTCAGT	0.667000													11	77					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511582	73511582	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:73511582G>A	ENST00000394957.3	-	6	799	c.741C>T	c.(739-741)gcC>gcT	p.A247A	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	247						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGGTGGTGAGGCTTCAAAGC	0.602000													7	54					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142724187	142724187	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142724187G>A	ENST00000350513.2	-	1	95	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CTAGAAGGTGGAATTCAGTGG	0.428000													4	39					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330750	125330750	+	Silent	SNP	T	T	G	rs111916014		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125330750T>G	ENST00000304865.2	-	1	88	c.7A>C	c.(7-9)Aga>Cga	p.R3R		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGTTGATTCTTTCCATTGAC	0.433000													4	26					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932655	32932655	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32932655C>T	ENST00000383763.4	+	4	2022	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	653					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCAGTTCGACCGACCAG	0.632000													10	22					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854546	234854546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234854546C>T	ENST00000324695.4	+	7	786	c.746C>T	c.(745-747)cCa>cTa	p.P249L	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	249						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACAAGAGATCCACTGTATATC	0.438000													8	73					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752325	247752325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247752325G>A	ENST00000320065.1	+	1	664	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGTCTCCTCTGGCTACATTGC	0.502000													4	33					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33486951	33486951	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33486951G>A	ENST00000254260.3	-	11	1436	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	RHPN2_ENST00000400226.4_Silent_p.I316I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	467					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGGGCGTCGATCAGGTTCA	0.622000													10	54					0	0	1	0	0
GPR25	2848	broad.mit.edu	37	1	200843103	200843103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200843103C>T	ENST00000304244.2	+	1	1021	c.938C>T	c.(937-939)tCa>tTa	p.S313L		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	313						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CTGGACCGCTCATTCCGAGCC	0.706000													7	51					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9406786	9406786	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9406786C>T	ENST00000345094.3	+	2	368	c.34C>T	c.(34-36)Cta>Tta	p.L12L	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.L12L|THUMPD3_ENST00000452837.2_Silent_p.L12L	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	12							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TAACCAACTCCTAGATGTGAA	0.428000													5	71					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103299894	103299894	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103299894C>T	ENST00000233969.2	+	4	1321	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	393						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ACTGGGCCTTCGTCTGCTTCA	0.507000													16	21					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119061433	119061433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119061433C>T	ENST00000503566.2	-	5	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E156K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	156										lung(3)|stomach(1)	4						AAGATTTCCTCATACTTCGCC	0.607000													7	81					0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43403497	43403497	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43403497G>T	ENST00000244533.3	+	3	1847	c.1488G>T	c.(1486-1488)acG>acT	p.T496T	ABCC10_ENST00000372530.4_Silent_p.T539T	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	539	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTGTTCACGGCCCTGGCAC	0.562000													4	27					0.150653	0.151545	1	1	0
RNF169	254225	broad.mit.edu	37	11	74546826	74546826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:74546826C>T	ENST00000299563.4	+	6	1191	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	393							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TGTACTCCTCCCAAGAGACTC	0.502000													4	75					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3920960	3920960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3920960G>A	ENST00000381638.2	-	48	7830	c.7706C>T	c.(7705-7707)tCc>tTc	p.S2569F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2569							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTCTGTGCTGGAGATCAGCTT	0.587000													6	54					0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46851359	46851359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46851359C>T	ENST00000238892.3	+	5	431	c.299C>T	c.(298-300)tCt>tTt	p.S100F	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	100	PDZ3-binding.|Sufficient for interaction with DLG4.					cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAGCAAACATCTGTCTAGATG	0.328000													16	26					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134016237	134016237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134016237G>A	ENST00000338492.4	+	12	1533	c.1369G>A	c.(1369-1371)Ggg>Agg	p.G457R	DPYSL4_ENST00000368629.1_Intron|DPYSL4_ENST00000368627.1_Intron	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	457					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCTGGAGGACGGGAAGATGTT	0.617000													9	94					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31862716	31862716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31862716C>T	ENST00000396184.3	-	15	1757	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	PDE1C_ENST00000396193.1_Missense_Mutation_p.R578Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R518Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R518Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R518Q	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	518	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCATCTCTCCCGATTGATGTG	0.473000													7	16					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13858217	13858217	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:13858217G>T	ENST00000284951.5	-	11	1049	c.975C>A	c.(973-975)ttC>ttA	p.F325L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F325L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	325						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCTTTAAGAAGTAGTGTA	0.338000													5	30					3.59834e-05	3.64736e-05	1	1	0
EPB42	2038	broad.mit.edu	37	15	43501608	43501608	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43501608C>T	ENST00000300215.3	-	6	1243	c.786G>A	c.(784-786)caG>caA	p.Q262Q	EPB42_ENST00000441366.2_Silent_p.Q232Q|EPB42_ENST00000540029.1_Silent_p.Q154Q			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	232					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGCCTGGGTCTGCGGGGTGG	0.632000													4	64					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160252888	160252888	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160252888G>A	ENST00000368072.5	-	3	213	c.192C>T	c.(190-192)ttC>ttT	p.F64F	DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTGGGAAGCGAAGAGGGCAT	0.537000													5	99					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48037601	48037601	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48037601C>T	ENST00000295461.5	+	6	711	c.645C>T	c.(643-645)atC>atT	p.I215I	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	215						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGCTGTGATCATAACTGTGA	0.368000													5	86					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52557706	52557706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52557706G>A	ENST00000321725.6	+	66	7405	c.7329G>A	c.(7327-7329)tgG>tgA	p.W2443*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2443	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCATTGTGTGGGACATCATGG	0.632000													5	45					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124411260	124411260	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124411260C>T	ENST00000409039.3	+	68	11669	c.11644C>T	c.(11644-11646)Ctg>Ttg	p.L3882L	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3882	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTGTTTATCCTGAGTCCTGG	0.473000													4	39					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24633331	24633331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24633331C>T	ENST00000396864.3	+	6	924	c.637C>T	c.(637-639)Cct>Tct	p.P213S	IRF9_ENST00000557894.1_Missense_Mutation_p.P111S|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	213					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GTTTCTGCTTCCTCCAGAGCC	0.532000													9	82					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137733918	137733918	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137733918C>T	ENST00000314358.5	+	10	3083	c.2883C>T	c.(2881-2883)ccC>ccT	p.P961P	KDM3B_ENST00000394866.1_Silent_p.P617P|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	961					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTTAAGCCCCCAGCAAAGTG	0.478000													6	90					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106924055	106924055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:106924055G>A	ENST00000393603.2	-	13	1800	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	COG5_ENST00000347053.3_Missense_Mutation_p.S510F|COG5_ENST00000297135.3_Missense_Mutation_p.S510F	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	510					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTCATCAGAGGAAGGAGGATT	0.378000													6	41					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150416402	150416402	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150416402G>A	ENST00000389378.2	-	13	1932	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Silent_p.A448A|TNIP1_ENST00000522226.1_Silent_p.A448A|TNIP1_ENST00000521591.1_Silent_p.A448A|TNIP1_ENST00000315050.7_Silent_p.A448A|TNIP1_ENST00000520931.1_Silent_p.A395A|TNIP1_ENST00000523200.1_Silent_p.A448A|TNIP1_ENST00000523338.1_Silent_p.A448A|TNIP1_ENST00000524280.1_Silent_p.A448A	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	448					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTAGGAGGGCCCCTGCTC	0.577000													11	57					0	0	1	0	0
CLDN14	23562	broad.mit.edu	37	21	37833692	37833692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37833692C>T	ENST00000399137.1	-	3	1168	c.302G>A	c.(301-303)gGg>gAg	p.G101E	CLDN14_ENST00000342108.2_Missense_Mutation_p.G101E|AP000695.6_ENST00000429588.1_RNA|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.G101E|CLDN14_ENST00000399135.1_Missense_Mutation_p.G101E|CLDN14_ENST00000399139.1_Missense_Mutation_p.G101E	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	101					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						GCACTTCATCCCGATGACGGC	0.682000													10	63					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607261	17607261	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607261G>A	ENST00000375460.3	+	15	1771	c.1731G>A	c.(1729-1731)agG>agA	p.R577R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	577					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGACCGAGAGGAAAAAAGCAA	0.542000													7	93					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904536	88904536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:88904536C>T	ENST00000556553.1	+	12	2033	c.1474C>T	c.(1474-1476)Cat>Tat	p.H492Y	SPATA7_ENST00000356583.5_Missense_Mutation_p.H492Y|SPATA7_ENST00000393545.4_Missense_Mutation_p.H524Y|SPATA7_ENST00000045347.7_Intron			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	524					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GGATGAAAATCATCCAAGTAT	0.333000													6	19					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56510346	56510346	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56510346C>T	ENST00000302957.3	-	1	941	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTGAAGGCCTCTTTGATAT	0.408000													5	51					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219290451	219290451	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219290451C>T	ENST00000248444.5	+	4	352	c.264C>T	c.(262-264)ttC>ttT	p.F88F	VIL1_ENST00000440053.1_Silent_p.F88F|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	88	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGATGACTTCCTGAAGGGCC	0.612000													5	94					0	0	1	0	0
MS4A4A	51338	broad.mit.edu	37	11	60075592	60075592	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60075592C>T	ENST00000355131.3	+	8	827	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	MS4A4A_ENST00000532114.1_Silent_p.L168L|MS4A4A_ENST00000395016.3_Silent_p.L202L|MS4A4A_ENST00000337908.4_Silent_p.L221L	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	221						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGTGTTAATTCTGCCATCACA	0.438000													5	64					0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1492538	1492538	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1492538G>A	ENST00000329957.6	-	4	666	c.477C>T	c.(475-477)ttC>ttT	p.F159F	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	128						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						ATTTTGTGGGGAACACGTCCT	0.592000													6	13					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490433	30490433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30490433C>T	ENST00000356798.6	+	5	529	c.349C>T	c.(349-351)Cga>Tga	p.R117*	ITGAL_ENST00000454514.2_Nonsense_Mutation_p.R117*|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	117					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGGCTGTCTCGAACGTGTGA	0.517000													14	51					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757816	219757816	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219757816C>T	ENST00000258411.3	+	4	1710	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	359					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCGTGGGCCGCCTGTGCA	0.731000													11	30					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1577738	1577738	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1577738G>A	ENST00000572621.1	-	20	3562	c.3297C>T	c.(3295-3297)ttC>ttT	p.F1099F	PRPF8_ENST00000304992.6_Silent_p.F1099F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1099						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCCCTCACCTGAAAAAAATAT	0.478000													13	97					0	0	1	0	0
TRGV3	6976	broad.mit.edu	37	7	38398313	38398313	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38398313G>A	ENST00000390346.2	-	0	336																											AGGTACCAGTGGATGTAGAAG	0.502000													6	108					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74497267	74497267	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74497267G>A	ENST00000422840.2	-	20	2777	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	GLG1_ENST00000205061.5_Silent_p.I926I|GLG1_ENST00000447066.2_Silent_p.I915I	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	926						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGTTCTGGGTGATCTGGCGCT	0.468000													6	54					0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48789078	48789078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48789078G>A	ENST00000595607.1	+	6	691	c.197G>A	c.(196-198)aGa>aAa	p.R66K	ZNF114_ENST00000600687.1_Missense_Mutation_p.R66K|ZNF114_ENST00000597695.1_Missense_Mutation_p.R32K|ZNF114_ENST00000315849.1_Missense_Mutation_p.R66K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		CTTCCTAAAAGAACATTTCCT	0.443000													10	67					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11887244	11887244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11887244C>T	ENST00000346436.6	+	10	858	c.806C>T	c.(805-807)tCg>tTg	p.S269L	CLCN6_ENST00000376487.3_Missense_Mutation_p.S247L|CLCN6_ENST00000312413.6_Missense_Mutation_p.S269L|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.S269L	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	269					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGGGTTCGTCCTTCTGG	0.552000													4	63					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118360595	118360595	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118360595C>T	ENST00000528052.1	+	10	1016	c.945C>T	c.(943-945)ttC>ttT	p.F315F	PNLIPRP1_ENST00000534537.1_Silent_p.F315F|PNLIPRP1_ENST00000358834.4_Silent_p.F315F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	315					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACAAGTGCTTCCCGTGTCCAG	0.443000													7	60					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110020512	110020512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110020512G>A	ENST00000369872.3	+	5	745	c.529G>A	c.(529-531)Gat>Aat	p.D177N	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	177	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGCCTGACCGATGTCAAGGG	0.607000													65	616					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158590696	158590696	+	Silent	SNP	G	G	A	rs140317813	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:158590696G>A	ENST00000251527.5	-	3	653	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ESYT2_ENST00000497111.1_5'UTR	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	224						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTCCCCGCACGGCTGGTTCTA	0.453000													11	51					0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233246386	233246386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233246386G>A	ENST00000392027.2	+	11	1758	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	497						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CACCGCCTGCGACCTGGCGCC	0.746000													6	33					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	138003356	138003356	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138003356C>T	ENST00000469044.1	+	19	2080	c.1809C>T	c.(1807-1809)atC>atT	p.I603I	ARMC8_ENST00000491704.1_Silent_p.I561I|ARMC8_ENST00000485396.1_Silent_p.I530I|ARMC8_ENST00000461822.1_Silent_p.I536I|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|NME9_ENST00000317876.4_Intron|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000481646.1_Silent_p.I589I|ARMC8_ENST00000538260.1_Silent_p.I572I|ARMC8_ENST00000393058.3_Silent_p.I593I|NME9_ENST00000484930.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	603							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGAAAATCAAGTATTACA	0.383000													11	133					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015147	45015147	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45015147G>A	ENST00000454753.1	-	0	1957							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGGGCATCAGAGGTTTGGGT	0.507000													33	308					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404801	1404801	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1404801C>T	ENST00000381524.3	+	4	393	c.207C>T	c.(205-207)gtC>gtT	p.V69V	CSF2RA_ENST00000417535.2_Silent_p.V69V|CSF2RA_ENST00000381509.3_Silent_p.V69V|CSF2RA_ENST00000381500.1_Silent_p.V69V|CSF2RA_ENST00000355805.2_Silent_p.V69V|CSF2RA_ENST00000432318.2_Silent_p.V69V|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Silent_p.V69V|CSF2RA_ENST00000381529.3_Silent_p.V69V|CSF2RA_ENST00000361536.3_Silent_p.V69V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	69						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGAACAGAGTCGTGGAACCCA	0.502000													12	222					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67485678	67485678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67485678G>A	ENST00000522677.3	-	11	1944	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	MYBL1_ENST00000517885.1_Missense_Mutation_p.P170S|MYBL1_ENST00000524176.2_Missense_Mutation_p.P512S	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	512	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CCACAAATAGGGGTTGATGTA	0.343000													6	59					0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19746703	19746703	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19746703C>T	ENST00000320394.6	+	5	1104	c.405C>T	c.(403-405)ttC>ttT	p.F135F	IQCK_ENST00000564186.1_Silent_p.F135F|IQCK_ENST00000541926.1_Silent_p.F135F|IQCK_ENST00000433597.2_Silent_p.F47F	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	135										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TGGAAACTTTCATCTTTCCTG	0.418000													4	27					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30702528	30702528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30702528G>A	ENST00000256246.2	-	1	4080	c.4006C>T	c.(4006-4008)Cag>Tag	p.Q1336*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1336										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTGATAACTGAGGAATACTG	0.383000													5	45					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499966	59499966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59499966G>A	ENST00000307144.4	+	1	925	c.827G>A	c.(826-828)tGg>tAg	p.W276*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	276					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCTGAGCAATGGAAAAATGTC	0.423000													7	29					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32020538	32020538	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32020538C>T	ENST00000375244.3	-	26	9225	c.9024G>A	c.(9022-9024)ggG>ggA	p.G3008G	TNXB_ENST00000375247.2_Silent_p.G3006G			P22105	TENX_HUMAN	tenascin XB	3053	Fibronectin type-III 22.				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						GCTCCAGGCCCCCCACGGTGA	0.672000													14	326					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216420104	216420104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216420104G>A	ENST00000366943.2	-	13	3018	c.2632C>T	c.(2632-2634)Cgc>Tgc	p.R878C	USH2A_ENST00000366942.3_Missense_Mutation_p.R878C|USH2A_ENST00000307340.3_Missense_Mutation_p.R878C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	878	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGATTACAGCGAAGACCTGTT	0.448000										HNSCC(13;0.011)			14	46					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983977	2983977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2983977C>T	ENST00000396946.4	-	5	956	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	185					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCGCTCTTCCTTCATCTTG	0.562000			Mis		DLBCL								10	114					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11038785	11038785	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:11038785C>T	ENST00000470054.1	-	0	1418									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTGGTTTACCCATGCCAGTTT	0.408000													4	92					0	0	1	0	0
MIR493	574450	broad.mit.edu	37	14	101335450	101335450	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:101335450C>T	ENST00000385254.1	+	0	54					NR_030172.1																						tttgcacattcggtgaaggtc	0.597000													9	46					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17491704	17491704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17491704G>A	ENST00000541323.1	+	6	1366	c.921G>A	c.(919-921)tgG>tgA	p.W307*	PDGFRL_ENST00000523248.1_3'UTR|PDGFRL_ENST00000251630.6_Nonsense_Mutation_p.W307*|PDGFRL_ENST00000398074.3_Nonsense_Mutation_p.W307*	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	307	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AGTTCACCTGGATCTTCCCAG	0.542000													14	108					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	476448	476448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:476448C>T	ENST00000264938.3	-	13	1945	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.E637K	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	646	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCTGTTTCTCGTCCTCCGTG	0.612000													21	81					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21636346	21636346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21636346G>A	ENST00000444129.2	-	6	1132	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	RECQL_ENST00000421138.2_Missense_Mutation_p.H222Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	222	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTACAGCAGTGAACTTCATCC	0.393000								Other identified genes with known or suspected DNA repair function					4	23					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93856010	93856010	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:93856010G>A	ENST00000513200.3	-	4	985	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C	KIAA0825_ENST00000329378.7_Missense_Mutation_p.R305C|KIAA0825_ENST00000312498.7_Missense_Mutation_p.R305C|KIAA0825_ENST00000427991.2_Missense_Mutation_p.R305C	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	305								p.R305C(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTAACCACACGAACAGCATTT	0.358000													5	19					0	0	1	0	0
RPL27A	6157	broad.mit.edu	37	11	8706416	8706416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:8706416C>T	ENST00000314138.6	+	4	698	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	RPL27A_ENST00000524496.1_Missense_Mutation_p.P42S|RPL27A_ENST00000531978.1_Missense_Mutation_p.P99S|RPL27A_ENST00000530022.1_Missense_Mutation_p.P42S|RPL27A_ENST00000530913.1_Missense_Mutation_p.P42S|RPL27A_ENST00000532359.1_Missense_Mutation_p.P64S|RPL27A_ENST00000526562.1_Missense_Mutation_p.P42S	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	99					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGGCTGCTCCCATCATTGA	0.433000													22	96					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11282031	11282031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11282031C>T	ENST00000284486.4	-	3	1034	c.496G>A	c.(496-498)Gat>Aat	p.D166N	C8orf12_ENST00000529305.1_Intron|FAM167A_ENST00000534308.1_Missense_Mutation_p.D166N|FAM167A_ENST00000528897.1_Missense_Mutation_p.D166N|FAM167A_ENST00000531564.1_5'UTR|C8orf12_ENST00000284481.3_Intron	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	166										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TAGGTGGCATCGTTGAGCATC	0.592000													9	73					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3224155	3224155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3224155C>T	ENST00000355072.5	+	54	7556	c.7411C>T	c.(7411-7413)Ctc>Ttc	p.L2471F		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2471					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGGGCCACCCTCCTTGGTGT	0.532000													5	66					0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007585	32007585	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32007585C>T	ENST00000418967.2	+	6	869	c.711C>T	c.(709-711)atC>atT	p.I237I	CYP21A2_ENST00000435122.2_Silent_p.I207I	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	236			V -> E (in AH3; salt wasting form; dbSNP:rs12530380).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GGGATCACATCGTGGAGATGC	0.602000													26	244					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43714762	43714762	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43714762C>T	ENST00000398437.1	+	15	2386	c.2238C>T	c.(2236-2238)tcC>tcT	p.S746S	ABCG1_ENST00000347800.2_Silent_p.S585S|ABCG1_ENST00000340588.4_Silent_p.S708S|ABCG1_ENST00000398449.3_Silent_p.S588S|ABCG1_ENST00000398457.2_Silent_p.S590S|ABCG1_ENST00000343687.3_Silent_p.S599S|ABCG1_ENST00000361802.2_Silent_p.S600S|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	600					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCTACATCTCCTATGTCAGGT	0.617000													6	78					0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138457276	138457276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138457276G>A	ENST00000479141.1	+	5	486	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PAEP_ENST00000371766.2_Missense_Mutation_p.D148N|PAEP_ENST00000277508.5_Missense_Mutation_p.D148N	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	148					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGTGGAGGACGATGAGATCAT	0.602000													5	35					0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13666501	13666501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:13666501G>A	ENST00000322247.3	-	5	1184	c.797C>T	c.(796-798)tCc>tTc	p.S266F	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.S266F	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	266						integral to membrane											TTTCTTAAAGGAAACTTTTTC	0.358000													5	25					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111440430	111440430	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111440430G>A	ENST00000271324.5	+	7	616		c.e7-1		CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Splice_Site	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule						signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATGTCTTCTAGGGTTGCTATG	0.368000													7	42					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:129558863C>T	ENST00000422113.2	-	9	3183	c.2857G>A	c.(2857-2859)Gag>Aag	p.E953K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E491K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	953						integral to membrane		p.E953*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458000													6	100					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785236	1785236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1785236C>T	ENST00000539485.1	-	27	3717	c.3484G>A	c.(3484-3486)Ggt>Agt	p.G1162S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.G1152S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1115S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1152					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTAGAAACCAAGGCTGAGG	0.592000													8	9					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188055	140188055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140188055G>A	ENST00000530339.1	+	1	1283	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R428Q|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R428Q|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGACCGCGCGAGACGGGGGC	0.617000													21	107					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51792133	51792133	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51792133A>T	ENST00000251076.5	-	18	3575	c.3288T>A	c.(3286-3288)gtT>gtA	p.V1096V	DMXL2_ENST00000543779.2_Silent_p.V1096V|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1096						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCTTTAGAAACAAAACCAT	0.393000													4	11					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975918	20975918	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20975918C>T	ENST00000261383.3	-	53	9287	c.9288G>A	c.(9286-9288)gaG>gaA	p.E3096E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3096	AAA 5 (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)		TATTCGCCTTCTCCATGTTCT	0.468000													7	101					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31901481	31901481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31901481G>A	ENST00000469372.1	+	2	253	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	CFB_ENST00000456570.1_Silent_p.S117S|C2_ENST00000418949.2_Silent_p.S179S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.S179S|C2_ENST00000452323.2_Silent_p.S56S|CFB_ENST00000556679.1_Silent_p.S117S|C2_ENST00000442278.2_Silent_p.S47S					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GCTGCTCCTCGAATCTTGTGC	0.652000													33	263					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89015796	89015796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:89015796C>T	ENST00000237612.3	-	15	2298	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	ABCG2_ENST00000515655.1_Missense_Mutation_p.M581I	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	585	ABC transmembrane type-2.				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)	CCCAAAAATTCATTATGCTGC	0.388000													12	21					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15709696	15709696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15709696G>A	ENST00000396368.3	-	16	3450	c.3244C>T	c.(3244-3246)Ccc>Tcc	p.P1082S	KIAA0430_ENST00000548025.1_Missense_Mutation_p.P1079S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P1082S|KIAA0430_ENST00000540441.2_Missense_Mutation_p.P917S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P684S|KIAA0430_ENST00000602337.1_Missense_Mutation_p.P1079S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1081						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAGTGTTGGGAGGCGGGGGC	0.463000													8	76					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42474955	42474955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42474955G>A	ENST00000434000.1	-	9	4538	c.4256C>T	c.(4255-4257)cCc>cTc	p.P1419L	GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1497L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1497						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGGCTGGGGGGATGTTGCAG	0.587000													8	34					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63720063	63720063	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:63720063G>A	ENST00000409562.3	-	2	333	c.87C>T	c.(85-87)tcC>tcT	p.S29S	WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000272321.7_Silent_p.S29S			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	29					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GATGGCAGAAGGAATCTCTAT	0.338000													18	32					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531700	92531700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92531700C>T	ENST00000298047.6	+	9	5538	c.5521C>T	c.(5521-5523)Cat>Tat	p.H1841Y	FAT3_ENST00000409404.2_Missense_Mutation_p.H1841Y|FAT3_ENST00000525166.1_Missense_Mutation_p.H1691Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1841	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAACCTGGACCATGAAACCAT	0.468000										TCGA Ovarian(4;0.039)			5	101					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647820	51647820	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51647820C>T	ENST00000317643.6	+	2	660	c.591C>T	c.(589-591)acC>acT	p.T197T	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	197	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.T197T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CCTCCACCACCCGCTCCTCAG	0.662000													11	78					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994575	140994575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994575C>T	ENST00000285879.4	+	4	1671	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	462							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGAGA	0.483000										HNSCC(15;0.026)			8	60					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175596	51175596	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51175596G>A	ENST00000440970.1	-	2	677	c.246C>T	c.(244-246)ctC>ctT	p.L82L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.L179L|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	179					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCAGGTCCCCGAGTTGAGGTA	0.617000													11	60					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641393	156641393	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156641393G>A	ENST00000368223.3	-	4	2719	c.2587C>T	c.(2587-2589)Cta>Tta	p.L863L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	863	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTTTTCTAGAGGATTCATT	0.458000													17	98					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9724895	9724895	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9724895C>T	ENST00000296003.4	+	10	1053	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	MTMR14_ENST00000353332.5_Silent_p.L311L|MTMR14_ENST00000351233.5_Silent_p.L311L|MTMR14_ENST00000420925.1_Silent_p.L65L	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	311						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACAAAACTACCTGAAGCTGCT	0.428000													4	54					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64701933	64701933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64701933C>T	ENST00000261884.3	+	7	1009	c.949C>T	c.(949-951)Cga>Tga	p.R317*	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	317					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						GAGAGAACTTCGACACGCCTC	0.453000													8	75					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77895944	77895944	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77895944G>A	ENST00000419564.2	-	4	935	c.471C>T	c.(469-471)ttC>ttT	p.F157F	PEX2_ENST00000522527.1_Silent_p.F157F|PEX2_ENST00000357039.4_Silent_p.F157F|PEX2_ENST00000520103.1_Silent_p.F157F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	157					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CCCTCTGAAGGAAAATCAAAA	0.363000													5	48					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222924	45222924	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45222924C>T	ENST00000242249.4	+	3	398	c.360C>T	c.(358-360)atC>atT	p.I120I	RAMP3_ENST00000481345.1_Silent_p.I120I|RAMP3_ENST00000496212.1_Silent_p.I120I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632000													42	146					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417599	46417599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46417599C>T	ENST00000341294.2	-	1	437	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	118					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTGCTGGCCACCGTTAAGCGG	0.672000													4	34					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6145998	6145998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6145998G>A	ENST00000264870.3	-	15	2318	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	685					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GAGTTGGGCCGGATTTCACTG	0.517000													4	20					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42065035	42065035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:42065035C>T	ENST00000264451.6	+	11	1109	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	310					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATATTTCTTCGCTAATTAGT	0.348000													8	70					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661444	77661444	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:77661444G>A	ENST00000296043.6	+	5	3071	c.2118G>A	c.(2116-2118)agG>agA	p.R706R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	706					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)			ACCCTGGGAGGAAAGCCGCTC	0.662000													6	129					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94038411	94038411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94038411G>A	ENST00000553484.1	+	15	2081	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	UNC79_ENST00000555664.1_Missense_Mutation_p.E643K|UNC79_ENST00000256339.4_Missense_Mutation_p.E466K|UNC79_ENST00000393151.2_Missense_Mutation_p.E643K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	643						integral to membrane		p.E466K(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAGTTAAAAGAATTCAGGGA	0.408000													5	16					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15265034	15265034	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15265034C>T	ENST00000253693.2	+	6	944	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	231					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GAATGTTGACCTGAGAGAACG	0.318000													4	45					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529212	6529212	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6529212C>A	ENST00000377748.1	-	20	2867	c.2370G>T	c.(2368-2370)gaG>gaT	p.E790D	PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E750D|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E790D|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E782D|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E713D|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E769D|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E713D|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E713D|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E713D|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E713D|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E713D|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E792D	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	769					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcttcctcctcctgct	0.637000													17	121					6.94344e-10	7.0621e-10	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129782110	129782110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129782110G>A	ENST00000358825.5	-	19	3095	c.2864C>T	c.(2863-2865)cCt>cTt	p.P955L	PRDM10_ENST00000304538.6_Intron|PRDM10_ENST00000423662.2_Missense_Mutation_p.P869L|PRDM10_ENST00000528746.1_Missense_Mutation_p.P925L|PRDM10_ENST00000526082.1_Missense_Mutation_p.P869L|PRDM10_ENST00000360871.3_Missense_Mutation_p.P951L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	955	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGACTGGTGAGGGGAAGTGGC	0.512000													4	83					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135819	156135819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156135819G>A	ENST00000329476.3	+	2	1217	c.728G>A	c.(727-729)tGg>tAg	p.W243*	NPY2R_ENST00000506608.1_Nonsense_Mutation_p.W243*	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	243					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				ACTCGCATTTGGAGTAAATTG	0.443000													4	45					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2439451	2439451	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2439451C>T	ENST00000452833.1	-	6	866	c.858G>A	c.(856-858)gaG>gaA	p.E286E	TRPM5_ENST00000528453.1_Silent_p.E284E|TRPM5_ENST00000533060.1_Silent_p.E284E|TRPM5_ENST00000155858.6_Silent_p.E284E			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	284						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	p.V277_W293del(1)		breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGGAACTTCTCCTTAAACT	0.632000													27	369					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939120	6939120	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6939120G>A	ENST00000251761.8	+	0	629				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						AAGTACAGACGAATGTCGGGA	0.592000													5	74					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228060	3228060	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3228060C>T	ENST00000217939.6	-	7	8338	c.8184G>A	c.(8182-8184)gtG>gtA	p.V2728V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2728						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATAGGCGATCACAATCACGG	0.607000													4	20					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233345515	233345515	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233345515C>T	ENST00000304546.1	-	16	2274	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q	ECEL1_ENST00000409941.1_Silent_p.Q686Q	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	688					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACCCACTTCTGATAGGCCT	0.622000													5	16					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73462009	73462009	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73462009C>T	ENST00000252034.7	+	13	1047	c.648C>T	c.(646-648)ggC>ggT	p.G216G	ELN_ENST00000380562.4_Silent_p.G216G|ELN_ENST00000445912.1_Silent_p.G216G|ELN_ENST00000380584.4_Intron|ELN_ENST00000414324.1_Silent_p.G211G|ELN_ENST00000357036.5_Silent_p.G221G|ELN_ENST00000358929.4_Silent_p.G216G|ELN_ENST00000458204.1_Silent_p.G206G|ELN_ENST00000320399.6_Silent_p.G216G|ELN_ENST00000380576.5_Silent_p.G216G|ELN_ENST00000429192.1_Silent_p.G221G|ELN_ENST00000380575.4_Silent_p.G206G|ELN_ENST00000380553.4_Intron|ELN_ENST00000320492.7_Intron	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	216					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CTCCAGGTGGCTATGGACTGC	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						5	92					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463976	150463976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150463976C>T	ENST00000369064.3	+	5	653	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	TARS2_ENST00000438568.2_Missense_Mutation_p.P165L|TARS2_ENST00000369054.2_Nonsense_Mutation_p.Q207*|TARS2_ENST00000606933.1_Nonsense_Mutation_p.Q207*	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	207					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)	TCAGCTTCGCCAGTTGTTCAA	0.537000													15	91					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128753985	128753985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128753985G>A	ENST00000357702.5	-	11	1503	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	SAP130_ENST00000259234.6_Missense_Mutation_p.P432S|SAP130_ENST00000259235.3_Missense_Mutation_p.P458S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	458					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCGGAGATGGGAATCAGGCTA	0.562000													8	45					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612261	158612261	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158612261G>A	ENST00000368148.3	-	33	4857	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I	SPTA1_ENST00000368147.3_Silent_p.I1559I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1559					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	p.I1559M(1)		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)					TCCCCAGGTTGATGACGCCAT	0.463000													3	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238432	126238432	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:126238432T>C	ENST00000394329.3	+	1	879	c.866T>C	c.(865-867)cTg>cCg	p.L289P		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	289	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGCTATCGCCTGCAGGACGAG	0.677000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	39					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228886515C>T	ENST00000392056.3	-	6	655	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_ENST00000344657.5_Silent_p.T203T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGAACAGTTCGTGTCATCCT	0.463000													5	41					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2722564	2722564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:2722564C>T	ENST00000320876.6	+	20	2844	c.2506C>T	c.(2506-2508)Cgt>Tgt	p.R836C	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R836C	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	836					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTCCTTTTCGTGTTGGAGT	0.373000													4	46					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53224066	53224066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53224066C>T	ENST00000330553.5	-	3	743	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	237	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTTGATTTCATCCTCGTAC	0.572000													5	63					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813791	42813791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42813791C>T	ENST00000499536.2	+	1	866	c.55C>T	c.(55-57)Cgt>Tgt	p.R19C	PRR19_ENST00000341747.3_Missense_Mutation_p.R19C|PRR19_ENST00000598490.1_Missense_Mutation_p.R19C			A6NJB7	PRR19_HUMAN	proline rich 19	19										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GAAACCTGGTCGTGTCCGTCG	0.582000													14	84					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1097275	1097275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1097275G>A	ENST00000441003.2	+	35	6718	c.6691G>A	c.(6691-6693)Gag>Aag	p.E2231K	MUC2_ENST00000361558.6_Missense_Mutation_p.E369K	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4593						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACATCCCCGAGCTGGGTGT	0.607000													7	61					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986682	20986682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20986682G>A	ENST00000261383.3	-	51	8131	c.8132C>T	c.(8131-8133)tCc>tTc	p.S2711F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2711	Stalk (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)		AGTTTCCTCGGAGGTGAGGAT	0.473000													17	129					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81647091	81647091	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81647091C>T	ENST00000548058.1	+	14	2635	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	ACSS3_ENST00000261206.3_Silent_p.I574I|ACSS3_ENST00000548324.1_Silent_p.I257I			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	575						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TACAGTCAATCCTTTCCCATG	0.358000													4	77					0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73843626	73843626	+	Silent	SNP	G	G	A	rs149635149	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73843626G>A	ENST00000591399.1	-	7	1021	c.597C>T	c.(595-597)ccC>ccT	p.P199P	WBP2_ENST00000344296.4_Silent_p.P177P|WBP2_ENST00000254806.3_Silent_p.P199P|WBP2_ENST00000585462.1_Silent_p.P177P|WBP2_ENST00000433525.2_Silent_p.P154P|WBP2_ENST00000590221.1_Silent_p.P195P			Q969T9	WBP2_HUMAN	WW domain binding protein 2	199	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCAGGGTAGGGCGGTGGTG	0.657000													4	42					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41414861	41414861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:41414861C>T	ENST00000318588.9	-	20	1879	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Missense_Mutation_p.G589R|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378166.4_Missense_Mutation_p.G612R|CASK_ENST00000421587.2_Missense_Mutation_p.G583R|CASK_ENST00000378163.1_Missense_Mutation_p.G612R			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	612					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACCTGTCGTCCTTTTGGTTGG	0.358000													4	4					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288223	45288223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45288223G>A	ENST00000372192.3	-	22	3606	c.3476C>T	c.(3475-3477)tCc>tTc	p.S1159F	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1159					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACGGTCATGGAGGTAGTCAC	0.647000									Basal Cell Nevus syndrome				20	93					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139476	142139476	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142139476G>A	ENST00000390374.3	-	0	193																											CCAATAAAGGGATACATGACC	0.517000													12	35					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957862	74957862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:74957862C>T	ENST00000370891.2	+	25	2582	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P856S|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P755S	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CCGGGGAGGACCTGGCCGGAG	0.502000													18	51					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39978708	39978708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39978708C>T	ENST00000314349.4	+	9	1146	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	TIMM50_ENST00000607714.1_Missense_Mutation_p.S235L|TIMM50_ENST00000544017.1_Missense_Mutation_p.S122L|TIMM50_ENST00000599794.1_Missense_Mutation_p.S39L	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	235					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	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)			CAGGATATTTCATGTCTGAAT	0.522000													17	135					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681590	44681590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44681590C>T	ENST00000381176.4	-	4	449	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	106						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CACGAAAAATCCATAGATCCA	0.527000													14	144					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32853391	32853391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32853391G>A	ENST00000317907.4	+	1	263	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	11							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTCTGAGGGGATTCCCCACT	0.607000													12	33					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079070	67079070	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:67079070C>T	ENST00000284425.2	-	36	4734	c.4560G>A	c.(4558-4560)gtG>gtA	p.V1520V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1520					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)					GGACCAAAGTCACTTGAGACG	0.448000													8	163					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719043	50719043	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50719043G>A	ENST00000449103.1	-	25	4190	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_ENST00000359337.4_Silent_p.F1350F			O15031	PLXB2_HUMAN	plexin B2	1350					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACGCGAAGTAGACCT	0.642000													8	62					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757680	17757680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17757680G>A	ENST00000379472.3	+	1	161	c.131G>A	c.(130-132)aGc>aAc	p.S44N	KCNC1_ENST00000265969.6_Missense_Mutation_p.S44N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	44						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GACGCCCACAGCCACTTCGAC	0.687000													4	28					0	0	1	0	0
CCR4	1233	broad.mit.edu	37	3	32995868	32995868	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32995868C>T	ENST00000330953.5	+	2	1122	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	318					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TCCTACAGCTCTTCAAAACCT	0.493000													5	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075336	9075336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9075336G>A	ENST00000397910.4	-	3	12313	c.12110C>T	c.(12109-12111)tCc>tTc	p.S4037F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4039	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAACCTGGGGAAGAGATAAT	0.483000													7	43					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50780109	50780109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:50780109C>T	ENST00000404971.1	-	10	2834	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.G451R|NRXN1_ENST00000406859.3_Missense_Mutation_p.G459R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G451R|NRXN1_ENST00000401669.2_Missense_Mutation_p.G459R|NRXN1_ENST00000406316.2_Missense_Mutation_p.G459R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	459	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAGGATCTCCTTGCTTGGCA	0.408000													4	100					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36553081	36553081	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36553081C>T	ENST00000207457.3	+	8	1024	c.897C>T	c.(895-897)caC>caT	p.H299H		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	299					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACATCCGGCACCTGGAGGAGG	0.622000													6	29					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89192305	89192305	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:89192305G>A	ENST00000315194.4	-	4	967	c.578C>T	c.(577-579)cCc>cTc	p.P193L	PPM1K_ENST00000513546.2_Intron|PPM1K_ENST00000295908.6_Intron|PPM1K_ENST00000506423.1_Missense_Mutation_p.P193L			Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	0	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AGTGTCCACGGGCTCCAGGTC	0.502000													6	11					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165957	118165957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118165957C>T	ENST00000369448.3	+	2	714	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	156										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AGCCTGATCTCCCTCTCCAAC	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			5	75					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67066400	67066400	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:67066400A>G	ENST00000315962.4	+	9	1728	c.1355A>G	c.(1354-1356)aAa>aGa	p.K452R	TRIM55_ENST00000276573.7_Missense_Mutation_p.K452R|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	452						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAAACCCGGAAAGCCACCACC	0.557000													3	23					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47630437	47630437	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:47630437T>A	ENST00000455779.1	+	14	1522	c.1337T>A	c.(1336-1338)cTc>cAc	p.L446H	PHKB_ENST00000566044.1_Missense_Mutation_p.L446H|PHKB_ENST00000323584.5_Missense_Mutation_p.L453H|PHKB_ENST00000299167.8_Missense_Mutation_p.L453H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	453					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATCGCAAAACTCCTGGGTAAG	0.378000													6	67					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306915	140306915	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140306915G>A	ENST00000253807.2	+	1	438	c.438G>A	c.(436-438)ccG>ccA	p.P146P	PCDHAC1_ENST00000409700.3_Silent_p.P146P|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTCTCCCGAATGCCCAAG	0.592000													7	62					0	0	1	0	0
KLRG1	10219	broad.mit.edu	37	12	9147804	9147804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9147804G>A	ENST00000266551.4	+	3	292	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	KLRG1_ENST00000538029.1_Intron|KLRG1_ENST00000356986.3_Missense_Mutation_p.E93K|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	93	C-type lectin.				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	p.E93Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTCAGTGGAGGAAAAGGACTG	0.448000													4	9					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231174	42231174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42231174C>T	ENST00000221992.6	+	9	2161	c.2047C>T	c.(2047-2049)Ctc>Ttc	p.L683F	CEACAM5_ENST00000398599.4_Missense_Mutation_p.L682F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.L683F|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	683						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTCTCCTGGTCTCTCAGCTGG	0.498000													24	399					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21728264	21728264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21728264G>A	ENST00000388958.3	+	14	1526	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	OTOA_ENST00000388957.3_Missense_Mutation_p.E185K|OTOA_ENST00000286149.4_Missense_Mutation_p.E523K|OTOA_ENST00000388956.4_Missense_Mutation_p.E430K	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	523					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGGCATCGTGGAGATACAAGG	0.468000													11	85					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880303	101880303	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101880303G>A	ENST00000551346.1	+	6	660	c.501G>A	c.(499-501)caG>caA	p.Q167Q	SPIC_ENST00000299272.5_Silent_p.Q167Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						TGACTTACCAGAAAATGGCCA	0.428000													6	40					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968916	62968916	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62968916G>A	ENST00000430983.1	-	0	1419					NR_026903.1																						GACTCTAAAGGAACACCTTGT	0.353000													3	19					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059694	152059694	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152059694T>G	ENST00000368806.1	-	3	528	c.464A>C	c.(463-465)aAc>aCc	p.N155T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	155							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTCCACTCTGTTATTTCCAAC	0.453000													5	36					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688486	26688486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26688486C>T	ENST00000529632.2	+	2	405	c.209C>T	c.(208-210)cCc>cTc	p.P70L	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P70L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P70L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P70L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P70L|SEZ6L_ENST00000402979.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTAACAGCGCCCCCCAGTTCC	0.632000													7	27					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247704	164247704	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164247704C>T	ENST00000296533.2	-	2	534	c.3G>A	c.(1-3)atG>atA	p.M1I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	1					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGTTGAATTCATTTTGATTG	0.343000													5	19					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110592132	110592132	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110592132C>T	ENST00000399066.3	-	4	1348	c.621G>A	c.(619-621)agG>agA	p.R207R	SYBU_ENST00000433638.1_Silent_p.R210R|SYBU_ENST00000533065.1_Silent_p.R91R|SYBU_ENST00000533895.1_Silent_p.R209R|SYBU_ENST00000532779.1_Silent_p.R142R|SYBU_ENST00000528647.1_Silent_p.R209R|SYBU_ENST00000419099.1_Silent_p.R209R|SYBU_ENST00000276646.9_Silent_p.R210R|SYBU_ENST00000528331.1_Silent_p.R91R|SYBU_ENST00000533171.1_Silent_p.R210R|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000422135.1_Silent_p.R210R|SYBU_ENST00000408889.3_Silent_p.R91R|SYBU_ENST00000408908.2_Silent_p.R210R|SYBU_ENST00000424158.2_Silent_p.R215R|SYBU_ENST00000446070.2_Silent_p.R209R|SYBU_ENST00000529175.1_Silent_p.R4R|SYBU_ENST00000440310.1_Silent_p.R210R|SYBU_ENST00000529690.1_Silent_p.R80R	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	210	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGCTGATTCCTGCACAGCA	0.557000													8	111					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50845250	50845250	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50845250C>T	ENST00000359139.3	+	4	754	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PPP6R2_ENST00000395744.3_Silent_p.L120L|PPP6R2_ENST00000395741.3_Silent_p.L120L|PPP6R2_ENST00000216061.5_Silent_p.L120L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	120						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L120L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ATCCTCTGCTCGCCAGTTTTT	0.557000													27	360					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52883818	52883818	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52883818G>A	ENST00000355083.5	-	4	562	c.417C>T	c.(415-417)ttC>ttT	p.F139F	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.F139F	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		CATATTCGCCGAAGCGCAGGG	0.627000													5	49					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799262	20799262	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:20799262C>T	ENST00000327925.5	-	1	191	c.72G>A	c.(70-72)agG>agA	p.R24R	RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	24										large_intestine(3)|lung(3)|skin(1)	7						TAGGGGTCTTCCTCGTGGCGT	0.637000											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	32					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793550	100793550	+	Missense_Mutation	SNP	C	C	T	rs117307527	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100793550C>T	ENST00000361529.3	+	4	248	c.170C>T	c.(169-171)tCg>tTg	p.S57L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	57					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.S57L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CGGGGCCTCTCGCTGCCCGTG	0.672000													6	122					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31896664	31896664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31896664G>A	ENST00000477310.1	+	3	441	c.412G>A	c.(412-414)Gat>Aat	p.D138N	CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.D138N|C2_ENST00000299367.5_Missense_Mutation_p.D138N|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron			P00751	CFAB_HUMAN	complement factor B	152	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CGGCATGTGGGATGGAGAAAC	0.607000													32	239					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802413	148802413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148802413G>A	ENST00000378061.2	-	4	682	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	184					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCCTGTGGGAATTTCTAAG	0.478000													7	38					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431893	117431893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117431893G>A	ENST00000160373.3	-	4	1448	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	453	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCATTGCCCTGAAATCTAAAT	0.478000													15	225					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100266210C>T	ENST00000510055.1	-	0	550				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000													4	21					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914318	117914318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117914318C>T	ENST00000425217.1	-	17	2500	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	KSR2_ENST00000339824.5_Missense_Mutation_p.E845K|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	845	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATCCTCCTCTGTGTCGGGG	0.612000													3	7					0	0	1	0	0
GSTZ1	2954	broad.mit.edu	37	14	77795495	77795495	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:77795495G>A	ENST00000393734.1	+	7	744	c.207G>A	c.(205-207)gaG>gaA	p.E69E	GSTZ1_ENST00000557639.1_Silent_p.E69E|GSTZ1_ENST00000216465.5_Silent_p.E124E|GSTZ1_ENST00000557053.1_Silent_p.E27E|GSTZ1_ENST00000361389.4_Silent_p.E69E|GSTZ1_ENST00000553586.1_Silent_p.E125E|GSTZ1_ENST00000556627.1_Silent_p.E97E|GSTZ1_ENST00000554279.1_Silent_p.E110E|GSTZ1_ENST00000349555.3_Silent_p.E82E	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	124	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AAGTGGGAGAGGAGATGCAGC	0.577000													5	62					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559468	20559468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20559468C>T	ENST00000329697.6	-	8	1182	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	ACSM2B_ENST00000565322.1_Silent_p.G259G|ACSM2B_ENST00000565232.1_Silent_p.G338G|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G338G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	338					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGGGACTCCCCTCCAGCGA	0.532000													14	62					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78177434	78177434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78177434G>A	ENST00000370793.1	-	22	2843	c.2497C>T	c.(2497-2499)Cgg>Tgg	p.R833W	USP33_ENST00000370794.3_Missense_Mutation_p.R802W|USP33_ENST00000370792.3_Missense_Mutation_p.R825W|USP33_ENST00000357428.1_Missense_Mutation_p.R833W	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	833	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTTTTACCCGAATAAAAATT	0.318000													6	21					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894840	219894840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219894840G>A	ENST00000341552.5	-	10	1335	c.1252C>T	c.(1252-1254)Ccg>Tcg	p.P418S	CCDC108_ENST00000410037.1_Missense_Mutation_p.P353S|CCDC108_ENST00000409865.3_Missense_Mutation_p.P407S|CCDC108_ENST00000453220.1_Missense_Mutation_p.P418S|CCDC108_ENST00000441968.1_Missense_Mutation_p.P418S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	418						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)		TTCTCTCCCGGAAGCACGATG	0.562000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	64					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2693715	2693715	+	Silent	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2693715T>A	ENST00000399655.1	+	16	2536	c.2271T>A	c.(2269-2271)gcT>gcA	p.A757A	CACNA1C_ENST00000399644.1_Silent_p.A757A|CACNA1C_ENST00000399597.1_Silent_p.A757A|CACNA1C_ENST00000399595.1_Silent_p.A757A|CACNA1C_ENST00000406454.3_Silent_p.A757A|CACNA1C_ENST00000335762.5_Silent_p.A782A|CACNA1C_ENST00000344100.3_Silent_p.A757A|CACNA1C_ENST00000327702.7_Silent_p.A757A|CACNA1C_ENST00000399634.1_Silent_p.A757A|CACNA1C_ENST00000399621.1_Silent_p.A757A|CACNA1C_ENST00000399649.1_Silent_p.A757A|CACNA1C_ENST00000399591.1_Silent_p.A757A|CACNA1C_ENST00000402845.3_Silent_p.A757A|CACNA1C_ENST00000347598.4_Silent_p.A757A|CACNA1C_ENST00000399603.1_Silent_p.A757A|CACNA1C_ENST00000399617.1_Silent_p.A757A|CACNA1C_ENST00000399601.1_Silent_p.A757A|CACNA1C_ENST00000399637.1_Silent_p.A757A|CACNA1C_ENST00000399606.1_Silent_p.A757A|CACNA1C_ENST00000399638.1_Silent_p.A757A|CACNA1C_ENST00000480911.1_Silent_p.A757A|CACNA1C_ENST00000399641.1_Silent_p.A757A|CACNA1C_ENST00000399629.1_Silent_p.A757A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	757					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACAACCTGGCTGATGCTGAGA	0.512000													4	47					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168112875	168112875	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168112875G>A	ENST00000519560.1	-	31	3791	c.3372C>T	c.(3370-3372)gaC>gaT	p.D1124D	SLIT3_ENST00000332966.8_Silent_p.D1131D|SLIT3_ENST00000404867.3_Silent_p.D1124D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1124	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCGTACTGGTCGCATGGGC	0.642000													4	27					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817099	43817099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43817099G>A	ENST00000382031.1	+	5	4173	c.4142G>A	c.(4141-4143)cGa>cAa	p.R1381Q	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1143Q|MAP1A_ENST00000300231.5_Missense_Mutation_p.R1143Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1143						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TATCCTGACCGAAGCCTCTCT	0.572000													5	55					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495302	205495302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205495302G>A	ENST00000360066.2	+	6	867	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.R219Q|CDK18_ENST00000429964.2_Missense_Mutation_p.R189Q	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	187	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACTGCCATCCGAGAGGGTACA	0.627000													5	22					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497722	28497722	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28497722G>A	ENST00000569430.1	-	10	1442	c.623C>T	c.(622-624)tCc>tTc	p.S208F	CLN3_ENST00000360019.2_Missense_Mutation_p.S208F|CLN3_ENST00000333496.9_Missense_Mutation_p.S184F|CLN3_ENST00000535392.1_Missense_Mutation_p.S130F|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000359984.7_Missense_Mutation_p.S208F|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.S208F|CLN3_ENST00000395653.4_Missense_Mutation_p.S108F|CLN3_ENST00000354630.5_Missense_Mutation_p.S208F|CLN3_ENST00000567963.1_Missense_Mutation_p.S208F|CLN3_ENST00000357857.9_Missense_Mutation_p.S154F|CLN3_ENST00000568224.1_Missense_Mutation_p.S130F|CLN3_ENST00000355477.5_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	208					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTGCTGAGGGGAGAGGCCGGC	0.682000													8	48					0	0	1	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879800	30879800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30879800C>T	ENST00000259895.4	+	10	1058	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	GTF2H4_ENST00000539324.1_3'UTR|GTF2H4_ENST00000376316.2_Missense_Mutation_p.R279W	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	279					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GAGGAAATCTCGGCGTTACTA	0.502000								Nucleotide excision repair (NER)					5	58					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17218677	17218677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17218677C>T	ENST00000180173.5	-	4	451	c.417G>A	c.(415-417)atG>atA	p.M139I	MTMR7_ENST00000521857.1_Missense_Mutation_p.M139I	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	139	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TAGGGAGGCCCATCCGCGTGT	0.463000													4	53					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53824999	53824999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53824999G>A	ENST00000257863.4	+	11	1544	c.1464G>A	c.(1462-1464)tgG>tgA	p.W488*	AMHR2_ENST00000379791.3_Nonsense_Mutation_p.W393*|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	488	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AAGACTGTTGGGATGCAGACC	0.597000													5	90					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109540670	109540670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109540670C>T	ENST00000336865.2	+	4	742	c.533C>T	c.(532-534)tCt>tTt	p.S178F	UNG_ENST00000242576.2_Missense_Mutation_p.S187F	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	187					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						AAAGAGTTGTCTACAGACATA	0.363000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				5	59					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541984	44541984	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44541984G>A	ENST00000436261.1	-	4	445	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	95					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CTAACTCTTTGAAGGTATCTT	0.398000													4	22					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6473933C>T	ENST00000382599.4	-	1	240	c.24G>A	c.(22-24)cgG>cgA	p.R8R	PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	8					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GGTTAATTTTCCGCGTGTCCG	0.667000													10	160					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880807	64880807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64880807G>A	ENST00000169565.3	+	4	599	c.599G>A	c.(598-600)aGg>aAg	p.R200K	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	203				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGTATGGATAGGCTGGGCCTG	0.572000													10	100					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115714	220115714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220115714G>A	ENST00000392088.2	-	4	1217	c.662C>T	c.(661-663)tCc>tTc	p.S221F	TUBA4A_ENST00000248437.4_Missense_Mutation_p.S236F|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	236					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGATGGAGGAGACAATTTG	0.557000													10	51					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6714448	6714448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6714448C>T	ENST00000245907.6	-	5	606	c.514G>A	c.(514-516)Ggc>Agc	p.G172S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	172					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACCGGGATGCCTTCCGGGTTC	0.562000													9	33					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233445	43233445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43233445G>A	ENST00000327495.5	-	5	1257	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	PSG3_ENST00000595140.1_Missense_Mutation_p.S358F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	358	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGTGGGTTAGAGTCCGCGAA	0.453000													15	85					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933740	73933740	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73933740C>T	ENST00000476977.1	+	6	2298	c.605_splice	c.e6-1	p.P203_splice	GTF2IRD1_ENST00000265755.3_Splice_Site_p.P203_splice|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Splice_Site_p.P235_splice|GTF2IRD1_ENST00000424337.2_Splice_Site_p.P203_splice			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	203						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTACTCAGGCCACTTGAGGA	0.592000													36	155					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	619080	619080	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:619080C>T	ENST00000358353.3	-	14	1801	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	CDHR5_ENST00000397542.2_Silent_p.T493T|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	493					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CAGAGCTGGTCGTGGAGGGTC	0.677000													10	37					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736868	31736868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31736868C>T	ENST00000375686.3	-	10	1667	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.G477E|VWA7_ENST00000447450.1_Missense_Mutation_p.G477E	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	477						extracellular region											GATCACCTCTCCTCCTGAGGC	0.572000													16	251					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042273	135042273	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135042273T>A	ENST00000393229.3	+	2	831	c.55T>A	c.(55-57)Tat>Aat	p.Y19N	NTNG2_ENST00000393228.4_Missense_Mutation_p.Y19N|NTNG2_ENST00000360670.3_Missense_Mutation_p.Y19N|NTNG2_ENST00000372179.3_Missense_Mutation_p.Y19N	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	19					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTCTGGGGACTATGACATCTG	0.627000													6	92					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328124	74328124	+	Silent	SNP	C	C	T	rs145127312	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74328124C>T	ENST00000268059.6	+	8	2418	c.2322C>T	c.(2320-2322)gcC>gcT	p.A774A	PML_ENST00000268058.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Silent_p.A726A|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAAGCAGAGCCCAGACTCTTG	0.562000			T	"""RARA, PAX5"""	"""APL, ALL"""								7	55					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656824	31656824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31656824G>A	ENST00000375842.4	-	13	1483	c.497C>T	c.(496-498)cCc>cTc	p.P166L	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.P385L|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P352L			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	385						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAAGGCCAAGGGCACCAGGTC	0.582000													10	191					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40498622	40498622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40498622G>A	ENST00000264657.5	-	3	550	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000588969.1_Nonsense_Mutation_p.Q80*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.Q80*|STAT3_ENST00000585517.1_Nonsense_Mutation_p.Q80*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	80					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGATTGTGCTGATAGAGAACA	0.468000									Hyperimmunoglobulin E Recurrent Infection Syndrome				11	189					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36757051	36757051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36757051C>T	ENST00000354618.5	+	6	2046	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	THRAP3_ENST00000469141.2_Missense_Mutation_p.R608C|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	608					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAGGAGTTTCGTTCCATTTT	0.463000			T	USP6	aneurysmal bone cysts								31	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085999	9085999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9085999G>A	ENST00000397910.4	-	1	6019	c.5816C>T	c.(5815-5817)tCa>tTa	p.S1939L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1939	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAATGGATGAAAAAGGCAA	0.488000													6	23					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220420865	220420865	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220420865G>A	ENST00000404537.1	-	14	4542	c.4486C>T	c.(4486-4488)Ctg>Ttg	p.L1496L	OBSL1_ENST00000603926.1_Silent_p.L1496L|OBSL1_ENST00000265318.4_Silent_p.A1362A|OBSL1_ENST00000373876.1_Silent_p.L1404L|OBSL1_ENST00000265317.5_Silent_p.L395L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1496	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCCATGGACAGGCGAGAGTCG	0.672000													12	30					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102338148	102338148	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:102338148C>T	ENST00000395065.3	-	6	695	c.594G>A	c.(592-594)ctG>ctA	p.L198L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Silent_p.L109L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	198						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTCTGACTTCAGCTCCCTGT	0.502000													7	35					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10283842	10283842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10283842G>A	ENST00000256458.4	+	13	1898	c.1808G>A	c.(1807-1809)aGg>aAg	p.R603K		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	603					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGCCAAAAGGAAACTGATG	0.418000													4	60					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402392	33402392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:33402392G>A	ENST00000358763.2	-	2	498	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SYN3_ENST00000332840.5_Missense_Mutation_p.P86S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	86	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGAACAATGGGCGTGGAGGGA	0.557000													17	113					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42847676	42847676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42847676C>T	ENST00000334370.4	+	9	2196	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	MEGF8_ENST00000251268.6_Missense_Mutation_p.L521F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	521						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCTGCGGTGCTTGGTGGCAG	0.637000													7	57					0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54661189	54661189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54661189G>A	ENST00000419823.2	-	2	325	c.101C>T	c.(100-102)tCa>tTa	p.S34L	MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000401046.3_5'UTR|CYB5RL_ENST00000497820.1_Missense_Mutation_p.S34L|RP11-446E24.4_ENST00000311841.7_Missense_Mutation_p.S34L|CYB5RL_ENST00000287899.8_Missense_Mutation_p.S34L|CYB5RL_ENST00000534324.1_Missense_Mutation_p.S34L|CYB5RL_ENST00000537208.1_Missense_Mutation_p.S34L|CYB5RL_ENST00000542737.1_Missense_Mutation_p.S34L	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	34							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CACACAGGGTGAGCAGCCACT	0.612000													6	81					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301836	42301836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42301836C>T	ENST00000357396.3	+	2	621	c.380C>T	c.(379-381)tCa>tTa	p.S127L	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.S127L|CEACAM3_ENST00000221999.4_Missense_Mutation_p.S127L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	127	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GTCATAAAGTCAGATCTTGTG	0.453000													26	176					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37061859	37061859	+	Missense_Mutation	SNP	C	C	T	rs151119913		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37061859C>T	ENST00000231790.2	+	11	1159	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	MLH1_ENST00000539477.1_Missense_Mutation_p.H74Y|MLH1_ENST00000435176.1_Missense_Mutation_p.H217Y|MLH1_ENST00000455445.2_Missense_Mutation_p.H74Y|MLH1_ENST00000458205.2_Missense_Mutation_p.H74Y|MLH1_ENST00000536378.1_Missense_Mutation_p.H74Y	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	315					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCATGAAGTTCACTTCCTGCA	0.498000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	43					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739452	28739452	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:28739452A>C	ENST00000257197.3	-	2	365	c.104T>G	c.(103-105)cTt>cGt	p.L35R	DSC1_ENST00000257198.5_Missense_Mutation_p.L35R|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	35					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGGAACTCGAAGATAAACTTT	0.333000													4	30					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55853500	55853500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55853500G>A	ENST00000422046.2	-	7	1131	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CES1_ENST00000360526.3_Missense_Mutation_p.H285Y|CES1_ENST00000361503.4_Missense_Mutation_p.H284Y			P23141	EST1_HUMAN	carboxylesterase 1	284					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CGCAGGCAGTGAACCATGACA	0.517000													5	59					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1098761	1098761	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1098761C>T	ENST00000441003.2	+	37	7158	c.7131C>T	c.(7129-7131)gcC>gcT	p.A2377A	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4739						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTACGCAGCCCTCTGTGCCC	0.662000													3	6					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27497395	27497395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27497395G>A	ENST00000356183.4	-	24	3796	c.3781C>T	c.(3781-3783)Ctt>Ttt	p.L1261F	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1261F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1261						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTGACACGAAGCCGCGTCATC	0.572000													11	161					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412470	154412470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:154412470G>A	ENST00000414028.2	+	3	1077	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OPRM1_ENST00000428397.2_Missense_Mutation_p.E343K|OPRM1_ENST00000435918.2_Missense_Mutation_p.E343K|OPRM1_ENST00000337049.4_Missense_Mutation_p.E343K|OPRM1_ENST00000434900.2_Missense_Mutation_p.E436K|OPRM1_ENST00000524163.1_Missense_Mutation_p.E343K|OPRM1_ENST00000229768.5_Missense_Mutation_p.E343K|OPRM1_ENST00000518759.1_Missense_Mutation_p.E262K|OPRM1_ENST00000452687.2_Missense_Mutation_p.E343K|OPRM1_ENST00000522555.1_Missense_Mutation_p.E243K|OPRM1_ENST00000520708.1_Missense_Mutation_p.E243K|OPRM1_ENST00000419506.2_Missense_Mutation_p.E343K|OPRM1_ENST00000330432.7_Missense_Mutation_p.E343K|OPRM1_ENST00000522236.1_Missense_Mutation_p.E243K|OPRM1_ENST00000360422.4_Missense_Mutation_p.E343K	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	343					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATTTCTGGATGAAAACTTCAA	0.448000													5	28					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50049127	50049127	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50049127C>T	ENST00000371564.3	-	9	2418	c.2199G>A	c.(2197-2199)acG>acA	p.T733T	NFATC2_ENST00000414705.1_Silent_p.T713T|NFATC2_ENST00000396009.3_Silent_p.T733T	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	733					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGAGAGCCCCGTGCGGAACT	0.682000													6	38					0	0	1	0	0
TEX37	200523	broad.mit.edu	37	2	88828842	88828842	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:88828842C>T	ENST00000303254.3	+	4	535	c.393C>T	c.(391-393)gaC>gaT	p.D131D		NM_152670.2	NP_689883.1			testis expressed 37																		AGAGTGCTGACTTTCCGTGCC	0.572000													16	66					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190129896	190129896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:190129896C>T	ENST00000367462.3	-	7	1317	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.M260I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		362						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAGTTGTTTCATGCTGTTCT	0.403000													6	15					0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69093224	69093224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69093224C>T	ENST00000295379.1	-	2	972	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	272					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GAAATCATTTCATTCAGTTCC	0.463000													4	18					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464978	120464978	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120464978G>A	ENST00000256646.2	-	28	5313	c.5094C>T	c.(5092-5094)atC>atT	p.I1698I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1698					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTGCCATGATTACCCCCA	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				34	374					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042398	60042398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60042398G>A	ENST00000397786.2	-	20	4889	c.4813C>T	c.(4813-4815)Ccc>Tcc	p.P1605S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1605					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCTGAGTGGGAAGTGAAGAT	0.403000													5	21					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33440071	33440071	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33440071G>A	ENST00000336431.5	-	12	1518	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	492					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGCTGGTTCAGGGAGCTGGGG	0.637000													7	58					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939144	2939144	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2939144G>A	ENST00000378404.2	+	1	1099	c.894G>A	c.(892-894)gaG>gaA	p.E298E		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	298						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TCTTTGGGGAGATTGTGCTGT	0.602000													18	109					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409013	56409013	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56409013C>T	ENST00000544374.1	-	1	934	c.906G>A	c.(904-906)aaG>aaA	p.K302K	OR5AP2_ENST00000302981.1_Silent_p.K301K			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTTTTACATCCTTATTTTTTA	0.343000													3	30					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	26978217	26978217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:26978217C>T	ENST00000443698.1	+	3	383	c.212C>T	c.(211-213)cCt>cTt	p.P71L	IFT74_ENST00000380062.5_Missense_Mutation_p.P71L|IFT74_ENST00000429045.2_Missense_Mutation_p.P71L|IFT74_ENST00000433700.1_Missense_Mutation_p.P71L	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	71						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GCCCATCGCCCTGTAACACAA	0.438000													3	15					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20998678	20998678	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20998678G>A	ENST00000261383.3	-	47	6974	c.6975C>T	c.(6973-6975)ttC>ttT	p.F2325F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2325					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)		TCACCATGTTGAAAAAGACCT	0.413000													12	71					0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40746990	40746990	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40746990A>T	ENST00000337702.4	-	2	283	c.131T>A	c.(130-132)aTt>aAt	p.I44N	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	44							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTACGTTTAATGGCATGAAG	0.428000													5	24					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595296	36595296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36595296G>A	ENST00000299440.5	+	2	554	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	148	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAAAGAGAGCTACTTCCTG	0.493000									Familial Hemophagocytic Lymphohistiocytosis				3	21					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25255248	25255248	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:25255248G>A	ENST00000216962.4	+	5	659	c.549G>A	c.(547-549)tgG>tgA	p.W183*		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	183					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CCGATGACTGGCTGCGCTACG	0.652000													4	67					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73406493	73406493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:73406493C>T	ENST00000398809.4	+	14	1958	c.1568C>T	c.(1567-1569)cCt>cTt	p.P523L	CDH23_ENST00000299366.7_Intron|CDH23_ENST00000461841.3_Missense_Mutation_p.P568L|CDH23_ENST00000398842.3_Missense_Mutation_p.P523L|CDH23_ENST00000224721.6_Intron	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCCAAATCCCTGAGCTGTGT	0.537000													3	20					0	0	1	0	0
PCYT1A	5130	broad.mit.edu	37	3	195975103	195975103	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195975103G>A	ENST00000292823.2	-	5	481	c.309C>T	c.(307-309)ttC>ttT	p.F103F	PCYT1A_ENST00000431016.1_Silent_p.F103F|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.F103F	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	103	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	ACGTATTAGGGAAAAGGTTCT	0.443000													12	122					0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32636340	32636340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32636340G>A	ENST00000373625.3	+	14	1549	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	KPNA6_ENST00000545542.1_Missense_Mutation_p.E491K|KPNA6_ENST00000537234.1_Missense_Mutation_p.E483K|RP4-622L5.2_ENST00000515055.1_RNA	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	486					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAGAGCCACGAGAACCAGGA	0.478000													15	59					0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084560	31084560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31084560G>A	ENST00000376288.2	-	2	858	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	278	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TTGCCTGGAAGGCCACCATTG	0.597000													5	49					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651442	8651442	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8651442C>T	ENST00000270328.4	-	19	2669	c.2403_splice	c.e19+1	p.M801_splice	ADAMTS10_ENST00000595838.1_Splice_Site_p.M288_splice|ADAMTS10_ENST00000597188.1_Splice_Site_p.M801_splice			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	97					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104378825	104378825	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104378825C>T	ENST00000369899.2	+	11	1445	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	SUFU_ENST00000369902.3_Intron	NM_001178133.1	NP_001171604.1	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	433					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ATCCTCAGCTCTGAACCTATC	0.527000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				7	70					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234627835	234627835	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234627835C>T	ENST00000373409.3	+	1	412	c.369C>T	c.(367-369)gcC>gcT	p.A123A	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TATCTTTGGCCCTTCATAGGT	0.438000													22	155					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786364	35786364	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35786364G>A	ENST00000537831.2	+	0	107				MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Intron|MAG_ENST00000392213.3_Intron	NM_001199216.1	NP_001186145.1	P20916	MAG_HUMAN	myelin associated glycoprotein						blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCAGGTAACGGCTGACAGGTG	0.587000													18	193					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073098	134073098	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:134073098C>T	ENST00000264360.4	+	1	2629	c.1803C>T	c.(1801-1803)acC>acT	p.T601T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	601	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACCTGCTCACCCGCGTGGCCG	0.677000													8	42					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534928	70534928	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70534928G>A	ENST00000323786.5	-	9	1149	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	372					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTTCTTGAGGAAGCGTAAGT	0.488000													9	63					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	661694	661694	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:661694G>A	ENST00000266383.5	+	13	1283	c.1270_splice	c.e13+1	p.G424_splice		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	424						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGAGCAGCCAGGTACAGAGTG	0.607000													6	39					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54258908	54258908	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:54258908G>A	ENST00000371429.3	-	14	2227	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	NDC1_ENST00000537333.1_Silent_p.F208F|NDC1_ENST00000234725.8_Silent_p.F428F|NDC1_ENST00000540001.1_Intron	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		TTACCTTACTGAAAAAATACA	0.303000													31	87					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22872493	22872493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22872493C>T	ENST00000283645.4	+	22	3152	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.P1008S	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	1008					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGGATCCTTTCCCCATTGTGA	0.328000													10	65					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881128	173881128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173881128C>T	ENST00000367698.3	-	3	551	c.433G>A	c.(433-435)Gag>Aag	p.E145K	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GATGTTTTCTCAGATATGGTG	0.433000													9	44					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147183	145147183	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:145147183G>A	ENST00000558170.2	-	10	4664	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F	ZEB2_ENST00000409487.3_Silent_p.F1160F|ZEB2_ENST00000303660.4_Silent_p.F1160F|ZEB2_ENST00000539609.3_Silent_p.F1136F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1160	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCCTCCTCGAACTCCTCGT	0.522000													9	132					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030176	95030176	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95030176G>A	ENST00000557004.1	+	2	778	c.357G>A	c.(355-357)agG>agA	p.R119R	SERPINA4_ENST00000298841.5_Silent_p.R119R|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.R119R			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	119					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATGTCCATAGGGGCTTCCAGC	0.617000													6	68					0	0	1	0	0
XK	7504	broad.mit.edu	37	X	37587525	37587525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:37587525C>T	ENST00000378616.3	+	3	1348	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	382					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTCTTTTCTTCCAGTGTTTCT	0.488000													3	9					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76940676	76940676	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76940676C>T	ENST00000257626.7	-	31	2642	c.2564G>A	c.(2563-2565)tGa>tAa	p.*855*	GSAP_ENST00000441833.2_Silent_p.*176*	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TTTTCTTTTTCATAAGCCTAA	0.368000													5	37					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80445839	80445839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80445839G>A	ENST00000390006.4	+	11	1474	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	NARF_ENST00000457415.3_Missense_Mutation_p.D439N|NARF_ENST00000345415.7_Missense_Mutation_p.D345N|NARF_ENST00000309794.10_Missense_Mutation_p.D393N	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	393						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGACATGCGGATAAGGCCCT	0.562000													19	66					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697457	48697457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48697457G>A	ENST00000544264.1	-	1	2891	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R871W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507000													6	66					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31337476	31337476	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31337476G>A	ENST00000215862.4	-	10	1945	c.582C>T	c.(580-582)ttC>ttT	p.F194F	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Silent_p.F256F	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	256							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GCCCATGGATGAAGATCCTCA	0.597000													3	19					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079742	44079742	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079742C>T	ENST00000272286.2	+	6	789	c.699C>T	c.(697-699)atC>atT	p.I233I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	233	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAAAGGAATCCTTATTCTCG	0.612000													19	289					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67776851	67776851	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:67776851G>A	ENST00000255674.6	-	28	4072	c.3786C>T	c.(3784-3786)tcC>tcT	p.S1262S	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.S1262S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1262							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCCGCTCAAGGGACGGCAGGC	0.512000													8	43					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167980	161167980	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161167980C>T	ENST00000367996.4	-	1	866	c.438G>A	c.(436-438)ggG>ggA	p.G146G	ADAMTS4_ENST00000367995.3_Silent_p.G146G	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	146					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACAGGGCTCCCCCATCCCAGT	0.642000													15	63					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152537302	152537302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152537302G>A	ENST00000397345.3	-	30	3186	c.2984C>T	c.(2983-2985)tCg>tTg	p.S995L	NEB_ENST00000604864.1_Missense_Mutation_p.S995L|NEB_ENST00000409198.1_Missense_Mutation_p.S995L|NEB_ENST00000603639.1_Missense_Mutation_p.S995L|NEB_ENST00000427231.2_Missense_Mutation_p.S995L|NEB_ENST00000172853.10_Missense_Mutation_p.S995L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	995					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATCGAGGTAAACTT	0.348000													5	75					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483499	12483499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12483499G>A	ENST00000535902.1	-	4	1321	c.758C>T	c.(757-759)tCa>tTa	p.S253L	MANSC1_ENST00000545735.1_Missense_Mutation_p.S172L|MANSC1_ENST00000396349.3_Missense_Mutation_p.S219L			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	253	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGGTGTCACTGAAGCATTGGT	0.567000													5	45					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30668355	30668355	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30668355G>A	ENST00000376406.3	-	15	6804	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L	MDC1_ENST00000376405.2_Silent_p.L1789L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2053	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCAACCCGTAGTGGAATGGAG	0.542000								Other conserved DNA damage response genes					5	86					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595425	44595425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44595425C>T	ENST00000372299.3	+	2	540	c.482C>T	c.(481-483)tCg>tTg	p.S161L	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	161					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CTGCCAGTCTCGGCTTCCACT	0.577000													6	36					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284651	223284651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223284651C>T	ENST00000540964.1	-	4	2184	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	TLR5_ENST00000342210.6_Missense_Mutation_p.D575N			O60602	TLR5_HUMAN	toll-like receptor 5	575			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		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)		TGAGTTATATCCAAGACACTA	0.388000													8	17					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104116342	104116342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:104116342C>T	ENST00000361355.4	+	6	1142	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	176					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CAGAGATTGTCGTCTGGTTGG	0.363000													5	128					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48267003	48267003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48267003C>T	ENST00000435803.1	+	6	637	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	205					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAGTGAACCTTCTCCAGAC	0.353000													3	19					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55186844	55186844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55186844C>T	ENST00000371281.3	+	4	487	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	TTC4_ENST00000371284.5_3'UTR|MROH7_ENST00000414150.2_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	134							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AGGCAATTTTCGTTCTGCTCT	0.358000													3	15					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114372269	114372269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114372269G>A	ENST00000359785.5	-	18	2330	c.2195C>T	c.(2194-2196)tCa>tTa	p.S732L	PTPN22_ENST00000538253.1_Missense_Mutation_p.S488L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.S677L|PTPN22_ENST00000525799.1_Missense_Mutation_p.S605L|PTPN22_ENST00000420377.2_Missense_Mutation_p.S732L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	732					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGATGTTGAATTTTCCAT	0.363000													33	80					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182615970	182615970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182615970C>T	ENST00000483095.2	-	7	700	c.443G>A	c.(442-444)gGa>gAa	p.G148E	RGS8_ENST00000367557.4_Missense_Mutation_p.G148E|RGS8_ENST00000258302.4_Missense_Mutation_p.G166E|RGS8_ENST00000367556.1_Missense_Mutation_p.G148E			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	148	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GTGTACTTTTCCTTGGGCTTG	0.498000													7	126					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327577	74327577	+	Missense_Mutation	SNP	C	C	T	rs147652568		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74327577C>T	ENST00000268059.6	+	8	1871	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	PML_ENST00000268058.3_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_Silent_p.L605L|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S544F|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	44					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCAGCCCACTCCTCGCCAGCC	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								13	214					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77708953	77708953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77708953G>A	ENST00000328313.5	+	3	732	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	171					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)			AAATGAGACGGAGTGGAGAGC	0.592000													19	41					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131548	147131548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147131548G>A	ENST00000369238.5	-	3	889	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	ACP6_ENST00000392988.2_Missense_Mutation_p.P148S	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	148					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GAAAGAAAGGGAATGTCTTCC	0.483000													4	29					0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84189347	84189347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84189347C>T	ENST00000378553.5	+	5	858	c.734C>T	c.(733-735)cCc>cTc	p.P245L	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P245L	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	245					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GAAAGCATGCCCGATTTGGTA	0.413000													10	46					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3969754	3969754	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3969754G>A	ENST00000381638.2	-	28	4360	c.4236C>T	c.(4234-4236)aaC>aaT	p.N1412N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1412							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCTCTCAGGGTTCACCTCAG	0.463000													7	147					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898126	175898126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:175898126G>A	ENST00000359240.3	+	5	2120	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	ADAM29_ENST00000404450.4_Missense_Mutation_p.G484R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G484R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G484R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	484	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTGGAAGATGGAATTCCCTG	0.458000													4	23					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022835	18022835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:18022835G>A	ENST00000205890.5	+	2	1059	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	241	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTATCACCGCGACGGCGACGA	0.652000													4	23					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338912	19338912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19338912C>T	ENST00000252575.5	+	8	2526	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	NCAN_ENST00000538881.1_Missense_Mutation_p.P279L	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	828					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACTGTGAATCCCATGGATTCC	0.562000													12	59					0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231036812	231036812	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231036812C>T	ENST00000258381.6	-	16	1862	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	SP110_ENST00000358662.4_Silent_p.L595L	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	595	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTGCCTCTCCAGGGTCTTAG	0.522000													11	105					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12954351	12954351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12954351G>A	ENST00000251472.4	+	4	296	c.257G>A	c.(256-258)gGa>gAa	p.G86E	MAST1_ENST00000591495.1_Missense_Mutation_p.G82E	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	86					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGGGCGGACGGACGCCGGTGG	0.672000													5	63					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156507044	156507044	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156507044G>A	ENST00000361170.2	-	27	3361	c.3351C>T	c.(3349-3351)atC>atT	p.I1117I	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1117	Ras-GAP.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCGTAGGGCGATGTCCAGTC	0.557000													11	69					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219538	126219538	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126219538C>T	ENST00000290868.2	-	11	1198	c.1145_splice	c.e11+1	p.S382_splice	UROC1_ENST00000383579.3_Splice_Site_p.S442_splice	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	382					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CAAGTAGCACCTTTCCTGGAC	0.602000													7	85					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838890	100838890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:100838890G>A	ENST00000369208.3	-	12	2430	c.1648C>T	c.(1648-1650)Cgt>Tgt	p.R550C	SIM1_ENST00000262901.4_Missense_Mutation_p.R550C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	550	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGCTCAGTACGATATCGGTCA	0.423000													4	50					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134459920	134459920	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:134459920G>A	ENST00000372195.1	-	20	3033	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F	RAPGEF1_ENST00000372190.3_Silent_p.F931F|RAPGEF1_ENST00000372189.3_Silent_p.F913F			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	913	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGATCTTGATGAACTTCAAGA	0.567000													14	92					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55072914	55072914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55072914C>T	ENST00000371316.3	+	14	1560	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.S493L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	493	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ATCCTGGCCTCGAGGCGGAAG	0.627000													12	45					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70519861	70519861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70519861C>T	ENST00000535149.1	+	10	1727	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S	NONO_ENST00000373856.3_Missense_Mutation_p.P451S|NONO_ENST00000276079.8_Missense_Mutation_p.P451S|NONO_ENST00000373841.1_Missense_Mutation_p.P451S|NONO_ENST00000490044.1_3'UTR	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	451	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGGTGGAACTCCTCCTGCATT	0.463000			T	TFE3	papillary renal cancer								6	40					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750111	140750111	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140750111C>T	ENST00000576222.1	+	1	281	c.150C>T	c.(148-150)ctC>ctT	p.L50L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGAACCTCGCCAAGGACC	0.537000													7	96					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784261	9784261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9784261G>A	ENST00000304374.2	+	1	1004	c.608G>A	c.(607-609)tGg>tAg	p.W203*		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	203					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGACGCCCTGGGAGGAGGAC	0.592000													5	73					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260357	66260357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66260357C>T	ENST00000532677.1	+	10	1617	c.1216C>T	c.(1216-1218)Cct>Tct	p.P406S	DPP3_ENST00000360510.2_Missense_Mutation_p.P387S|DPP3_ENST00000541961.1_Missense_Mutation_p.P387S|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.P407S|DPP3_ENST00000453114.1_Missense_Mutation_p.P387S|DPP3_ENST00000530165.1_Missense_Mutation_p.P357S	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	387					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCCGGCATCCCTGCCGGCAT	0.612000													4	105					0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56487266	56487266	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56487266A>T	ENST00000566157.1	+	2	369	c.246A>T	c.(244-246)gaA>gaT	p.E82D	OGFOD1_ENST00000568397.1_Missense_Mutation_p.E82D	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	82							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TTCAGAAGGAACTGATGAACT	0.408000													4	55					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219603031	219603031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219603031C>T	ENST00000392102.1	+	3	972	c.632C>T	c.(631-633)tCc>tTc	p.S211F	TTLL4_ENST00000457313.1_Missense_Mutation_p.S46F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S211F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S211F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	211					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCACTCTCTTCCTCCTATAAG	0.532000													12	73					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005077	42005077	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42005077G>A	ENST00000395925.3	-	15	3678	c.3594C>T	c.(3592-3594)gtC>gtT	p.V1198V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1198					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCGGGTGGACGACCATGCCGT	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				10	95					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229679	140229679	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140229679C>T	ENST00000378122.3	+	1	2323	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.F533F|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTACAGTTCCAGGTGAGCG	0.677000													11	136					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568707	61568707	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61568707C>T	ENST00000577647.1	+	8	1200	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ACE_ENST00000428043.1_Silent_p.A959A|ACE_ENST00000490216.2_Silent_p.A385A|ACE_ENST00000421982.2_Silent_p.A205A|ACE_ENST00000413513.3_Silent_p.A385A|ACE_ENST00000290863.6_Silent_p.A385A|ACE_ENST00000290866.4_Silent_p.A959A			P12821	ACE_HUMAN	angiotensin I converting enzyme	959	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCTGCCACGCCTCGGCCTGGG	0.607000													10	85					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110456	7110456	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7110456C>T	ENST00000306904.5	+	1	292	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	35	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.V35V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGCATCGTCGAGGTGCTCC	0.597000													4	11					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64547343	64547343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64547343C>T	ENST00000357395.3	+	56	11563	c.419C>T	c.(418-420)tCa>tTa	p.S140L	SYNE2_ENST00000555002.1_Missense_Mutation_p.S412L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3811L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S140L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3778L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3778L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3778	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTAGAACCTCACAGTTGAAT	0.413000													6	41					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154680484	154680484	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154680484G>A	ENST00000271915.3	-	8	2479	c.2164C>T	c.(2164-2166)Ccg>Tcg	p.P722S	KCNN3_ENST00000515643.1_Intron|KCNN3_ENST00000361147.4_Missense_Mutation_p.P417S|KCNN3_ENST00000358505.2_Missense_Mutation_p.P409S	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	727						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TACGGGGTCGGGAAGGAGGTG	0.562000													19	158					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33003895	33003895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:33003895G>A	ENST00000340811.4	-	5	1291	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	PKP2_ENST00000070846.6_Missense_Mutation_p.R395C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	395					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGGATGCCACGAAGCTGGTTA	0.408000													9	58					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47469047	47469047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47469047G>A	ENST00000265565.5	-	5	933	c.521C>T	c.(520-522)cCt>cTt	p.P174L	SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	174					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAAGTTCCCAGGGGACAGCAG	0.567000													6	72					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384451	2384451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2384451C>T	ENST00000202625.2	+	9	1379	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F	TGM6_ENST00000381423.1_Missense_Mutation_p.L440F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	440					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CATCACTGACCTCTACAAGTA	0.592000													6	79					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178692	62178692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62178692G>A	ENST00000217188.1	-	1	165	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	42							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGGGAGCGTGGGCACTGGGTC	0.697000													3	8					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76918415	76918415	+	Missense_Mutation	SNP	G	G	A	rs111033192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76918415G>A	ENST00000409709.3	+	42	6096	c.5824G>A	c.(5824-5826)Gga>Aga	p.G1942R	MYO7A_ENST00000458637.2_Missense_Mutation_p.G1904R|MYO7A_ENST00000409619.2_Missense_Mutation_p.G1893R|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCCTCAGAGGGATTCAGCCT	0.567000													3	12					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27888772	27888772	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27888772G>A	ENST00000413272.2	-	15	2038	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F	NUGGC_ENST00000341513.6_Silent_p.F632F	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CCTGGATCAGGAAATTTTTTT	0.448000													11	118					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40039454	40039454	+	Missense_Mutation	SNP	C	C	A	rs141297025	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40039454C>A	ENST00000352035.2	-	20	2316	c.2186G>T	c.(2185-2187)cGg>cTg	p.R729L	ACLY_ENST00000590151.1_Missense_Mutation_p.R729L|ACLY_ENST00000353196.1_Missense_Mutation_p.R719L|ACLY_ENST00000537919.1_Missense_Mutation_p.R458L|ACLY_ENST00000393896.2_Missense_Mutation_p.R719L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	729					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CTTGATGCCCCGGCAAATCTT	0.532000													4	75					1	1	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255716	15255716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:15255716C>T	ENST00000378116.4	-	8	1877	c.1871G>A	c.(1870-1872)gGg>gAg	p.G624E		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	624						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGGAAGATCCCGGCATGGGG	0.637000													28	65					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845482	44845482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44845482G>A	ENST00000372262.3	-	4	1221	c.821C>T	c.(820-822)cCg>cTg	p.P274L	CDH22_ENST00000537909.1_Missense_Mutation_p.P274L|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	274	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAAACGGGGCGGGTTGTCATT	0.622000													6	93					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12882216	12882216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12882216G>A	ENST00000264827.5	-	8	765	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	HOOK2_ENST00000397668.3_Missense_Mutation_p.R199W|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	199	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTACCTGCCGCTCCAGATCC	0.597000													4	21					0	0	1	0	0
LILRA6	79168	broad.mit.edu	37	19	54744717	54744717	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54744717G>A	ENST00000440558.2	-	5	993	c.945C>T	c.(943-945)atC>atT	p.I315I	LILRA6_ENST00000396365.2_Silent_p.I315I|LILRA6_ENST00000419410.2_Silent_p.I315I|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Silent_p.I315I|LILRB3_ENST00000407860.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCCATCAGGATGTTCAGGG	0.692000													6	83					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191937867	191937867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:191937867C>T	ENST00000392320.2	-	5	736	c.422G>A	c.(421-423)aGg>aAg	p.R141K	STAT4_ENST00000358470.4_Missense_Mutation_p.R141K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	141					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTCCACATTCCTCTGTCTTTC	0.388000													4	64					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20789480	20789480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:20789480C>T	ENST00000380249.1	+	13	1692	c.1328C>T	c.(1327-1329)cCt>cTt	p.P443L	FOCAD_ENST00000338382.6_Missense_Mutation_p.P443L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	443						integral to membrane	binding										TCATTGCTTCCTATTACTGCT	0.448000													3	18					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107433709	107433709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107433709C>T	ENST00000334504.7	-	20	1572	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	COL4A6_ENST00000538570.1_Missense_Mutation_p.E447K|COL4A6_ENST00000545689.1_Missense_Mutation_p.E447K|COL4A6_ENST00000394872.2_Missense_Mutation_p.E448K|COL4A6_ENST00000372216.4_Missense_Mutation_p.E448K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	448	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGTAGAGTTTCAGTCTCAAAT	0.433000									Alport syndrome with Diffuse Leiomyomatosis				4	9					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040750	39040750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39040750G>A	ENST00000373256.4	+	6	665	c.622G>A	c.(622-624)Gcc>Acc	p.A208T		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	208					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GTATAGCACAGCCGCCCAGCA	0.597000													12	62					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332747	70332747	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70332747G>A	ENST00000338508.4	-	32	3653	c.3654C>T	c.(3652-3654)gcC>gcT	p.A1218A	SHANK2_ENST00000409161.1_Silent_p.A621A|SHANK2_ENST00000449833.2_Silent_p.A622A|SHANK2_ENST00000423696.2_Silent_p.A838A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	838					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGAGTGCCAGGGCCAGCGGGG	0.642000													5	72					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135340950	135340950	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135340950C>T	ENST00000463117.2	+	3	323	c.51C>T	c.(49-51)ctC>ctT	p.L17L	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.L17L			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	17					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGCCTTCCTCCTGCTGGTGT	0.642000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				9	83					0	0	1	0	0
HSPA8	3312	broad.mit.edu	37	11	122930713	122930713	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122930713G>A	ENST00000534624.1	-	5	864	c.588C>T	c.(586-588)ctC>ctT	p.L196L	HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000526110.1_Silent_p.L177L|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000453788.2_Silent_p.L196L|HSPA8_ENST00000227378.3_Silent_p.L196L|HSPA8_ENST00000532636.1_Silent_p.L196L	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	196	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	p.L196L(1)		breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAAAGATGAGCACGTTTC	0.408000													5	36					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457158	110457158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110457158C>T	ENST00000378402.5	+	38	5164	c.5060C>T	c.(5059-5061)tCt>tTt	p.S1687F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1687	IPT/TIG 9.				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)			TTTGCCGTTTCTTCTGCAGGT	0.438000										HNSCC(38;0.096)			5	79					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22360638	22360638	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:22360638G>A	ENST00000268383.2	-	4	775	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	156						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		ATGCAAAGCTGGGTGCCGGTT	0.537000													10	98					0	0	1	0	0
SHISA4	149345	broad.mit.edu	37	1	201860623	201860623	+	Silent	SNP	C	C	T	rs140214802	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201860623C>T	ENST00000362011.6	+	4	761	c.474C>T	c.(472-474)ttC>ttT	p.F158F	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	158	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						AGCCTGGCTTCATATACCCAC	0.582000													9	104					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664189	196664189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:196664189G>A	ENST00000312428.6	-	55	10284	c.10184C>T	c.(10183-10185)cCa>cTa	p.P3395L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3395					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCAACATTGGAATAACCTA	0.353000													6	74					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41552765	41552765	+	Silent	SNP	G	G	A	rs112451551		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552765G>A	ENST00000396942.1	-	27	3128	c.3045C>T	c.(3043-3045)tcC>tcT	p.S1015S	ANK1_ENST00000379758.2_Silent_p.S1015S|ANK1_ENST00000396945.1_Silent_p.S1015S|ANK1_ENST00000289734.7_Silent_p.S1015S|ANK1_ENST00000347528.4_Silent_p.S1015S|ANK1_ENST00000352337.4_Silent_p.S1015S|ANK1_ENST00000265709.8_Silent_p.S1056S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1015	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTTCCACACGGAGCCGTTTT	0.622000													19	112					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288023	7288023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7288023C>T	ENST00000537408.1	+	3	1058	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	CLSTN3_ENST00000266546.6_Missense_Mutation_p.R162C			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	162	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GCTGTACGATCGCATCCTGCG	0.562000													6	64					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919227	51919227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51919227C>T	ENST00000353836.5	-	5	1170	c.949G>A	c.(949-951)Gat>Aat	p.D317N	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.D317N|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.D317N|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.D259N|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.D234N|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.D269N|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.D259N|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	317	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGCCCTGAATCCCCAGCCTTC	0.672000													9	46					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129278493	129278493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129278493G>A	ENST00000393239.1	-	32	5445	c.5267C>T	c.(5266-5268)cCc>cTc	p.P1756L	PLXND1_ENST00000324093.4_Missense_Mutation_p.P1756L			Q9Y4D7	PLXD1_HUMAN	plexin D1	1756					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAGGGTGTCGGGGTCGGAGAT	0.597000													7	112					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901303	159901303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159901303C>T	ENST00000368094.1	-	12	1650	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	IGSF9_ENST00000361509.3_Missense_Mutation_p.E469K|IGSF9_ENST00000493195.1_Intron	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	485	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCACTGCATTCCCAGTGCCCG	0.642000													10	55					0	0	1	0	0
ATF7	11016	broad.mit.edu	37	12	53931283	53931283	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53931283G>A	ENST00000420353.2	-	5	467	c.318C>T	c.(316-318)atC>atT	p.I106I	ATF7_ENST00000415113.1_Silent_p.I106I|RP11-793H13.10_ENST00000591834.1_Silent_p.I106I|ATF7_ENST00000328463.7_Silent_p.I117I|ATF7_ENST00000548446.2_Silent_p.I117I|ATF7_ENST00000456903.4_Silent_p.I106I	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN	activating transcription factor 7	117	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						CTTCTTCTTTGATTTTGATGT	0.483000													5	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277299	238277299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238277299G>A	ENST00000295550.4	-	10	5259	c.4807C>T	c.(4807-4809)Ccc>Tcc	p.P1603S	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1403S|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1397S|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1402S|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1397S|COL6A3_ENST00000472056.1_Missense_Mutation_p.P996S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1603	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTATGTTGGGAAGCTCTCTG	0.552000													21	122					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641388	15641388	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15641388G>A	ENST00000437605.2	+	6	526	c.276G>A	c.(274-276)aaG>aaA	p.K92K	AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Silent_p.K92K|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	92						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GGAGCACCAAGAAGGTAACAT	0.532000													5	51					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220548	133220548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:133220548G>A	ENST00000320574.5	-	33	4208	c.4165C>T	c.(4165-4167)Cct>Tct	p.P1389S	POLE_ENST00000535270.1_Missense_Mutation_p.P1362S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1389					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)		TTGGAGCGAGGAAGGACCCGA	0.502000								DNA polymerases (catalytic subunits)					10	78					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985519	33985519	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33985519G>A	ENST00000373381.4	-	69	10805	c.10629C>T	c.(10627-10629)tcC>tcT	p.S3543S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3399						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGGCCAATGGACTCGGGGT	0.567000													11	27					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21712069	21712069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21712069G>A	ENST00000261195.2	-	10	1518	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	422					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGATCATCTCGATCTAAAATA	0.333000													6	21					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62486935	62486935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62486935G>A	ENST00000539111.2	-	4	1014	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	316					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CACATTGCCAGGATACATGTG	0.383000													5	43					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123164887	123164887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123164887C>T	ENST00000371160.1	+	5	490	c.200C>T	c.(199-201)cCa>cTa	p.P67L	STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.P67L|STAG2_ENST00000371145.3_Missense_Mutation_p.P67L|STAG2_ENST00000371157.3_Missense_Mutation_p.P67L|STAG2_ENST00000218089.9_Missense_Mutation_p.P67L			Q8N3U4	STAG2_HUMAN	stromal antigen 2	67					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTCTGGTCCAAACCGAATG	0.418000													5	30					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148912	203148912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203148912C>T	ENST00000255409.3	-	9	1113	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	330					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CTTTCCTGGTCGTCGTATCCT	0.582000													22	104					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681655	100681655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100681655C>T	ENST00000306151.4	+	3	7022	c.6958C>T	c.(6958-6960)Cct>Tct	p.P2320S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2320	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCACCTCCTCCCACTGC	0.502000													37	134					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46583360	46583360	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46583360G>A	ENST00000263734.3	+	3	798	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	96	PAS 1.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCCTTGGAGGGTTTCATTG	0.522000													5	70					0	0	1	0	0
TM2D3	80213	broad.mit.edu	37	15	102190335	102190335	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:102190335T>C	ENST00000561373.1	-	1	560	c.4A>G	c.(4-6)Aag>Gag	p.K2E	TM2D3_ENST00000428002.2_Missense_Mutation_p.K41E|TM2D3_ENST00000333202.3_Missense_Mutation_p.K67E|TM2D3_ENST00000347970.3_Missense_Mutation_p.K41E|TM2D3_ENST00000559107.1_Missense_Mutation_p.K67E			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	67						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGGACACTTCATCACATAA	0.423000													4	45					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885675	183885675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183885675C>T	ENST00000304685.3	+	17	2410	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L	RGL1_ENST00000536277.1_Missense_Mutation_p.P613L|RGL1_ENST00000539189.1_Missense_Mutation_p.P586L|RGL1_ENST00000360851.3_Missense_Mutation_p.P615L|RGL1_ENST00000367531.1_Missense_Mutation_p.P650L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	615	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TCCTCCCCTCCGTCCTGCAAC	0.507000													4	48					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945846	72945846	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72945846C>T	ENST00000311131.2	+	3	1109	c.642C>T	c.(640-642)atC>atT	p.I214I	P2RY2_ENST00000393597.2_Silent_p.I214I|P2RY2_ENST00000393596.2_Silent_p.I214I	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	214					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(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TTGCCGTCATCCTTGTCTGTT	0.642000													5	29					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925730	118925730	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118925730G>A	ENST00000404233.3	-	6	586	c.462C>T	c.(460-462)ctC>ctT	p.L154L	HYOU1_ENST00000525859.1_Silent_p.L154L|HYOU1_ENST00000529972.1_Silent_p.L154L|HYOU1_ENST00000543287.1_Silent_p.L67L	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	154						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GAGAATAATTGAGAACCATGC	0.532000													5	51					0	0	1	0	0
NAT1	9	broad.mit.edu	37	8	18079796	18079796	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:18079796C>T	ENST00000539092.1	+	5	931	c.240C>T	c.(238-240)acC>acT	p.T80T	NAT1_ENST00000535084.1_Silent_p.T80T|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000518029.1_Silent_p.T80T|NAT1_ENST00000307719.4_Silent_p.T80T|NAT1_ENST00000517492.1_Silent_p.T80T|NAT1_ENST00000520546.1_Silent_p.T80T|NAT1_ENST00000541942.1_Silent_p.T80T|NAT1_ENST00000545197.1_Silent_p.T142T	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	80					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGGCTCTGACCACTATTGGTT	0.478000													4	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067647	9067647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9067647G>A	ENST00000397910.4	-	3	20002	c.19799C>T	c.(19798-19800)aCc>aTc	p.T6600I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6602	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGAAGTGGTGGTCCCCAC	0.438000													18	67					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31913069	31913069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31913069C>T	ENST00000299367.5	+	18	2470	c.2194C>T	c.(2194-2196)Ctc>Ttc	p.L732F	CFB_ENST00000456570.1_Intron|C2_ENST00000468407.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.L518F|C2_ENST00000469372.1_Missense_Mutation_p.L486F|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.L600F	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCACATCAATCTCTTCCGCAT	0.587000													35	406					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719082	155719082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155719082C>T	ENST00000510397.1	+	3	450	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R91*|RBM46_ENST00000281722.3_Nonsense_Mutation_p.R91*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	91	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATGAATTTCGACTTATGAT	0.343000													4	30					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8192670	8192670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8192670C>T	ENST00000162391.3	+	2	1387	c.242C>T	c.(241-243)tCc>tTc	p.S81F	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S81F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	81					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GCCATCAACTCCTCTCCAGCC	0.517000													8	63					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130788433	130788433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:130788433C>T	ENST00000276708.4	-	3	1200	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	107						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGGCCTCCCCTGACACACTC	0.478000													4	70					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31476217	31476217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31476217C>T	ENST00000457010.2	+	4	2574	c.1873C>T	c.(1873-1875)Cca>Tca	p.P625S	ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000563544.1_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	440							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGTGAGTTCCCATACCCACC	0.687000													3	19					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984762	68984762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:68984762C>T	ENST00000288368.4	+	14	1803	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	509	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTACAAATCTGTGGTCATG	0.338000													5	43					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281976	71281976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:71281976G>A	ENST00000335793.3	-	2	1058	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	CDC42EP4_ENST00000439510.2_Missense_Mutation_p.L152F|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	222					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ATGATGCTGAGGACGTCACCC	0.642000													4	92					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317817	30317817	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:30317817G>A	ENST00000375377.1	-	3	1361	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	420										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGTACTGAACGAAGCCGTCAT	0.522000													6	97					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829518	57829518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57829518G>A	ENST00000371030.2	+	5	4754	c.4754G>A	c.(4753-4755)aGa>aAa	p.R1585K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1585						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGAAGGGAGACACAAGACG	0.473000													7	26					0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689716	25689716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25689716G>T	ENST00000377961.2	+	9	757	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	197	EF-hand 5.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTACTGAAGAAAGGAAAAG	0.388000													6	53					0.248553	0.249882	1	1	0
SMPD4	55627	broad.mit.edu	37	2	130910937	130910937	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:130910937G>A	ENST00000409031.1	-	18	3245	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	SMPD4_ENST00000426662.2_Silent_p.I335I|SMPD4_ENST00000431183.2_Silent_p.I597I|SMPD4_ENST00000443958.2_Silent_p.I363I|SMPD4_ENST00000452225.2_Silent_p.I440I|SMPD4_ENST00000339679.7_Silent_p.I557I|SMPD4_ENST00000453750.1_Silent_p.I448I|SMPD4_ENST00000351288.6_Silent_p.I670I	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	660					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTCACCCACGATGCAGTCGG	0.627000													12	40					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6958515	6958515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6958515G>A	ENST00000389658.3	-	55	8018	c.7925C>T	c.(7924-7926)tCg>tTg	p.S2642L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2642	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCATGGAACGATCTTCTCAT	0.463000													6	44					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814281	242814281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242814281G>A	ENST00000343216.3	+	2	602	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	192						integral to membrane											GTCCACCCCTGGCGACGACCT	0.677000													6	24					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64896946	64896946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64896946G>A	ENST00000555709.1	+	13	1696	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MTHFD1_ENST00000555252.1_Missense_Mutation_p.E417K|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.E493K|MTHFD1_ENST00000545908.1_Missense_Mutation_p.E493K	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	437	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCCTATGGAAGAGGTAAAGTA	0.512000											OREG0022729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	69					0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31627633	31627633	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31627633C>A	ENST00000375911.1	-	1	916	c.92G>T	c.(91-93)cGg>cTg	p.R31L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	31										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCTGTCCACCCGTCTGGGTTC	0.612000													5	251					1	1	1	1	0
ZNF573	126231	broad.mit.edu	37	19	38231045	38231045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38231045C>T	ENST00000339503.4	-	8	673	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	ZNF573_ENST00000536220.1_Missense_Mutation_p.E28K|ZNF573_ENST00000392138.1_Missense_Mutation_p.E29K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E116K|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000357309.3_Missense_Mutation_p.E28K	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATATCTGTTTCATAAGTGGGT	0.313000													4	47					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2024297	2024297	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2024297C>T	ENST00000262113.4	+	11	1338	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	399	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGACTACGTCATCGTGACCT	0.622000													7	25					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147525724	147525724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:147525724C>T	ENST00000367481.3	+	1	164	c.56C>T	c.(55-57)tCg>tTg	p.S19L	STXBP5_ENST00000321680.6_Missense_Mutation_p.S19L|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.S19L|STXBP5_ENST00000546097.1_Missense_Mutation_p.S19L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	19					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGCTCGTCCTCGGCGTCGCAG	0.657000													4	20					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72638964	72638964	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72638964A>T	ENST00000268097.5	-	11	1737	c.1234T>A	c.(1234-1236)Ttc>Atc	p.F412I	HEXA_ENST00000429918.2_Missense_Mutation_p.F239I|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.F423I|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Missense_Mutation_p.F412I	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	412					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGGGCCCGGAAGCCGGCCTTG	0.507000													14	275					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36110382	36110382	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36110382C>A	ENST00000203166.5	+	14	1261	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	412					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						CCAGCAAGACCCGCCTGTGCC	0.632000													4	26					3.59834e-05	3.64736e-05	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214638071	214638071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:214638071G>A	ENST00000366956.5	-	2	270	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	PTPN14_ENST00000543945.1_Missense_Mutation_p.R26C	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	26	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCCAGCAGGCGAATCCGTGTG	0.602000													9	78					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483346	59483346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59483346C>T	ENST00000312828.3	-	2	1450	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	117					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GGCGGCAGCCCATGTCTCCGG	0.652000													8	44					0	0	1	0	0
CPNE7	27132	broad.mit.edu	37	16	89662898	89662898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89662898C>T	ENST00000268720.5	+	17	1901	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Missense_Mutation_p.P516S	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	591					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAGGCATCCCCTGCGGCGCT	0.637000													6	70					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811173	123811173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123811173C>T	ENST00000307033.2	+	1	924	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGCTGAATCCTGCCATCTA	0.502000													9	65					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48277183	48277183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48277183C>T	ENST00000225964.5	-	2	347	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	77	VWFC.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTCTTGGTCTCGTCACAGATC	0.682000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						15	136					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107241	123107241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123107241C>T	ENST00000264501.4	+	7	782	c.409C>T	c.(409-411)Cat>Tat	p.H137Y	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H137Y|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H137Y			Q2LD37	K1109_HUMAN	KIAA1109	137					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTGAATTTCATGTCTATAA	0.353000													7	15					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915464	32915464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:32915464G>A	ENST00000383763.4	+	2	1070	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	336					multicellular organismal development	cytoplasm	zinc ion binding	p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGCAGGGACGACAGGCAATC	0.617000													5	71					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586417	169586417	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169586417G>A	ENST00000263686.6	-	3	367	c.330C>T	c.(328-330)ctC>ctT	p.L110L	SELP_ENST00000367791.2_Silent_p.L110L|SELP_ENST00000367794.2_Silent_p.L110L|SELP_ENST00000367793.2_Silent_p.L110L|SELP_ENST00000458599.2_Silent_p.L110L|SELP_ENST00000367786.2_Silent_p.L110L|SELP_ENST00000367792.2_Silent_p.L110L|SELP_ENST00000367788.2_Silent_p.L110L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	110	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCTCGTTGGTGAGAGCCTTTT	0.478000													21	70					0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198820	161198820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161198820C>T	ENST00000367988.3	+	10	1131	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	TOMM40L_ENST00000545897.1_Missense_Mutation_p.L254F|TOMM40L_ENST00000367987.1_Missense_Mutation_p.L288F|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	288	Required for mitochondrial targeting (By similarity).				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCCTAGCCCTTGGAGCCTT	0.567000													17	100					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635073	172635073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172635073G>A	ENST00000367721.2	+	4	947	c.763G>A	c.(763-765)Gat>Aat	p.D255N	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	255					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.D255N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TACCAGTGCTGATCATTTATA	0.473000													8	66					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43924811	43924811	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43924811G>A	ENST00000262726.7	-	32	4681	c.4428C>T	c.(4426-4428)ttC>ttT	p.F1476F	EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000396231.2_Silent_p.F1324F|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1476	EF-hand 17.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAGAATATGGAAGAACTCTT	0.507000													5	129					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955002	30955002	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30955002C>T	ENST00000376296.3	+	2	1291	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	350	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACTCTGAGTCCAGCACAACCT	0.622000													7	153					0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113816807	113816807	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113816807G>C	ENST00000260191.2	+	9	1531	c.1274G>C	c.(1273-1275)gGg>gCg	p.G425A	HTR3B_ENST00000537778.1_Missense_Mutation_p.G414A	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	425					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTCATGCTGGGGATCTACACC	0.552000													4	54					0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1551762	1551762	+	Missense_Mutation	SNP	G	G	C	rs145398789	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1551762G>C	ENST00000301336.6	-	5	975	c.703C>G	c.(703-705)Ccc>Gcc	p.P235A		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	235					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTCCGAGGGGCGCCCGAGC	0.642000													4	49					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197664273	197664273	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:197664273G>A	ENST00000263956.3	-	1	152	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GTF3C3_ENST00000409364.3_Silent_p.F21F	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	21						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCCGCCGTTCGAACTCCTCAA	0.532000													10	108					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62758607	62758607	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:62758607C>A	ENST00000512091.1	+	9	2257	c.1510C>A	c.(1510-1512)Cga>Aga	p.R504R	LPHN3_ENST00000506720.1_Silent_p.R572R|LPHN3_ENST00000514157.1_Silent_p.R504R|LPHN3_ENST00000508946.1_Silent_p.R504R|LPHN3_ENST00000514591.1_Silent_p.R504R|LPHN3_ENST00000507164.1_Silent_p.R572R|LPHN3_ENST00000514996.1_Silent_p.R504R|LPHN3_ENST00000509896.1_Silent_p.R572R|LPHN3_ENST00000506746.1_Silent_p.R572R|LPHN3_ENST00000506700.1_Silent_p.R504R|LPHN3_ENST00000508693.1_Silent_p.R572R|LPHN3_ENST00000545650.1_Silent_p.R504R|LPHN3_ENST00000507625.1_Silent_p.R572R|LPHN3_ENST00000504896.1_Silent_p.R504R|LPHN3_ENST00000511324.1_Silent_p.R572R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	504					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTGGAAGCCCGAGAAATCAT	0.488000													4	12					1	1	1	1	0
POLR3D	661	broad.mit.edu	37	8	22105496	22105496	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22105496C>T	ENST00000397802.4	+	3	551	c.336C>T	c.(334-336)ggC>ggT	p.G112G	POLR3D_ENST00000306433.4_Silent_p.G112G			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	112					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTGAGCAGGGCCCAGCTGAAA	0.522000													7	40					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393422	164393422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164393422C>T	ENST00000280605.3	-	1	1625	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	489						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCAAAATTTTCTTGTGGGGTA	0.463000													5	108					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8418589	8418589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:8418589G>A	ENST00000337907.3	-	21	4640	c.4006C>T	c.(4006-4008)Ccc>Tcc	p.P1336S	RERE_ENST00000377464.1_Missense_Mutation_p.P1068S|RERE_ENST00000476556.1_Missense_Mutation_p.P782S|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1336S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1336					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTGCAGGGGGTCCAGCTCT	0.697000													5	25					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890227	24890227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:24890227G>A	ENST00000382071.2	+	2	171	c.86G>A	c.(85-87)gGa>gAa	p.G29E	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G29E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	29	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCACCCTGGAATCCCTGGG	0.557000													11	44					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326955	152326955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152326955C>T	ENST00000388718.5	-	3	3379	c.3307G>A	c.(3307-3309)Gga>Aga	p.G1103R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1103	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGTCCAAATCCAGAT	0.512000													6	93					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398251	71398251	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:71398251C>T	ENST00000392650.3	-	19	2514	c.2514G>A	c.(2512-2514)gaG>gaA	p.E838E	SDK2_ENST00000388726.3_Silent_p.E838E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	838	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGTAACCTCCTCTTCCTGTT	0.602000													5	44					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89846009	89846009	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89846009A>G	ENST00000370456.4	+	6	783	c.690A>G	c.(688-690)aaA>aaG	p.K230K	GBP6_ENST00000535065.1_Silent_p.K100K	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	230							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCTTTCCAAAACGGAAGTGTT	0.413000													10	31					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44917141	44917141	+	Missense_Mutation	SNP	C	C	T	rs144132963		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:44917141C>T	ENST00000429094.2	-	17	2435	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	NELL2_ENST00000452445.2_Missense_Mutation_p.G644E|NELL2_ENST00000437801.2_Missense_Mutation_p.G694E|NELL2_ENST00000395487.2_Missense_Mutation_p.G643E|NELL2_ENST00000551601.1_Missense_Mutation_p.G596E|NELL2_ENST00000549027.1_Missense_Mutation_p.G643E|NELL2_ENST00000333837.4_Missense_Mutation_p.G667E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	644	VWFC 3.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.G644E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTTAACTTTTCCATCATGGAT	0.403000													10	92					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21030819	21030819	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21030819T>C	ENST00000381545.3	+	10	1303	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.Y362H|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.Y362H|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.Y362H	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	362					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CGTCTTTAAATATATGGAGCA	0.348000													6	16					0	0	1	0	0
RAB10	10890	broad.mit.edu	37	2	26257559	26257559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26257559C>T	ENST00000264710.4	+	1	581	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	28					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCCTTTTTCGTTTTTCGGA	0.522000													41	121					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867768	29867768	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867768G>A	ENST00000399218.4	-	4	847	c.792C>T	c.(790-792)ttC>ttT	p.F264F	GAREM_ENST00000269209.6_Silent_p.F264F|RP11-344B2.2_ENST00000579580.1_RNA	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCTCACGGATGAAGTGGAGGT	0.537000													10	97					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30624281	30624281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30624281G>A	ENST00000376442.3	-	15	2512	c.2317C>T	c.(2317-2319)Cat>Tat	p.H773Y	DHX16_ENST00000376437.5_Missense_Mutation_p.H292Y	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	773					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ATTAGGTCATGGATCCCTAGA	0.537000													7	52					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	27964478	27964478	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27964478G>A	ENST00000375790.5	-	6	1276	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	MKX_ENST00000419761.1_Silent_p.L282L			Q8IYA7	MKX_HUMAN	mohawk homeobox	282					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCGTTTTCCAGAGTGTCTGTA	0.373000													4	9					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80373278	80373278	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80373278G>A	ENST00000313056.5	-	2	451	c.300C>T	c.(298-300)ttC>ttT	p.F100F	OGFOD3_ENST00000329197.5_Silent_p.F100F	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3									p.F100F(1)									AACTACCTTCGAACCTGCGGT	0.567000													11	160					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824439	54824439	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:54824439C>T	ENST00000243911.2	+	1	652	c.540C>T	c.(538-540)atC>atT	p.I180I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	217					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGGTGTTCATCGTCTACTCGG	0.557000													16	62					0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16142262	16142262	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16142262C>T	ENST00000380289.2	+	1	584	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	62					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCACTTTGATCAAGATCTTCT	0.493000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	22					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486211	128486211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128486211G>A	ENST00000325888.8	+	22	4219	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K	FLNC_ENST00000346177.6_Missense_Mutation_p.E1320K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1320					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCGCCTACGAGGAGGGTGA	0.662000													12	30					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516859	38516859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38516859C>T	ENST00000332509.3	-	12	1832	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R496Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R496Q	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	550					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTGGAGCCCCGGAACACCTC	0.602000													7	131					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747773	143747773	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143747773C>T	ENST00000408906.2	+	1	313	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAACAATCTCCTTTGTCCCAT	0.428000													18	85					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161840	142161840	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142161840C>T	ENST00000519811.1	+	7	1048	c.978C>T	c.(976-978)ttC>ttT	p.F326F	DENND3_ENST00000262585.2_Silent_p.F246F|DENND3_ENST00000424248.1_Silent_p.F246F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	246										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCCCTTCGTGCCCATCC	0.582000													22	101					0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52003569	52003569	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52003569A>T	ENST00000315877.10	-	6	1193	c.500T>A	c.(499-501)tTt>tAt	p.F167Y	ABHD14B_ENST00000483233.1_Missense_Mutation_p.F169Y|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000395008.2_Missense_Mutation_p.F169Y|ABHD14B_ENST00000361143.5_Missense_Mutation_p.F169Y|ABHD14B_ENST00000525795.1_Missense_Mutation_p.F169Y|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000461108.1_3'UTR			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	169						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		CAGGTGCTCAAAGCTGGTCTG	0.597000													7	145					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2705123C>T	ENST00000399655.1	+	20	3012	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_ENST00000399644.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S941F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S916F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S916F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S916F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	916					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAGCATTTCCCTGGCTGCT	0.582000													5	38					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34684359	34684359	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34684359T>A	ENST00000488417.1	+	7	1914	c.1794T>A	c.(1792-1794)ttT>ttA	p.F598L	C1orf94_ENST00000373374.3_Missense_Mutation_p.F408L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	408							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCATAAACTTTTAGATCTCCT	0.502000													11	47					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019511	41019511	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41019511C>T	ENST00000585538.1	+	0	350					NR_002773.1																						CTGTGATGCGCTTTCTGACCC	0.637000													8	154					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58831239	58831239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:58831239C>T	ENST00000355431.3	+	20	2805	c.2432C>T	c.(2431-2433)tCa>tTa	p.S811L	ARID4A_ENST00000348476.3_Missense_Mutation_p.S811L|ARID4A_ENST00000395168.3_Missense_Mutation_p.S811L|ARID4A_ENST00000431317.2_Missense_Mutation_p.S811L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	811					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGATTTCATCATTTGGCCAG	0.333000													5	21					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395958	154395958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154395958G>A	ENST00000435029.4	+	1	2699	c.2539G>A	c.(2539-2541)Gaa>Aaa	p.E847K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	847	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCAGAAAGTGAAGATAGGCC	0.438000													5	30					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31737630	31737630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31737630G>A	ENST00000215919.3	-	3	1548	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	PATZ1_ENST00000266269.5_Intron|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	NM_032051.1	NP_114440.1	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTAGGAAGAGGTTCCAGGGGC	0.612000													8	60					0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88033707	88033707	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:88033707G>A	ENST00000227266.5	-	5	862	c.748C>T	c.(748-750)Cga>Tga	p.R250*		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	250					immune response	lysosome	cysteine-type endopeptidase activity	p.R250*(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTTGGTTTCGAACAGGACTG	0.373000													5	29					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296031	37296031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37296031C>T	ENST00000315392.4	-	2	342	c.131G>A	c.(130-132)tGg>tAg	p.W44*	PLXDC1_ENST00000539608.1_5'UTR|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000394316.2_Nonsense_Mutation_p.W44*	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	44					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTCCGGTTCCAGCCCCGCAC	0.662000													9	41					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131646736	131646736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131646736C>T	ENST00000368648.3	-	11	1093	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	EBF3_ENST00000355311.5_Missense_Mutation_p.E350K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	350	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATGGTTGGTTCATTAAGGGCT	0.408000													11	103					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135587504	135587504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:135587504C>T	ENST00000513104.1	-	6	1694	c.1412G>A	c.(1411-1413)tGg>tAg	p.W471*	TRPC7_ENST00000426057.2_Nonsense_Mutation_p.W355*|TRPC7_ENST00000355180.3_Nonsense_Mutation_p.W410*	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	471					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCAGGTTCCACAAGTGCAG	0.567000													9	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445423	49445423	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49445423G>A	ENST00000301067.7	-	10	2042	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGTGGAGGGGACGTGGGAG	0.662000													7	68					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416477	9416477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9416477C>T	ENST00000328089.6	+	2	868	c.527C>T	c.(526-528)tCc>tTc	p.S176F	SPSB1_ENST00000357898.3_Missense_Mutation_p.S176F|SPSB1_ENST00000377399.2_Missense_Mutation_p.S176F	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	176	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCCTGACTCCTTCCTGGTA	0.537000													7	140					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65124131	65124131	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65124131C>T	ENST00000309880.5	+	2	1059	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	284	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						ACGTGAAGCTCTTGCCTCTGG	0.662000													7	70					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286736	55286736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55286736G>A	ENST00000336077.6	+	4	530	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.G164R|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	164	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)		ATCCAGGGAAGGGGAGGCCCA	0.612000													5	110					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739395	26739395	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26739395G>A	ENST00000272371.2	-	5	526	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	OTOF_ENST00000403946.3_Silent_p.L134L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	134					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCTCCCAGGAAGTCCCCA	0.642000													7	123					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757556	18757556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18757556C>T	ENST00000304081.4	-	8	1323	c.1223G>A	c.(1222-1224)gGg>gAg	p.G408E	NT5C1B_ENST00000359846.2_Missense_Mutation_p.G468E|NT5C1B_ENST00000600945.1_Missense_Mutation_p.G468E|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G468E	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GACAGCATCCCCATCAAAGGC	0.448000													3	19					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496727	62496727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62496727G>A	ENST00000225792.5	-	12	1782	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	DDX5_ENST00000578804.1_Missense_Mutation_p.R461C|DDX5_ENST00000450599.2_Missense_Mutation_p.R382C|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	461	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGCTTCACGAAGCACAGAG	0.423000			T	ETV4	prostate								5	26					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475411	16475411	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16475411G>A	ENST00000358432.5	-	3	439	c.285C>T	c.(283-285)ttC>ttT	p.F95F	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	95				IFIELK -> NNFELN (in Ref. 1; AAA53375).	activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGAGCTCAATGAAGATACGCT	0.557000													11	74					0	0	1	0	0
APOPT1	84334	broad.mit.edu	37	14	104040507	104040507	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104040507G>A	ENST00000409074.2	+	3	425	c.424_splice	c.e3+1	p.G142_splice	APOPT1_ENST00000477116.1_3'UTR|APOPT1_ENST00000556253.2_Splice_Site_p.D129_splice|APOPT1_ENST00000247618.4_Splice_Site_p.G129_splice|RP11-73M18.2_ENST00000472726.2_Splice_Site_p.G142_splice	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		AACTGAATCAGGTTAGTGTGT	0.373000													11	65					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381342	101381342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101381342C>T	ENST00000392979.3	+	7	884	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ANO4_ENST00000392977.3_Missense_Mutation_p.R210W|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	210						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAGCAGGTTTCGGAGATGGTT	0.507000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	118					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306802	2306802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2306802G>A	ENST00000290974.2	-	8	1604	c.1265C>T	c.(1264-1266)cCa>cTa	p.P422L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.P352L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.P392L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	422					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCACCCAAATGGGCCAGCTGG	0.692000													6	59					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360022	40360022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:40360022C>T	ENST00000338305.6	-	3	2572	c.2030G>A	c.(2029-2031)aGg>aAg	p.R677K		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	677						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGAGTCCTGGAGTCCAG	0.731000													6	14					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60589653	60589653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60589653G>A	ENST00000252996.3	-	2	1470	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	491					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTGGCAGGGCGAGGCGCCATG	0.647000													11	28					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2033496	2033496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2033496G>A	ENST00000262113.4	+	14	1759	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	540	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCGTGGCAAGGACCCGCTCAT	0.597000													4	23					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032372	4032372	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:4032372C>T	ENST00000337659.6	+	2	721	c.621C>T	c.(619-621)atC>atT	p.I207I	PRPF4B_ENST00000538861.1_Silent_p.I193I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	207	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTATTGAAATCGTTAAAGAGA	0.348000													10	85					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827452	20827452	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20827452G>A	ENST00000264198.3	-	4	926	c.790C>T	c.(790-792)Ctg>Ttg	p.L264L		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	264					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TGCCGCTGCAGATACTGCTTC	0.617000													13	56					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847758	234847758	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234847758C>T	ENST00000324695.4	+	5	505	c.465C>T	c.(463-465)ttC>ttT	p.F155F	TRPM8_ENST00000409625.1_Silent_p.F78F|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Silent_p.F105F	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	155						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCAAGAACTTCGCCCTGAAGC	0.607000													13	53					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97081280	97081280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:97081280C>T	ENST00000253262.4	-	7	1758	c.1738G>A	c.(1738-1740)Gga>Aga	p.G580R	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_Missense_Mutation_p.G565R	NM_017561.1	NP_060031.1			NUT family member 2F																		TCCTGACATCCCAAAAGCACA	0.667000													4	48					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562654	145562654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145562654C>T	ENST00000355594.4	+	10	2429	c.2342C>T	c.(2341-2343)gCt>gTt	p.A781V		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	781										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGTGGCCGCTCTGGAGCAA	0.627000													4	31					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700988	30700988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30700988G>A	ENST00000256246.2	-	1	5620	c.5546C>T	c.(5545-5547)cCa>cTa	p.P1849L		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1849										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGTTTTCCTGGATACGAATG	0.338000													4	40					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13039215	13039215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13039215G>A	ENST00000588025.1	-	8	1042	c.902C>T	c.(901-903)gCc>gTc	p.A301V	FARSA_ENST00000423140.2_Missense_Mutation_p.A230V|FARSA_ENST00000314606.4_Missense_Mutation_p.A261V			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	261					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CTGGAAGAGGGCGTCAAAGTT	0.597000													21	88					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10084879	10084879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10084879C>T	ENST00000264828.3	-	47	3557	c.3472G>A	c.(3472-3474)Gag>Aag	p.E1158K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1158	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)			TCCCCTTTCTCTCCCGGAGGG	0.607000													9	41					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712449	22712449	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22712449C>T	ENST00000390294.2	+	0	248																											GAACGGCCCCCAAACTCCTCA	0.572000													4	136					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56077729	56077729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56077729G>A	ENST00000394252.3	+	2	840	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	211							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						GACCTGGAAGGATCTTGAGAA	0.547000													4	62					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2538422	2538422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2538422C>T	ENST00000288709.6	-	7	835	c.595G>A	c.(595-597)Gag>Aag	p.E199K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E208K|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	208					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCTACGGTCTCGTTCCACCTG	0.642000													12	79					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067646	9067646	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9067646G>A	ENST00000397910.4	-	3	20003	c.19800C>T	c.(19798-19800)acC>acT	p.T6600T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6602	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCAGAAGTGGTGGTCCCCA	0.438000													18	67					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4496226	4496226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4496226C>T	ENST00000389313.4	+	3	557	c.490C>T	c.(490-492)Cca>Tca	p.P164S	SMTNL2_ENST00000338859.4_Missense_Mutation_p.P20S	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	164										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TGTTCCAGGTCCAGGCGATGG	0.662000													4	41					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93773697	93773697	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:93773697T>A	ENST00000265990.6	+	32	4803	c.4495T>A	c.(4495-4497)Ttt>Att	p.F1499I	BTAF1_ENST00000544642.1_Missense_Mutation_p.F327I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1499					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGTACTACCGTTTCTTTTGAG	0.348000													7	58					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350089	24350089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24350089G>A	ENST00000175238.6	+	15	1717	c.1634G>A	c.(1633-1635)aGa>aAa	p.R545K	ADAM7_ENST00000520720.1_Missense_Mutation_p.R317K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.R545K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	545	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGGAAAACAGATTTCTTCCC	0.388000													4	20					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3633422	3633422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3633422G>A	ENST00000294008.3	-	14	5469	c.4829C>T	c.(4828-4830)tCc>tTc	p.S1610F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1610	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTCGTCCTCGGAGTCTGAGTC	0.602000								Direct reversal of damage					13	90					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813418	25813418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25813418G>A	ENST00000244527.4	-	7	755	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F	SLC17A1_ENST00000427328.1_Missense_Mutation_p.L214F|SLC17A1_ENST00000476801.1_Missense_Mutation_p.L214F|SLC17A1_ENST00000468082.1_Missense_Mutation_p.L214F	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	214					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AACCAGAGAAGACATACGGCA	0.443000													6	31					0	0	1	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681565	44681565	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44681565A>T	ENST00000381176.4	-	4	474	c.342T>A	c.(340-342)gtT>gtA	p.V114V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	114						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAAGGTCCAGAACCAGCAGCA	0.527000													14	168					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111631566	111631566	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:111631566G>A	ENST00000369680.4	-	17	1625	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	XPNPEP1_ENST00000322238.8_Silent_p.F478F|XPNPEP1_ENST00000369683.1_Silent_p.F388F|XPNPEP1_ENST00000502935.1_Silent_p.F502F	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	459					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTCCAGTCGGGAAAACGGCTG	0.463000													5	85					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192079	152192079	+	Missense_Mutation	SNP	C	C	T	rs141565920		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152192079C>T	ENST00000368801.2	-	3	2101	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	676					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)			CCATGTTGGCCGTAGCTGGAA	0.587000													12	115					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380190	147380190	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147380190C>T	ENST00000240986.4	+	2	161	c.108C>T	c.(106-108)atC>atT	p.I36I	GJA8_ENST00000369235.1_Silent_p.I36I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	36					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGATCCTCATCCTTGGCACGG	0.587000													4	64					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788325	10788325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10788325C>T	ENST00000283025.2	-	1	477	c.406G>A	c.(406-408)Ggc>Agc	p.G136S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	136					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CGGCAGGTGCCCTCCTGCATC	0.627000													13	112					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8139498	8139498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8139498C>T	ENST00000315684.8	-	6	962	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	319					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCTCCAGTTCCAGCTCCTGC	0.567000													7	40					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245862273	245862273	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:245862273C>T	ENST00000366518.4	+	11	5073	c.4969C>T	c.(4969-4971)Ctg>Ttg	p.L1657L	KIF26B_ENST00000407071.2_Silent_p.L2038L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2038	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTACGAGTGGCTGATGAAGGA	0.557000													5	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437307	179437307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179437307C>T	ENST00000589042.1	-	326	73776	c.73552G>A	c.(73552-73554)Gat>Aat	p.D24518N	TTN_ENST00000591111.1_Missense_Mutation_p.D22877N|TTN_ENST00000359218.5_Missense_Mutation_p.D15578N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D21950N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D15453N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D15645N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22877	Fibronectin type-III 78.						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)			CCTGGTGTATCGAGAACTCTA	0.418000													3	16					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119911852	119911852	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119911852G>A	ENST00000464295.1	-	5	853	c.408C>T	c.(406-408)ggC>ggT	p.G136G	GPR156_ENST00000461057.1_Silent_p.G136G|GPR156_ENST00000315843.3_Silent_p.G136G			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	136						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGAATGGGGCCAAACACAA	0.512000													5	28					0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210749	64210749	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64210749C>T	ENST00000205948.6	-	7	841	c.804G>A	c.(802-804)gtG>gtA	p.V268V		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	268	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TGGCTTTTTTCACAGGTACTT	0.358000													13	61					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38397523	38397523	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38397523G>A	ENST00000373023.2	-	7	687	c.594C>T	c.(592-594)ggC>ggT	p.G198G	INPP5B_ENST00000373026.1_Silent_p.G198G|INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373021.1_Silent_p.G198G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	198					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGAACGGAGCCCGCCCCCT	0.672000													4	71					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220309382	220309382	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220309382G>A	ENST00000312358.7	+	2	528	c.396G>A	c.(394-396)gaG>gaA	p.E132E	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.E28E	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	132					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGACTCAGAGACGGCTGAGG	0.632000													7	44					0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79118281	79118281	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:79118281G>A	ENST00000442371.1	+	3	1923	c.984G>A	c.(982-984)agG>agA	p.R328R	GCNT1_ENST00000444201.2_Silent_p.R328R|GCNT1_ENST00000376730.4_Silent_p.R328R|GCNT1_ENST00000536223.1_Silent_p.R328R	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	328	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CCATCCAAAGGATTCCTGAAG	0.488000													5	26					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437563	58437563	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58437563G>A	ENST00000396147.1	-	4	2277	c.1986C>T	c.(1984-1986)ctC>ctT	p.L662L	ZNF418_ENST00000595830.1_Silent_p.L662L|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Silent_p.L577L|ZNF418_ENST00000425570.3_Silent_p.L683L	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GATGTCGAAGGAGAGAAGAGC	0.413000													6	53					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45567819	45567819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45567819C>T	ENST00000544944.2	+	12	2032	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	CLASRP_ENST00000391953.4_Missense_Mutation_p.S385F|CLASRP_ENST00000221455.3_Missense_Mutation_p.S447F			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	447	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGTGGGGGCTCCCGAGACGGA	0.761000													5	19					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4711405	4711405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4711405C>T	ENST00000263088.6	+	3	367	c.236C>T	c.(235-237)tCc>tTc	p.S79F	PLD2_ENST00000572940.1_Missense_Mutation_p.S79F	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	79	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCAGCGGATCCAAGGTGGCC	0.632000													12	82					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346157	102346157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:102346157C>T	ENST00000328882.4	+	1	256	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTCCACAGCTCCCAAGATGAT	0.463000													14	122					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123539081	123539081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123539081C>T	ENST00000422452.2	-	27	5254	c.5191G>A	c.(5191-5193)Ggt>Agt	p.G1731S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1724S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CGCAGGGAACCATCTGGATTC	0.537000													6	9					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138787	64138787	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64138787C>T	ENST00000528057.1	+	17	2221	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	RPS6KA4_ENST00000334205.4_Silent_p.F718F|RPS6KA4_ENST00000294261.4_Silent_p.F470F	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	718					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGGGCTTCTTCCTGAAGAGCG	0.672000													10	156					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230312225	230312225	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:230312225C>T	ENST00000341772.4	-	8	1427	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	431	EGF-like 6.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.V431V(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CGCAGGGGTCCACCTTTTCTT	0.488000													11	21					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461220	35461220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:35461220G>A	ENST00000378880.2	-	8	1500	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	PAMR1_ENST00000532848.1_Missense_Mutation_p.S312L|PAMR1_ENST00000378878.3_Missense_Mutation_p.S241L|PAMR1_ENST00000278360.3_Missense_Mutation_p.S369L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	352					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CACCAGGTCTGAAATCTTTGG	0.438000													9	60					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949026	37949026	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37949026G>A	ENST00000346872.3	-	4	385	c.324C>T	c.(322-324)ttC>ttT	p.F108F	IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000535189.1_Silent_p.F74F|IKZF3_ENST00000467757.1_Silent_p.F108F|IKZF3_ENST00000439167.2_Silent_p.F74F|IKZF3_ENST00000439016.2_Silent_p.F108F|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377945.3_Silent_p.F108F|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Silent_p.F108F|IKZF3_ENST00000350532.3_Silent_p.F108F|IKZF3_ENST00000346243.3_Silent_p.F108F	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	108					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCTACTATCGAATGAGACAA	0.408000													5	35					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106111664	106111664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106111664G>A	ENST00000357242.5	+	18	2944	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E918K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	924						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAAAGGAGATGAACTTTCCAA	0.343000													7	27					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150690264	150690264	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150690264G>C	ENST00000344419.3	+	1	237	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	IYD_ENST00000500320.3_Missense_Mutation_p.E33Q|IYD_ENST00000392256.2_Missense_Mutation_p.E33Q|IYD_ENST00000392255.3_Missense_Mutation_p.E33Q|IYD_ENST00000229447.5_Missense_Mutation_p.E33Q	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	33					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AAAGAAGGGGGAGCCTAGAAC	0.493000													6	108					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469981	72469981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72469981C>T	ENST00000360141.3	+	2	635	c.347C>T	c.(346-348)cCc>cTc	p.P116L	CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	116	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTTCATGATCCCGTTGTCGAG	0.557000													13	47					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135073606	135073606	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:135073606G>A	ENST00000428680.2	-	11	1938	c.1659C>T	c.(1657-1659)acC>acT	p.T553T	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000315544.5_Silent_p.T556T|CNOT4_ENST00000356162.4_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	556					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AATGGGAAGAGGTTGACAGTG	0.473000													4	47					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209754	19209754	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:19209754C>T	ENST00000533783.1	-	4	450	c.210G>A	c.(208-210)ggG>ggA	p.G70G	CSRP3_ENST00000265968.3_Silent_p.G70G	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	70	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						CATACCCGATCCCTTTGGGGC	0.602000													10	95					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51584128	51584128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51584128C>T	ENST00000389243.4	-	11	1747	c.808G>A	c.(808-810)Gag>Aag	p.E270K	POU6F1_ENST00000333640.10_Missense_Mutation_p.E270K|POU6F1_ENST00000550824.1_Missense_Mutation_p.E270K			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	270					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TAGTTGAGCTCCTTAGCAATT	0.557000													6	111					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917673	38917673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38917673G>A	ENST00000274276.3	+	10	1713	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	437	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTGATGTCTGGAGAATTGTGA	0.403000													4	59					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566297	102566297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102566297C>T	ENST00000370296.2	+	7	1346	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Missense_Mutation_p.R243W|PAX2_ENST00000556085.1_Missense_Mutation_p.R242W|PAX2_ENST00000428433.1_Missense_Mutation_p.R266W|PAX2_ENST00000355243.3_Missense_Mutation_p.R243W			Q02962	PAX2_HUMAN	paired box 2	266					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AGCTTTGGATCGGGTCTTTGA	0.542000													23	243					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43896246	43896246	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43896246C>T	ENST00000450892.2	-	22	4400	c.4323G>A	c.(4321-4323)aaG>aaA	p.K1441K	STRC_ENST00000541030.1_Silent_p.K668K	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1441					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGCTGCTTTCTTGGCAGCAA	0.557000													5	22					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71894588	71894588	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71894588C>T	ENST00000258104.3	+	47	5560	c.5283C>T	c.(5281-5283)gtC>gtT	p.V1761V	DYSF_ENST00000394120.2_Silent_p.V1762V|DYSF_ENST00000413539.2_Silent_p.V1792V|DYSF_ENST00000409762.1_Silent_p.V1778V|DYSF_ENST00000410041.1_Silent_p.V1779V|DYSF_ENST00000409651.1_Silent_p.V1793V|DYSF_ENST00000409744.1_Silent_p.V1769V|DYSF_ENST00000429174.2_Silent_p.V1782V|DYSF_ENST00000410020.3_Silent_p.V1800V|DYSF_ENST00000409582.3_Silent_p.V1799V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Silent_p.V1783V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1761						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGGCCTGGTCCCGGAGCACG	0.642000													10	69					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881854	38881854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38881854G>A	ENST00000274276.3	+	4	808	c.406G>A	c.(406-408)Gag>Aag	p.E136K	OSMR_ENST00000502536.1_Missense_Mutation_p.E136K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	136					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAGTTCCTGGGAGGAAGTCAG	0.423000													10	40					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284519	45284519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45284519G>A	ENST00000270279.3	+	3	619	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	CBLC_ENST00000341505.4_Missense_Mutation_p.E186K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	186	Cbl-PTB.|EF-hand-like.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCACCCTGTGGAACCAGGCTG	0.642000			M		AML								63	501					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7365869	7365869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7365869G>A	ENST00000311403.4	-	4	2771	c.2432C>T	c.(2431-2433)cCc>cTc	p.P811L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P811L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GACATCCCCGGGCCTGGTGCC	0.672000													7	62					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474168	134474168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134474168G>A	ENST00000319914.5	-	8	1826	c.799C>T	c.(799-801)Cca>Tca	p.P267S	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.P267S|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.P267S|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.P267S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	267					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCGGTAGATGGGTATCGCCCG	0.582000													9	109					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156463	145156463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:145156463G>A	ENST00000558170.2	-	8	3475	c.2291C>T	c.(2290-2292)tCc>tTc	p.S764F	ZEB2_ENST00000409487.3_Missense_Mutation_p.S764F|ZEB2_ENST00000303660.4_Missense_Mutation_p.S764F|ZEB2_ENST00000539609.3_Missense_Mutation_p.S740F	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	764						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGTAAAATGGGAAGGTTTTGT	0.403000													11	83					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113907	63113907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:63113907G>A	ENST00000251157.5	-	6	635	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L|DOCK7_ENST00000340370.5_Missense_Mutation_p.S201L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	201					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	p.S201L(1)		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						ATCAGGAAGTGAATTTTTCAA	0.393000													8	40					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31952984	31952984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31952984C>T	ENST00000432498.1	+	7	994	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000400289.1_Missense_Mutation_p.R119C|SFI1_ENST00000400288.2_Missense_Mutation_p.R201C|SFI1_ENST00000540643.1_Missense_Mutation_p.R177C|SFI1_ENST00000443326.1_Missense_Mutation_p.R119C|SFI1_ENST00000443011.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	201					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CGTGGTTGTTCGTAGGACCAA	0.468000													15	57					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292725	219292725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292725G>A	ENST00000248444.5	+	5	473	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	VIL1_ENST00000440053.1_Missense_Mutation_p.V129M|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	129	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGAAGCACGTGGAGACCAA	0.612000													16	157					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211451573	211451573	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:211451573C>T	ENST00000367005.4	+	5	598	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	RCOR3_ENST00000419091.2_Nonsense_Mutation_p.Q211*|RCOR3_ENST00000367006.4_Nonsense_Mutation_p.Q211*|RCOR3_ENST00000452621.2_Nonsense_Mutation_p.Q211*	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TAGACATAATCAGGGTGACAG	0.378000													16	71					0	0	1	0	0
CLDN22	53842	broad.mit.edu	37	4	184241037	184241037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184241037C>T	ENST00000323319.5	-	1	890	c.335G>A	c.(334-336)aGa>aAa	p.R112K	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	112					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CTTGAGATCTCTCTGACTCTC	0.547000													4	37					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62536422	62536422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:62536422C>T	ENST00000430451.2	+	2	822	c.625C>T	c.(625-627)Cgt>Tgt	p.R209C	SYT16_ENST00000446982.2_Missense_Mutation_p.R209C|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	209								p.R209S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCAGAGTTTCCGTTCAGTGAC	0.483000													7	25					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896785	4896785	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4896785G>A	ENST00000381781.2	-	2	398	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	133					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AAGCTTGTACGAAATAGAAGA	0.458000													7	85					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983489	127983489	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127983489G>A	ENST00000254730.6	+	4	705	c.651G>A	c.(649-651)acG>acA	p.T217T	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	217						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCATCCCAACGAGAGATCCCT	0.562000													10	146					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355319	38355319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38355319C>T	ENST00000273173.4	+	7	1356	c.1265C>T	c.(1264-1266)cCt>cTt	p.P422L	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P422L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	422						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGGAGGTGCCTGCCCGGCTG	0.552000													10	108					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37535634	37535634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:37535634G>A	ENST00000299824.1	+	8	1024	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E237K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	279					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCAGATGGCAGAGCTATTGGT	0.522000													11	182					0	0	1	0	0
TMED3	23423	broad.mit.edu	37	15	79614347	79614347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:79614347G>A	ENST00000299705.5	+	3	633	c.445G>A	c.(445-447)Gag>Aag	p.E149K	TMED3_ENST00000536821.1_Intron|TMED3_ENST00000424155.2_Intron|TMED3_ENST00000558562.1_3'UTR	NM_007364.2	NP_031390.1	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 protein transport domain containing 3	149					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						GACCATCCATGAGGCTCTGAA	0.552000													9	52					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342667	65342667	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:65342667T>C	ENST00000402939.2	-	23	3774	c.3775A>G	c.(3775-3777)Aag>Gag	p.K1259E	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1288					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGCCCGCTTTTCCCCATGT	0.582000													6	111					0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3548160	3548160	+	Silent	SNP	G	G	A	rs143201889		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3548160G>A	ENST00000378322.3	-	11	1168	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	WRAP73_ENST00000270708.7_Silent_p.L370L			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	370						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACAGCTGCTCGAGCACCGCGA	0.647000													4	46					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792924	169792924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169792924C>T	ENST00000263817.6	-	22	2754	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	877	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GACTATCATCCCGATCTGAGA	0.478000													3	25					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832778	35832778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35832778G>A	ENST00000085219.5	+	9	2011	c.1945G>A	c.(1945-1947)Gtg>Atg	p.V649M	CD22_ENST00000270311.6_Missense_Mutation_p.V529M|CD22_ENST00000544992.2_Missense_Mutation_p.V649M|CD22_ENST00000536635.2_Missense_Mutation_p.V561M|CD22_ENST00000341773.6_Missense_Mutation_p.V472M|CD22_ENST00000419549.2_Missense_Mutation_p.V477M|CD22_ENST00000594250.1_Missense_Mutation_p.V472M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	649	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ATTGGAGCCGGTGAAGGTCCA	0.607000													4	54					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349515	58349515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58349515G>A	ENST00000371015.1	+	7	1611	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	PHACTR3_ENST00000355648.4_Missense_Mutation_p.E341K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E271K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E341K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E379K|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E341K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E271K	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	382						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.E382K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTATCAGGACGAGGAGGCGCT	0.498000													16	133					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84027956	84027956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:84027956C>T	ENST00000280241.8	-	1	232	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	DLG2_ENST00000398301.2_Missense_Mutation_p.R78Q|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGGGCTTTTCCGCACACTGTC	0.597000													7	62					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687033	68687033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:68687033G>A	ENST00000361320.4	+	2	937	c.359G>A	c.(358-360)aGa>aAa	p.R120K	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	120						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGTTCCAATAGAATCTCCTAT	0.383000													6	82					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25438473	25438473	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25438473G>A	ENST00000424208.1	+	0	1332				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						GAGTTGGGTCGATGATGAGAA	0.527000													13	206					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3677988	3677988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:3677988G>A	ENST00000382622.3	+	5	988	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.V191M	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	200					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTCAACACGGTGATCTTTGC	0.577000													9	69					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138213864	138213864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138213864G>A	ENST00000264982.3	-	18	2053	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	CEP70_ENST00000542237.1_Missense_Mutation_p.S576L|CEP70_ENST00000489254.1_Missense_Mutation_p.S444L|CEP70_ENST00000484888.1_Missense_Mutation_p.S596L	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	596					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTTCAGTATGAAAGTACTTT	0.264000													13	134					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219413	155219413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155219413C>T	ENST00000357232.3	-	18	4687	c.4688G>A	c.(4687-4689)cGa>cAa	p.R1563Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1563	Cadherin 13.				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)		AGTGGTGCTTCGTGAACCCTG	0.448000													6	21					0	0	1	0	0
CLRN2	645104	broad.mit.edu	37	4	17528535	17528535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:17528535C>T	ENST00000511148.2	+	3	631	c.529C>T	c.(529-531)Cag>Tag	p.Q177*		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	177						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GAAGCTCTTCCAGTTTGTGGT	0.557000													4	53					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847252	94847252	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94847252G>A	ENST00000448921.1	-	5	1445	c.873C>T	c.(871-873)ctC>ctT	p.L291L	SERPINA1_ENST00000449399.3_Silent_p.L291L|SERPINA1_ENST00000404814.4_Silent_p.L291L|SERPINA1_ENST00000355814.4_Silent_p.L291L|SERPINA1_ENST00000402629.1_Silent_p.L291L|SERPINA1_ENST00000393088.4_Silent_p.L291L|SERPINA1_ENST00000437397.1_Silent_p.L291L|SERPINA1_ENST00000440909.1_Silent_p.L291L|SERPINA1_ENST00000393087.4_Silent_p.L291L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	291					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TATCGTGGGTGAGTTCATTTT	0.517000													7	95					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317791	9317791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9317791C>T	ENST00000261336.2	-	19	2459	c.2431G>A	c.(2431-2433)Gga>Aga	p.G811R	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.G680R	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAGACCTCTCCACGAATCACA	0.512000													5	69					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675124	100675124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100675124G>A	ENST00000306151.4	+	3	491	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	143	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTCCTGAAGGCACCGA	0.473000													10	83					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48547050	48547050	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48547050G>A	ENST00000376701.4	+	10	1008	c.931_splice	c.e10-1	p.E311_splice		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	311					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCTCCACAGAGCCACTTCCGC	0.572000			"""Mis, N, F, S"""			lymphoma							4	23					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940456	144940456	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144940456G>A	ENST00000525985.1	-	2	7037	c.6966C>T	c.(6964-6966)ttC>ttT	p.F2322F				P58107	EPIPL_HUMAN	epiplakin 1	2322						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATGGCCTGGAAGAGGGAGA	0.701000													8	267					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65237848	65237848	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65237848C>T	ENST00000389722.3	-	26	5607		c.e26-1		SPTB_ENST00000556626.1_Splice_Site|SPTB_ENST00000542895.1_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000389721.5_Splice_Site	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						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)		ACTGCTGCACCTGTGGTCAGG	0.607000													11	104					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17836764	17836764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17836764C>T	ENST00000324096.4	+	5	722	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F	MAP1S_ENST00000544059.2_Missense_Mutation_p.L165F|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	191	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGCGCTCCGGCTCCAGCTGCG	0.682000													7	18					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610586	8610586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8610586G>A	ENST00000338257.8	-	13	1571	c.1304C>T	c.(1303-1305)cCa>cTa	p.P435L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	435	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTACTGGATTGGAGTCCAGCG	0.577000													20	238					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189855766	189855766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189855766G>A	ENST00000304636.3	+	11	1005	c.835G>A	c.(835-837)Ggt>Agt	p.G279S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G279S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	279	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGTGAAACAGGTGCTCCTGG	0.289000													3	21					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76471438	76471438	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76471438G>A	ENST00000389840.5	-	54	8515	c.8391C>T	c.(8389-8391)tcC>tcT	p.S2797S	DNAH17_ENST00000585328.1_Silent_p.S2806S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGCCAGGCGGGAGAGGCTCT	0.602000													19	86					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144898752	144898752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144898752G>A	ENST00000526683.1	-	12	2173	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	PUF60_ENST00000456095.2_Missense_Mutation_p.R511C|PUF60_ENST00000527197.1_Missense_Mutation_p.R494C|PUF60_ENST00000453551.2_Missense_Mutation_p.R497C|PUF60_ENST00000349157.6_Missense_Mutation_p.R523C|PUF60_ENST00000313352.7_Missense_Mutation_p.R480C	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	540	Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCACCTTGCGGCCAGCAAAC	0.532000													7	145					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161928323	161928323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161928323C>T	ENST00000367942.3	+	16	1959	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	631					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.S631L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATCAAAAGTTCGTCAGTTCCT	0.517000													6	66					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718641	24718641	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24718641C>A	ENST00000206765.6	-	15	2455	c.2332G>T	c.(2332-2334)Gtg>Ttg	p.V778L	TGM1_ENST00000544573.1_Missense_Mutation_p.V336L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	778					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	ACACCGTGCACCTGGGAGAGC	0.612000													5	54					0.00116845	0.00118051	1	1	0
TCF20	6942	broad.mit.edu	37	22	42606538	42606538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42606538G>A	ENST00000359486.3	-	1	4910	c.4774C>T	c.(4774-4776)Cag>Tag	p.Q1592*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.Q1592*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCTCGGCTGGGCCCCAGGC	0.517000													5	103					0	0	1	0	0
KPTN	11133	broad.mit.edu	37	19	47986434	47986434	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47986434G>A	ENST00000338134.3	-	4	540	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	KPTN_ENST00000595484.1_5'UTR|KPTN_ENST00000536339.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	145					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TGGCACAGCTGGAACGGAGTG	0.592000													8	200					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86203648	86203648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:86203648G>A	ENST00000257770.3	+	9	1700	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	NT5E_ENST00000369651.3_Missense_Mutation_p.G501R	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	551					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTTTTCCACAGGAAGTCACTG	0.358000													4	25					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053897	95053897	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95053897C>T	ENST00000329597.7	+	3	408	c.198C>T	c.(196-198)ttC>ttT	p.F66F	SERPINA5_ENST00000554866.1_Silent_p.F66F|SERPINA5_ENST00000554276.1_Silent_p.F66F|SERPINA5_ENST00000553780.1_Silent_p.F66F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	66					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGAGCATCTTCTTCTCCCCTG	0.622000													8	18					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43702350	43702350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43702350C>T	ENST00000405312.3	-	3	745	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.D170N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	170	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTCGCAGGATCACAGGTTAAG	0.542000													21	130					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122567	140122567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:140122567G>A	ENST00000458420.3	+	3	519	c.329G>A	c.(328-330)aGc>aAc	p.S110N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	110	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGTGCCAAGAGCCCCATTGAC	0.562000										HNSCC(16;0.037)			8	99					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197130	8197130	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8197130C>T	ENST00000520004.1	-	4	2442	c.2178G>A	c.(2176-2178)aaG>aaA	p.K726K	SGK223_ENST00000330777.4_Silent_p.K726K			Q86YV5	SG223_HUMAN		726							ATP binding|non-membrane spanning protein tyrosine kinase activity										CAGAGCTGCTCTTGTTCATTT	0.473000													10	55					0	0	1	0	0
SOHLH2	54937	broad.mit.edu	37	13	36748901	36748901	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:36748901C>T	ENST00000379881.3	-	7	835	c.747G>A	c.(745-747)gtG>gtA	p.V249V	SOHLH2_ENST00000554962.1_Silent_p.V326V|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.V326V	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GGATATATTTCACATAATCAA	0.403000													7	24					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985022	21985022	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21985022T>C	ENST00000381418.4	-	3	2413	c.933A>G	c.(931-933)acA>acG	p.T311T	HR_ENST00000312841.8_Silent_p.T311T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	311							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCACCTTGGTGTTGCTGGTG	0.647000													3	28					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807446	66807446	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66807446C>T	ENST00000393946.2	+	7	1555	c.393C>T	c.(391-393)tcC>tcT	p.S131S	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Silent_p.S131S|SYT12_ENST00000525457.1_Silent_p.S131S			Q8IV01	SYT12_HUMAN	synaptotagmin XII	131						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCCGGAAGTCCCAGTCGGCCG	0.607000													7	54					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493519	60493519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60493519G>A	ENST00000450662.2	+	12	1373	c.1302G>A	c.(1300-1302)tgG>tgA	p.W434*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.W382*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	382							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CATGGTCCTGGAATGTTTGCC	0.408000													4	70					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735962	12735962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12735962C>T	ENST00000380682.1	+	16	3523	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1006					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAGACTAAGTCGGTCACTGAC	0.537000													8	46					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481759	27481759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27481759G>A	ENST00000233535.4	-	2	491	c.139C>T	c.(139-141)Cct>Tct	p.P47S	SLC30A3_ENST00000447008.2_Missense_Mutation_p.P42S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	47					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCACAGGTTTGGACTCC	0.637000													21	46					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50241377	50241377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50241377C>T	ENST00000298307.5	+	3	1193	c.332C>T	c.(331-333)tCa>tTa	p.S111L	KLHDC2_ENST00000557247.1_Missense_Mutation_p.S111L|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.S111L	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	111						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GGACACCATTCAAGAGGCAAT	0.393000													20	108					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29630187	29630187	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29630187G>A	ENST00000334018.6	+	11	1216	c.1029_splice	c.e11+1	p.R343_splice	EMID1_ENST00000404820.3_Splice_Site_p.R343_splice|EMID1_ENST00000404755.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	341	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AAGGGCGAGAGAGTGAGTACC	0.627000													3	13					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90428507	90428507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90428507C>T	ENST00000394375.3	+	5	559	c.446C>T	c.(445-447)gCt>gTt	p.A149V	LIPF_ENST00000238983.4_Missense_Mutation_p.A139V|LIPF_ENST00000355843.2_Missense_Mutation_p.A106V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	139					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GAATTCTGGGCTTTCAGGTAA	0.423000													3	22					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227237	7227237	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7227237G>A	ENST00000399464.2	-	12	2172	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	NEURL4_ENST00000315614.7_Silent_p.F719F|NEURL4_ENST00000570460.1_Silent_p.F697F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCTGATGGAAGCGCAGGT	0.612000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	56					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390679	49390679	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49390679G>T	ENST00000421952.2	-	2	2001	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	660	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TTCCAACCTCGGGCAGGGTCC	0.602000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0.115264	0.116093	1	1	0
C1orf158	93190	broad.mit.edu	37	1	12819315	12819315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12819315G>A	ENST00000288048.5	+	3	514	c.298G>A	c.(298-300)Gac>Aac	p.D100N	C1orf158_ENST00000376210.3_Missense_Mutation_p.D62N	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	100										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTATGACGACCATTACAA	0.567000													22	121					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532595	71532595	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71532595G>A	ENST00000265382.3	+	9	1208	c.903G>A	c.(901-903)aaG>aaA	p.K301K	PIP5K1B_ENST00000541509.1_Silent_p.K301K	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	301	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		GGATGCAGAAGGTTCTCTACT	0.502000													11	52					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057117	43057117	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43057117G>A	ENST00000316099.3	+	9	1361	c.1272G>A	c.(1270-1272)agG>agA	p.R424R	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Intron	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	424					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCCGACCCAGGGGACAGGCAG	0.547000													11	191					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23696305	23696305	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23696305G>A	ENST00000546136.1	-	12	1574	c.1572C>T	c.(1570-1572)gtC>gtT	p.V524V	SOX5_ENST00000309359.1_Silent_p.V524V|SOX5_ENST00000396007.2_Silent_p.V151V|SOX5_ENST00000541536.1_Silent_p.V416V|SOX5_ENST00000537393.1_Silent_p.V502V|SOX5_ENST00000545921.1_Silent_p.V527V|SOX5_ENST00000451604.2_Silent_p.V537V|SOX5_ENST00000381381.2_Silent_p.V416V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	537					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGACTCTGAGACTCCAGCAC	0.423000													5	67					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002763	122002763	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122002763C>T	ENST00000498619.1	+	7	2430	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	CASR_ENST00000490131.1_Silent_p.L654L|CASR_ENST00000296154.5_Silent_p.L654L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	654					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTACCTCCTCCTCTTCTCCC	0.592000													6	96					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464218	228464218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228464218G>A	ENST00000570156.2	+	26	7487	c.7413G>A	c.(7411-7413)atG>atA	p.M2471I	OBSCN_ENST00000284548.11_Missense_Mutation_p.M2096I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.M2096I|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.M943I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1462	Ig-like 24.				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)				CGGCTACCATGGAGGTGCAGC	0.706000													8	62					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125479474	125479474	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125479474C>T	ENST00000392708.4	+	10	1266	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	STT3A_ENST00000531491.1_Silent_p.F277F|STT3A_ENST00000529196.1_Silent_p.F369F	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	369					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCCTCGTCTTCATGTTTCCAG	0.438000													5	89					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65667616	65667616	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65667616C>T	ENST00000327987.4	-	2	479	c.228G>A	c.(226-228)agG>agA	p.R76R		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	76	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCCATTCTTCCTCCAGGTGA	0.602000													5	36					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664007	169664007	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169664007C>T	ENST00000483289.2	-	0	3287				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CAGGGCTCATCCTAGTAAGTG	0.502000													5	47					0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16339651	16339651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16339651C>T	ENST00000291439.3	+	9	1408	c.959C>T	c.(958-960)gCc>gTc	p.A320V	AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000444449.2_Missense_Mutation_p.A332V|AP1M1_ENST00000541844.1_Missense_Mutation_p.A248V|AP1M1_ENST00000590756.1_Missense_Mutation_p.A248V	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	320	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCAATGATGCCGACTCACCC	0.602000													4	44					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40063726	40063726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40063726G>A	ENST00000352035.2	-	7	846	c.716C>T	c.(715-717)cCt>cTt	p.P239L	ACLY_ENST00000590151.1_Missense_Mutation_p.P239L|ACLY_ENST00000353196.1_Missense_Mutation_p.P239L|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.P239L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	239					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAAGGGGGGAGGGAACTCGAT	0.577000													6	94					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48414338	48414338	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48414338G>A	ENST00000296438.5	+	2	267	c.81G>A	c.(79-81)caG>caA	p.Q27Q	FBXW12_ENST00000445170.1_Intron|FBXW12_ENST00000436231.1_Intron|FBXW12_ENST00000415155.1_Silent_p.Q27Q	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	27	F-box.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGTTTCCCAGGTGAACAAGG	0.542000													14	75					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31912534	31912534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31912534G>A	ENST00000456570.1	+	13	1529	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.E416K|C2_ENST00000299367.5_Missense_Mutation_p.E645K|C2_ENST00000452323.2_Missense_Mutation_p.E431K|C2_ENST00000469372.1_Missense_Mutation_p.E399K|CFB_ENST00000556679.1_Missense_Mutation_p.E492K|C2_ENST00000442278.2_Missense_Mutation_p.E513K			P00751	CFAB_HUMAN	complement factor B	662	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTCTCCCAAGAAAAAACCAT	0.567000													17	189					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056306	16056306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16056306C>T	ENST00000375799.3	+	14	2317	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S677F	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	697					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTTTGGCTTCTTTGAAGTCA	0.557000													12	43					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494445	20494445	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20494445G>T	ENST00000573854.1	+	13	1689	c.1575G>T	c.(1573-1575)aaG>aaT	p.K525N	ACSM2A_ENST00000575690.1_Missense_Mutation_p.K525N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K446N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K297N|ACSM2A_ENST00000396104.2_Missense_Mutation_p.K525N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.K525N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	525					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCTCACCAAGGAGCTGCAGC	0.498000													5	64					0.000602214	0.000608864	1	1	0
MUC16	94025	broad.mit.edu	37	19	9056230	9056230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9056230C>T	ENST00000397910.4	-	3	31419	c.31216G>A	c.(31216-31218)Gag>Aag	p.E10406K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10408	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCCCAGCTCAACGCTCTCT	0.483000													8	60					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76465412	76465412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:76465412G>A	ENST00000396423.2	+	5	719	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	HNF4G_ENST00000354370.1_Missense_Mutation_p.E162K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	162					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)			TGCCTTCTGTGAATTACCATT	0.323000													3	7					0	0	1	0	0
KLHL3	26249	broad.mit.edu	37	5	136964008	136964008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:136964008C>T	ENST00000508657.1	-	13	2187	c.1473G>A	c.(1471-1473)atG>atA	p.M491I	KLHL3_ENST00000506491.1_Missense_Mutation_p.M441I|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Missense_Mutation_p.M523I	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	523						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		GGCACATGTTCATGTCTGCCA	0.542000													8	104					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807923	50807923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:50807923C>T	ENST00000263046.4	+	7	1188	c.1022C>T	c.(1021-1023)cCc>cTc	p.P341L	TFAP2B_ENST00000393655.3_Missense_Mutation_p.P332L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	332					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P332H(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACGGAGTTTCCCGCCAAAGCC	0.483000													6	142					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798221	38798221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38798221C>T	ENST00000449082.2	-	9	1233	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	412					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCCTTTGCTTCAATTTCATCA	0.507000													7	76					0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2570417	2570417	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2570417G>A	ENST00000397195.5	+	5	775	c.324G>A	c.(322-324)agG>agA	p.R108R		NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	108	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GTGGTCACAGGAGTCCAGTCA	0.428000													6	45					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15842143	15842143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15842143C>T	ENST00000226279.2	+	7	958	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	274					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						ATTCAATTTTCCTGCAAGAAT	0.348000													6	36					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992375	72992375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72992375G>A	ENST00000268489.5	-	2	2342	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	557					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACAACAAAGGAAGAAGCAGA	0.512000													6	62					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120385251	120385251	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120385251C>T	ENST00000602047.1	+	17	1793	c.681C>T	c.(679-681)ttC>ttT	p.F227F	PCDP1_ENST00000413369.3_Silent_p.F513F|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		513						cilium	calmodulin binding					Colorectal(110;0.196)					TCAAATTCTTCCTGAGGCGGA	0.468000													7	95					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201915304	201915304	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201915304C>A	ENST00000367288.4	-	1	411	c.165G>T	c.(163-165)acG>acT	p.T55T		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	55					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTGTTTCTCCGTCTGGTTTC	0.572000													13	75					4.36969e-10	4.44563e-10	1	1	0
OMA1	115209	broad.mit.edu	37	1	58999681	58999681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:58999681G>A	ENST00000371226.3	-	5	1068	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.H319Y	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	319					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.H319D(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAGTTGATGAATATCGGTT	0.338000													11	42					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21609847	21609847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21609847C>T	ENST00000328843.6	+	7	1386	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P452L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	452	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGAGACCATGGGATTTC	0.328000									Kartagener syndrome				4	14					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925290	47925290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47925290G>A	ENST00000289672.2	-	18	3249	c.3199C>T	c.(3199-3201)Ctc>Ttc	p.L1067F		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1067	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTACCAGAGAGGTGAGGGTCA	0.552000													12	91					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114358414	114358414	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:114358414A>G	ENST00000545145.2	-	19	2464		c.e19+1		RBM19_ENST00000392561.3_Splice_Site|RBM19_ENST00000261741.5_Splice_Site	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					tcTTCACTTTACCTGGAGCTG	0.522000													20	269					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31795975	31795975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:31795975G>A	ENST00000382902.1	-	7	1032	c.940C>T	c.(940-942)Cac>Tac	p.H314Y	OTUD7A_ENST00000307050.4_Missense_Mutation_p.H307Y			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	307	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACAAAAACGTGGAACTCTTCC	0.478000													30	79					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181480585	181480585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181480585C>T	ENST00000526775.1	+	3	616	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	CACNA1E_ENST00000358338.5_Missense_Mutation_p.H102Y|CACNA1E_ENST00000367573.2_Missense_Mutation_p.H151Y|CACNA1E_ENST00000357570.5_Missense_Mutation_p.H102Y|CACNA1E_ENST00000360108.3_Missense_Mutation_p.H151Y|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.H151Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	151					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTCATCTTCCATAAGGGCTC	0.478000													16	123					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64719062	64719062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:64719062G>A	ENST00000338957.4	+	3	999	c.932G>A	c.(931-933)tGg>tAg	p.W311*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.W300*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	300							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGCCAGAATGGAAGAAGTTT	0.398000													4	22					0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4906086	4906086	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4906086C>T	ENST00000320785.5	+	8	1026	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	223	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TCTTTACCATCGTCTTCACAC	0.612000													8	125					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16902253	16902253	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:16902253C>T	ENST00000310398.2	-	4	277	c.207G>A	c.(205-207)gaG>gaA	p.E69E	AGR3_ENST00000402239.3_Silent_p.E69E	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	69						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ATTGACAATCCTCCAGGTGAT	0.294000													12	39					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49224837	49224837	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49224837G>A	ENST00000371833.3	-	3	566	c.480C>T	c.(478-480)ttC>ttT	p.F160F	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	160										large_intestine(5)|lung(2)|skin(1)	8						AGGCCTCCACGAAGACCTCTT	0.617000													4	22					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32724849	32724849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32724849C>T	ENST00000421745.2	+	46	8838	c.8704C>T	c.(8704-8706)Cgt>Tgt	p.R2902C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2902					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)					CAATCTTATTCGTCCGGGTGA	0.433000													45	126					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340695	220340695	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220340695G>A	ENST00000358951.2	-	26	3143	c.3027C>T	c.(3025-3027)ctC>ctT	p.L1009L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1009					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GCAAGACATCGAGCTCAAGGC	0.408000													4	26					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628678	172628678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172628678G>A	ENST00000367721.2	+	1	521	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	FASLG_ENST00000340030.3_Missense_Mutation_p.E113K	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	113					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAGCTGGCAGAACTCCGAGA	0.562000													5	25					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599252	50599252	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50599252C>T	ENST00000262794.5	+	25	3543	c.3460C>T	c.(3460-3462)Cga>Tga	p.R1154*	MOV10L1_ENST00000395852.1_Nonsense_Mutation_p.R281*|MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R1134*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R1154*	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1154					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	p.R1154*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTTCTCGTTCGAGTGAGTTT	0.507000													6	71					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55862727	55862727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55862727G>A	ENST00000422046.2	-	2	490	c.209C>T	c.(208-210)cCt>cTt	p.P70L	CES1_ENST00000360526.3_Missense_Mutation_p.P71L|CES1_ENST00000361503.4_Missense_Mutation_p.P70L			P23141	EST1_HUMAN	carboxylesterase 1	70					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TGGTTCTGCAGGCTGCGGTGG	0.527000													6	107					0	0	1	0	0
GBX1	2636	broad.mit.edu	37	7	150846137	150846137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150846137C>T	ENST00000297537.4	-	2	630	c.631G>A	c.(631-633)Ggt>Agt	p.G211S		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	211						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCTGTCACCGCCTGAGCCC	0.612000													19	330					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443912	158443912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:158443912G>A	ENST00000243349.7	-	2	451	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ACVR1C_ENST00000348328.5_Missense_Mutation_p.L31F|ACVR1C_ENST00000409680.3_5'UTR|ACVR1C_ENST00000335450.7_Missense_Mutation_p.L31F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	31					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TCACACAAAAGACATACACAC	0.368000													10	60					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39821178	39821178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39821178C>T	ENST00000502986.2	+	3	432	c.190C>T	c.(190-192)Cct>Tct	p.P64S	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Missense_Mutation_p.P51S|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	51					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CAACAAACTTCCTCAATTGAT	0.383000													3	13					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584396	1584396	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1584396G>A	ENST00000381297.4	-	2	1266	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	352						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCTCTGGAGGCCGGGCC	0.711000			T	CRLF2	"""B-ALL, Downs associated ALL"""								8	139					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234847723	234847723	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234847723C>T	ENST00000324695.4	+	5	470	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	TRPM8_ENST00000409625.1_Silent_p.L67L|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Silent_p.L94L	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	144						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AACACCCAACCTGGTCATTTC	0.567000													6	91					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319674	31319674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:31319674G>A	ENST00000269197.5	+	11	2306	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	769	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCAGCAAAGAAAGTCACCT	0.478000													6	43					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643849	121643849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121643849C>T	ENST00000489711.1	+	13	1481	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R334C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	365					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTCATTTATCGTCTGGTCTC	0.368000													14	81					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31301954	31301954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31301954G>A	ENST00000332585.6	+	13	2610	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	OSBP2_ENST00000382310.3_Missense_Mutation_p.E787K|OSBP2_ENST00000446658.2_Missense_Mutation_p.E835K|OSBP2_ENST00000401475.1_Missense_Mutation_p.E469K|OSBP2_ENST00000407373.1_Missense_Mutation_p.E663K|OSBP2_ENST00000535268.1_Missense_Mutation_p.E380K|OSBP2_ENST00000437268.2_Missense_Mutation_p.E578K|OSBP2_ENST00000403222.3_Missense_Mutation_p.E670K	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	836					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCGTTGGGACGAGGCCAATAC	0.716000													7	18					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743712	17743712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17743712C>T	ENST00000428389.2	-	29	3570	c.3571G>A	c.(3571-3573)Gac>Aac	p.D1191N	UNC13A_ENST00000550896.1_Missense_Mutation_p.D1101N|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1103N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1103N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1103N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1103N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1103	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGATGCTTGTCGTGCTCTGGC	0.537000													6	37					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345969	11345969	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11345969C>T	ENST00000376810.5	+	2	1124	c.798C>T	c.(796-798)ttC>ttT	p.F266F	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	266					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CACTGCTCTTCCTGCCCTACC	0.587000													21	99					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288916	216288916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:216288916G>A	ENST00000354785.4	-	8	1538	c.1169C>T	c.(1168-1170)tCg>tTg	p.S390L	FN1_ENST00000432072.2_Missense_Mutation_p.S390L|FN1_ENST00000421182.1_Missense_Mutation_p.S390L|FN1_ENST00000446046.1_Missense_Mutation_p.S390L|FN1_ENST00000346544.3_Missense_Mutation_p.S390L|FN1_ENST00000345488.5_Missense_Mutation_p.S390L|FN1_ENST00000357867.4_Missense_Mutation_p.S390L|FN1_ENST00000323926.6_Missense_Mutation_p.S390L|FN1_ENST00000336916.4_Missense_Mutation_p.S390L|FN1_ENST00000359671.1_Missense_Mutation_p.S390L|FN1_ENST00000357009.2_Missense_Mutation_p.S390L|FN1_ENST00000356005.4_Missense_Mutation_p.S390L|FN1_ENST00000426059.1_Missense_Mutation_p.S390L|FN1_ENST00000443816.1_Missense_Mutation_p.S390L			P02751	FINC_HUMAN	fibronectin 1	390	Collagen-binding.|Fibronectin type-II 1.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCATAATTCGAAGTTGTGCT	0.512000													13	107					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066531	73066531	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73066531C>T	ENST00000429829.1	-	0	6057					NR_001564.2																						CACTTTCCTTCTCTAGTGCAT	0.483000													3	8					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227422	35227422	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:35227422C>T	ENST00000339480.1	+	2	937	c.567C>T	c.(565-567)ttC>ttT	p.F189F	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	189					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCACCTACTTCATGGTGACCA	0.602000													17	64					0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886309	55886309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:55886309G>A	ENST00000379662.1	+	1	163	c.163G>A	c.(163-165)Gat>Aat	p.D55N	OR6C68_ENST00000548615.1_Missense_Mutation_p.D50N|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CACCATGTTGGATCCCCACCT	0.383000													7	61					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12143138	12143138	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:12143138C>T	ENST00000263035.4	+	10	1916	c.1854C>T	c.(1852-1854)atC>atT	p.I618I		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	618					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACACCTACATCCCCCTGAACC	0.463000													57	174					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66058371	66058371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:66058371C>T	ENST00000349533.6	+	6	711	c.526C>T	c.(526-528)Ccc>Tcc	p.P176S	LEPR_ENST00000371058.1_Missense_Mutation_p.P176S|LEPR_ENST00000371060.3_Missense_Mutation_p.P176S|LEPR_ENST00000371059.3_Missense_Mutation_p.P176S|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.P176S|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	176					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ACCTCTGGTTCCCCAAAAAGG	0.388000													3	7					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588001	113588001	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113588001G>A	ENST00000263341.2	-	7	957	c.747C>T	c.(745-747)ttC>ttT	p.F249F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	249					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCCCTCCCAGGAAGACGGGCA	0.478000													15	110					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148743939	148743939	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:148743939C>T	ENST00000336498.3	+	2	455	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	72	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTATCGGTGATGCTG	0.388000													8	56					0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206772821	206772821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206772821G>A	ENST00000271764.2	-	10	1406	c.1198C>T	c.(1198-1200)Cac>Tac	p.H400Y	EIF2D_ENST00000367114.3_Missense_Mutation_p.H276Y	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	400					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACTCACTTGTGGCCAGACTCC	0.532000													10	67					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623218	33623218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33623218C>T	ENST00000361680.2	+	1	221	c.143C>T	c.(142-144)tCg>tTg	p.S48L	WDR88_ENST00000592765.1_Missense_Mutation_p.S48L|WDR88_ENST00000355868.3_Missense_Mutation_p.S48L			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	48										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTCAAGCTGTCGATCCCGCAC	0.657000													13	110					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32797738	32797738	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32797738G>A	ENST00000374897.2	-	10	1895	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F	TAP2_ENST00000452392.2_Silent_p.F588F|TAP2_ENST00000374899.4_Silent_p.F588F	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	588	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TTTCCTGGATGAAGTCATCTG	0.463000													6	112					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063691	7063691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7063691G>A	ENST00000299481.4	+	4	780	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	145					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TCTTTGGCTGGAAAGCCTGAA	0.393000													4	32					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	103002357	103002357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:103002357G>A	ENST00000262457.2	+	6	816	c.631G>A	c.(631-633)Gag>Aag	p.E211K	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.E211K|INVS_ENST00000541287.1_Missense_Mutation_p.E115K	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	211					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCTCCAACAGAGTCTTTACT	0.413000													6	26					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413501	105413501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105413501G>A	ENST00000333244.5	-	7	8406	c.8287C>T	c.(8287-8289)Ccc>Tcc	p.P2763S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2763						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)			TCCGCCTTGGGGCCTTTCAGG	0.607000													34	157					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40947508	40947508	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40947508C>T	ENST00000372706.1	+	3	1207	c.201C>T	c.(199-201)ctC>ctT	p.L67L	ZFP69_ENST00000372705.3_Silent_p.L67L					ZFP69 zinc finger protein																		CCCCTGGACTCCCGACAGCAG	0.478000													4	60					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266094	100266094	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100266094G>A	ENST00000510055.1	-	0	666				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCAGGGGCGAGGCTGCATCAA	0.517000													5	46					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37879562	37879562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37879562C>T	ENST00000436120.2	+	5	718	c.611C>T	c.(610-612)tCa>tTa	p.S204L	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCCCAAAATTCAGTCATAATT	0.323000													9	35					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274811	51274811	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51274811C>T	ENST00000270590.4	+	1	1091	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	318						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTACGTCTTCGTTGGCAGAG	0.542000													7	111					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114168252	114168252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:114168252G>A	ENST00000393081.1	+	6	812	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	ACSL5_ENST00000479936.1_3'UTR|RP11-324O2.3_ENST00000449782.2_RNA|RP11-324O2.3_ENST00000594870.2_RNA|ACSL5_ENST00000354273.4_Missense_Mutation_p.E169K|ACSL5_ENST00000433418.1_Missense_Mutation_p.E169K|ACSL5_ENST00000356116.1_Missense_Mutation_p.E225K|ACSL5_ENST00000354655.4_Missense_Mutation_p.E169K|RP11-324O2.3_ENST00000598447.1_RNA	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	169					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CTTGGGACCAGAAGCCATCGT	0.393000													4	46					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52876861	52876861	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52876861C>A	ENST00000355083.5	-	7	879	c.734G>T	c.(733-735)cGg>cTg	p.R245L	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.R245L|TMEM110_ENST00000464769.1_5'UTR	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		TGCGGCCCTCCGGTAGCGGAC	0.592000													4	40					0.00024832	0.000251311	1	1	0
OFD1	8481	broad.mit.edu	37	X	13762615	13762615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:13762615C>T	ENST00000380567.1	+	7	946	c.74C>T	c.(73-75)tCg>tTg	p.S25L	OFD1_ENST00000398395.3_Missense_Mutation_p.S165L|OFD1_ENST00000340096.6_Missense_Mutation_p.S165L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.S165L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	165					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	p.S165L(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CAGACAAGTTCGACATTTAAC	0.299000													3	10					0	0	1	0	0
JMJD6	23210	broad.mit.edu	37	17	74719996	74719996	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74719996G>A	ENST00000445478.2	-	3	866	c.663C>T	c.(661-663)acC>acT	p.T221T	JMJD6_ENST00000585429.1_Silent_p.T221T|JMJD6_ENST00000397625.4_Silent_p.T221T	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	221	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTTCGTCTCGGGTCACTTTGA	0.537000													34	97					0	0	1	0	0
TMEM37	140738	broad.mit.edu	37	2	120194767	120194767	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120194767C>T	ENST00000306406.4	+	2	359	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TMEM37_ENST00000409826.1_Silent_p.F120F|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	108						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GCCTGGAGTTCCTCATGGTGT	0.652000													14	140					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923529	13923529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13923529C>T	ENST00000265104.4	-	4	402	c.298G>A	c.(298-300)Ggg>Agg	p.G100R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	100	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGATTTACCCCTCCTAGAGAG	0.408000									Kartagener syndrome				8	15					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756822	139756822	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139756822G>A	ENST00000263549.3	-	3	1467	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	198						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGAAATCATGGGATCTCTTAC	0.448000													15	87					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246129	33246129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33246129C>T	ENST00000404816.2	+	3	1072	c.719C>T	c.(718-720)tCc>tTc	p.S240F	LTBP1_ENST00000354476.3_Missense_Mutation_p.S240F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	240					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGGCTGCTTCCTCGTGGGGC	0.557000													16	50					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128657	150128657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:150128657C>T	ENST00000361875.2	+	1	2536	c.1520C>T	c.(1519-1521)cCa>cTa	p.P507L	TSC22D2_ENST00000361136.2_Missense_Mutation_p.P507L	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	507							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCGGAGTTCCAAACGTGCCT	0.662000													4	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13708294	13708294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13708294C>T	ENST00000265104.4	-	76	13380	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4426					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463000									Kartagener syndrome				6	75					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323007	79323007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:79323007C>T	ENST00000428286.1	-	8	4306	c.3106G>A	c.(3106-3108)Gag>Aag	p.E1036K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1395K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1395					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGGTTCCTCGGTTTGAGGA	0.463000													6	20					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864597	31864597	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31864597G>A	ENST00000396184.3	-	14	1494	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	PDE1C_ENST00000396193.1_Silent_p.F490F|PDE1C_ENST00000396191.1_Silent_p.F430F|PDE1C_ENST00000321453.7_Silent_p.F430F|PDE1C_ENST00000396182.2_Silent_p.F430F	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	430	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGAAATCAATGAAACCTGAAG	0.438000													3	12					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219894839	219894839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219894839G>A	ENST00000341552.5	-	10	1336	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	CCDC108_ENST00000410037.1_Missense_Mutation_p.P353L|CCDC108_ENST00000409865.3_Missense_Mutation_p.P407L|CCDC108_ENST00000453220.1_Missense_Mutation_p.P418L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P418L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	418						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)		CTTCTCTCCCGGAAGCACGAT	0.562000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	63					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671596	49671596	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671596G>A	ENST00000561648.1	-	4	1520	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	ZNF423_ENST00000562871.1_Silent_p.F429F|ZNF423_ENST00000563137.2_Silent_p.F429F|ZNF423_ENST00000562520.1_Silent_p.F429F|ZNF423_ENST00000262383.2_Silent_p.F489F|ZNF423_ENST00000535559.1_Silent_p.F372F|ZNF423_ENST00000567169.1_Silent_p.F372F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	489					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGATGTCGGCGAACATCTCGG	0.557000													10	55					0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410379	100410379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100410379G>A	ENST00000358173.3	-	12	2576	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	EPHB4_ENST00000360620.3_Missense_Mutation_p.S703F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	703	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCGCAGGAAGGAGTCCAGGGC	0.607000													5	40					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74387427	74387427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74387427G>A	ENST00000319380.7	-	18	3540	c.3476C>T	c.(3475-3477)cCc>cTc	p.P1159L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1159							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CACCCCGTTGGGCAGTGCCTG	0.642000													10	39					0	0	1	0	0
PTAFR	5724	broad.mit.edu	37	1	28477077	28477077	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:28477077G>A	ENST00000373857.3	-	2	1090	c.456C>T	c.(454-456)ttC>ttT	p.F152F	PTAFR_ENST00000539896.1_Silent_p.F152F|PTAFR_ENST00000305392.3_Silent_p.F152F	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	152					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATGAGGAAGTAGGATG	0.577000													6	68					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595072	140595072	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140595072C>T	ENST00000341948.4	+	1	1564	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.602000													11	89					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917640	97917640	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97917640C>T	ENST00000534948.1	+	0	2418							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATCTTCTATACTTTCAGGGAA	0.323000													8	61					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367603	142367603	+	Missense_Mutation	SNP	G	G	A	rs150581192		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142367603G>A	ENST00000377741.3	-	2	511	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	141						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ATGCAGGTGAGGAAGAGGATG	0.677000													4	30					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31793022	31793022	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31793022G>A	ENST00000396193.1	-	19	2879	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	PDE1C_ENST00000396191.1_Silent_p.I702I|PDE1C_ENST00000321453.7_Silent_p.I702I	NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	702					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.I702I(1)|p.I762I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGTTATGTGAGATGTTCTGAA	0.473000													8	90					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84067056	84067056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84067056G>A	ENST00000299709.3	-	3	406	c.407C>T	c.(406-408)tCt>tTt	p.S136F		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	136					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGGGTGCCAGACAGGAGGGA	0.682000													5	41					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65216835	65216835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65216835C>T	ENST00000389722.3	-	33	6693	c.6640G>A	c.(6640-6642)Gag>Aag	p.E2214K	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.E2214K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AAGGTTAGCTCACTGTTCCTG	0.537000													11	68					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44945471	44945471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44945471G>A	ENST00000296125.4	+	9	1135	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	356					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CCGCAGGAGCGAAGCCAGGGT	0.627000													7	69					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715384	222715384	+	Missense_Mutation	SNP	G	G	A	rs146335870		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222715384G>A	ENST00000343410.6	-	3	1146	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	363					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCCAAAGGGATCTCCAGC	0.527000													26	427					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838632	43838632	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:43838632G>A	ENST00000319294.6	+	7	991	c.960G>A	c.(958-960)ggG>ggA	p.G320G	UBASH3A_ENST00000398367.1_Silent_p.G282G|UBASH3A_ENST00000291535.6_Silent_p.G282G	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	320	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GGGTGATTGGGATCTCACAGC	0.602000													4	53					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45923453	45923453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45923453G>A	ENST00000311275.7	-	5	717	c.464C>T	c.(463-465)tCc>tTc	p.S155F	ZMYND8_ENST00000355972.4_Missense_Mutation_p.S155F|ZMYND8_ENST00000461685.1_Missense_Mutation_p.S175F|ZMYND8_ENST00000540497.1_Missense_Mutation_p.S150F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.S182F|ZMYND8_ENST00000360911.3_Missense_Mutation_p.S150F|ZMYND8_ENST00000396281.4_Missense_Mutation_p.S155F|ZMYND8_ENST00000458360.2_Missense_Mutation_p.S150F|ZMYND8_ENST00000352431.2_Missense_Mutation_p.S175F|ZMYND8_ENST00000262975.4_Missense_Mutation_p.S155F|ZMYND8_ENST00000471951.2_Missense_Mutation_p.S175F|ZMYND8_ENST00000372023.3_Missense_Mutation_p.S150F|ZMYND8_ENST00000446994.2_Intron			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	155							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGCAGGTAGGATAACTGTTC	0.398000													6	83					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70497632	70497632	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70497632C>T	ENST00000288078.6	+	3	421	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FUK_ENST00000428974.2_Silent_p.A63A|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.A63A	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	63						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)				CCCTCAACGCCCTGCTGGTGG	0.652000													7	21					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051354	38051354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38051354C>T	ENST00000261439.4	+	11	2100	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	TBC1D1_ENST00000508802.1_Missense_Mutation_p.A582V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	582						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GAAGAGCCAGCTCCGCTGTCG	0.622000													4	86					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922057	24922057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922057G>A	ENST00000329468.2	+	1	1517	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.R348L(1)									CTGTGGGATCGAGGTGAGCTT	0.567000													7	32					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956158	18956158	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18956158C>T	ENST00000302797.3	-	1	398	c.174G>A	c.(172-174)agG>agA	p.R58R	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	58					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAGGCGTTCCTGCGCATGC	0.572000													11	167					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393463	164393463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164393463C>T	ENST00000280605.3	-	1	1584	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	475						cytoplasm	metal ion binding|transketolase activity	p.R475Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGCTGGTTCGAATGAAGCA	0.453000													5	95					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493581	102493581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102493581C>T	ENST00000360184.4	+	45	9006	c.8842C>T	c.(8842-8844)Cgt>Tgt	p.R2948C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2948	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACCCTGTCTCGTTTCGTCGC	0.478000													43	174					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061005	35061005	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35061005C>T	ENST00000373913.3	+	3	1365	c.885C>T	c.(883-885)tcC>tcT	p.S295S	DLGAP4_ENST00000373907.2_Silent_p.S295S|DLGAP4_ENST00000401952.2_Silent_p.S295S|DLGAP4_ENST00000339266.5_Silent_p.S295S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	295					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCCTGGTCCACTCTGACCC	0.647000													4	24					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	142987748	142987748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142987748G>A	ENST00000316549.6	-	15	1887	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	560					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AAGCAGCCTGGAAATCGGACC	0.483000													4	72					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905403	905403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:905403G>A	ENST00000579794.1	+	1	294	c.16G>A	c.(16-18)Gga>Aga	p.G6R	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.G6R|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	6					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	p.G6R(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CATGTGTAGCGGAGCGAGGCT	0.617000													5	88					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126227301	126227301	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126227301C>T	ENST00000290868.2	-	4	422	c.369G>A	c.(367-369)gtG>gtA	p.V123V	UROC1_ENST00000383579.3_Silent_p.V123V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	123					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTCCATAGGTCACCAGCTCCT	0.602000													4	21					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460820	66460820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66460820G>A	ENST00000533211.1	-	24	5022	c.4691C>T	c.(4690-4692)gCt>gTt	p.A1564V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1564V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1564V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1564					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTGCAGCTCAGCCAGCTCTGG	0.637000													9	42					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667387	133667387	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:133667387G>A	ENST00000310926.4	-	8	1371	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	SLCO2A1_ENST00000493729.1_Silent_p.F290F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	366					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CACCAATGAGGAAGTTGGCAT	0.622000													9	107					0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48212929	48212929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48212929G>A	ENST00000316878.6	-	11	2385	c.2383C>T	c.(2383-2385)Ctc>Ttc	p.L795F	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	795	Interacts with TGN38 (By similarity).				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						TTGTCCAGGAGCTTGTCCATC	0.637000													4	13					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89391210	89391210	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89391210A>T	ENST00000439576.2	+	9	2047	c.1673A>T	c.(1672-1674)tAt>tTt	p.Y558F	ACAN_ENST00000559004.1_Missense_Mutation_p.Y558F|ACAN_ENST00000558207.1_Missense_Mutation_p.Y558F|ACAN_ENST00000352105.7_Missense_Mutation_p.Y558F|ACAN_ENST00000561243.1_Missense_Mutation_p.Y558F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	558					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTCAGGACCTATGGCGTGCGC	0.567000													14	104					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59494600	59494600	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59494600G>A	ENST00000288235.4	-	16	2022	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	541	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AAGACTTTATGAAAGGCCTGG	0.448000													7	79					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121060540	121060540	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:121060540C>A	ENST00000392793.1	+	23	6589	c.6318C>A	c.(6316-6318)ctC>ctA	p.L2106L	TECTA_ENST00000264037.2_Silent_p.L2106L			O75443	TECTA_HUMAN	tectorin alpha	2106					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATGGGCCTCTCTGCAGCTGTG	0.567000													4	53					1	1	1	1	0
A2ML1	144568	broad.mit.edu	37	12	8998712	8998712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8998712C>T	ENST00000299698.7	+	14	1757	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	A2ML1_ENST00000540049.1_3'UTR|A2ML1_ENST00000539547.1_Missense_Mutation_p.S35L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	370						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACCTTCACTTCGAGACTGGCC	0.478000													6	94					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997973	40997973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40997973C>T	ENST00000253799.3	+	1	1357	c.1330C>T	c.(1330-1332)Cat>Tat	p.H444Y	AOC2_ENST00000452774.2_Missense_Mutation_p.H444Y	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	444					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCAAAATCATTTCTATGG	0.517000													5	59					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527997	6527997	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6527997C>T	ENST00000263125.5	-	9	999	c.900_splice	c.e9+1	p.Q300_splice	PRKCQ_ENST00000397176.2_Splice_Site_p.Q300_splice|PRKCQ_ENST00000539722.1_Splice_Site_p.Q175_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	300					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						ATGCTCCTACCTGTTGAGTGC	0.542000													6	37					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92157894	92157894	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92157894G>A	ENST00000256343.3	-	10	993	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	279					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTCTGCCCTGGAAAACTAGA	0.333000													5	34					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190780	104190780	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104190780G>A	ENST00000392876.3	-	6	685	c.645C>T	c.(643-645)ttC>ttT	p.F215F	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	215							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGTCCATGAACTGCTTCA	0.522000													5	46					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38903606	38903606	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38903606G>A	ENST00000454404.2	-	12	1611	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	RASGRP4_ENST00000587753.1_Silent_p.F431F|RASGRP4_ENST00000587738.1_Silent_p.F500F|RASGRP4_ENST00000586305.1_Silent_p.F486F|RASGRP4_ENST00000433821.2_Silent_p.F408F|RASGRP4_ENST00000426920.2_Silent_p.F311F|RASGRP4_ENST00000293062.9_Silent_p.F403F	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	500	EF-hand.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CATGGCAGGCGAAGGGAAAAT	0.567000													6	74					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134063089	134063089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:134063089G>A	ENST00000338087.5	-	4	952	c.133C>T	c.(133-135)Cga>Tga	p.R45*	SLA_ENST00000427060.2_Nonsense_Mutation_p.R85*|TG_ENST00000377869.1_Intron|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000395352.3_Nonsense_Mutation_p.R62*|SLA_ENST00000517648.1_Nonsense_Mutation_p.R62*|TG_ENST00000542445.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_5'UTR	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	45	SH3.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTCCCCTCGGCGGAATATC	0.507000													10	52					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406977	46406977	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46406977G>A	ENST00000433765.2	-	1	1130	c.1131C>T	c.(1129-1131)ttC>ttT	p.F377F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	377					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CGATGCTGGCGAACTTGCGGG	0.612000													12	121					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	595387	595387	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:595387G>A	ENST00000381578.1	+	3	1003	c.312G>A	c.(310-312)gtG>gtA	p.V104V	SHOX_ENST00000334060.3_Silent_p.V104V|SHOX_ENST00000554971.1_Silent_p.V104V|SHOX_ENST00000381575.1_Silent_p.V104V	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	104					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGAGGACGTGAAGTCGGAGG	0.622000													7	50					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170678	87170678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:87170678G>A	ENST00000265724.3	-	19	2731	c.2314C>T	c.(2314-2316)Ctt>Ttt	p.L772F	ABCB1_ENST00000543898.1_Missense_Mutation_p.L708F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	772	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTACCTGAAGGAAAAATGTA	0.299000													3	14					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582786	51582786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51582786G>A	ENST00000391802.1	-	5	652	c.434C>T	c.(433-435)cCc>cTc	p.P145L	KLK14_ENST00000156499.2_Missense_Mutation_p.P145L	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	145	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GACCTCAATGGGCCTGACTGC	0.647000													4	36					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29693828	29693828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29693828C>T	ENST00000397938.2	+	13	1625	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	EWSR1_ENST00000331029.7_Nonsense_Mutation_p.Q398*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.Q441*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.Q380*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.Q435*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.Q363*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	436	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.Q436*(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAGATTTTCAAGGGAGCAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								13	81					0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14526751	14526751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:14526751G>A	ENST00000530457.1	-	10	1234	c.704C>T	c.(703-705)cCa>cTa	p.P235L	PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.P266L|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.P260L|PSMA1_ENST00000396394.2_Missense_Mutation_p.P260L			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	260					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						ATGTTCCATTGGTTCATCAGC	0.338000													7	109					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114385141	114385141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:114385141G>A	ENST00000545145.2	-	11	1483	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	RBM19_ENST00000392561.3_Nonsense_Mutation_p.Q469*|RBM19_ENST00000261741.5_Nonsense_Mutation_p.Q469*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	469	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGCCTCACCTGGAATACCTGC	0.602000													7	55					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212392	26212392	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:26212392C>T	ENST00000379034.1	+	2	578	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	143	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGATGTCTCCGTTCCTCAGG	0.527000													7	23					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39191045	39191045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39191045C>T	ENST00000344363.5	-	1	62	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	10						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTGGGATATCCACAGAAGCT	0.587000													4	62					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484171	152484171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152484171C>T	ENST00000334269.2	+	2	337	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	54	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGTGGTTCCAGCTCTGGG	0.642000													5	58					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120329	38120329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38120329C>T	ENST00000406386.3	+	7	2021	c.1766C>T	c.(1765-1767)tCt>tTt	p.S589F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGCCTCCTCTCCCAATAGA	0.582000													24	163					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32052304	32052304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32052304G>A	ENST00000375244.3	-	8	3532	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	TNXB_ENST00000375247.2_Missense_Mutation_p.P1111S			P22105	TENX_HUMAN	tenascin XB	1198	Fibronectin type-III 3.				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						GAGCGCTGGGGTCCTTCCACG	0.617000													39	603					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47770613	47770613	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47770613A>G	ENST00000360380.3	-	4	463	c.100T>C	c.(100-102)Tgg>Cgg	p.W34R	STIL_ENST00000337817.5_Missense_Mutation_p.W34R|STIL_ENST00000396221.2_Missense_Mutation_p.W34R|STIL_ENST00000371877.3_Missense_Mutation_p.W34R|STIL_ENST00000243182.6_Missense_Mutation_p.W34R			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	34					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTTGGGTTCCAAAGTGCACAT	0.358000													8	22					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241496659	241496659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241496659G>A	ENST00000401804.1	-	2	232	c.94C>T	c.(94-96)Cct>Tct	p.P32S	ANKMY1_ENST00000406958.1_Missense_Mutation_p.P32S|ANKMY1_ENST00000373318.2_Missense_Mutation_p.P32S|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000361678.4_Missense_Mutation_p.P32S|ANKMY1_ENST00000405523.3_Missense_Mutation_p.P32S|ANKMY1_ENST00000403283.1_Missense_Mutation_p.P111S|ANKMY1_ENST00000272972.3_Intron|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCGGCAGCAGGGGTCTCGCCG	0.682000											OREG0015353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	84					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6679555	6679555	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:6679555G>A	ENST00000518724.1	-	0	793							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		ACCAGCCAGTGGGCACCTGCA	0.622000													3	11					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77984427	77984427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:77984427G>A	ENST00000310924.2	-	3	426	c.311C>T	c.(310-312)cCc>cTc	p.P104L		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	104						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CTTGCGAACGGGGGAGCTCTC	0.701000													7	58					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296662	28296662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:28296662G>A	ENST00000284987.5	-	8	2624	c.2503C>T	c.(2503-2505)Ctt>Ttt	p.L835F	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	835	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCTGTTGCAAGAATCTGCACT	0.453000													4	77					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927965	6927965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6927965G>A	ENST00000293805.5	+	4	739	c.647G>A	c.(646-648)aGa>aAa	p.R216K		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	216						nucleus	zinc ion binding			skin(1)	1						GTCGGGGAGAGAAGTTCTGGT	0.597000													11	75					0	0	1	0	0
APLP2	334	broad.mit.edu	37	11	129999953	129999953	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129999953C>T	ENST00000263574.5	+	11	1548	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	APLP2_ENST00000539648.1_Silent_p.A280A|APLP2_ENST00000528499.1_Silent_p.A436A|APLP2_ENST00000345598.5_Silent_p.A263A|APLP2_ENST00000543137.1_Silent_p.A399A|APLP2_ENST00000278756.7_Silent_p.A502A|APLP2_ENST00000338167.5_Silent_p.A492A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	492					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TTCTCCAGGCCTTACGGCGTT	0.448000													12	68					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234879000	234879000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234879000C>T	ENST00000324695.4	+	17	2325	c.2285C>T	c.(2284-2286)tCg>tTg	p.S762L	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	762						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GATTTCCATTCGGTGCCACAC	0.567000													70	294					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848165	54848165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54848165G>A	ENST00000291759.4	-	6	1258	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	401	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGGGTTGGAGCTGCGTGA	0.597000													17	80					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22332203	22332203	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22332203G>A	ENST00000290122.3	+	4	295	c.276G>A	c.(274-276)gtG>gtA	p.V92V	CELA3A_ENST00000374663.1_Silent_p.V92V	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTGCTGTGAAGGAGGGCC	0.597000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	77					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819226	159819226	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:159819226G>A	ENST00000497452.1	-	0	517																											AGAACTAAAGGATAACTTCAA	0.353000													6	70					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65119203	65119203	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65119203C>T	ENST00000528416.1	+	11	1282	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	DPF2_ENST00000415073.2_Silent_p.S199S|DPF2_ENST00000252268.4_Silent_p.S397S	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	383					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGAAAGCTTCCATCTACCAGA	0.517000													11	89					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337667	12337667	+	Missense_Mutation	SNP	C	C	T	rs12407578	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12337667C>T	ENST00000358136.3	+	19	4152	c.4022C>T	c.(4021-4023)tCg>tTg	p.S1341L	VPS13D_ENST00000356315.4_Missense_Mutation_p.S1341L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1341			S -> L (in dbSNP:rs12407578).		protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAGATGGTATCGCTCTTTGAA	0.438000													4	26					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15355236	15355236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15355236G>A	ENST00000263377.2	-	13	2608	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	796					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGTGGGGGCGAGGACTTCAT	0.711000			T	C15orf55	lethal midline carcinoma of young people								11	27					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156230	111156230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:111156230G>A	ENST00000360467.5	+	44	4481	c.4175G>A	c.(4174-4176)gGa>gAa	p.G1392E	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1392	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGATTGCAGGAATCCCCCAG	0.682000													7	45					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51263087	51263087	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51263087C>T	ENST00000266037.9	+	15	1283	c.1260C>T	c.(1258-1260)atC>atT	p.I420I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	420	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTGATATCCGCAATGACC	0.468000													15	70					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184585044	184585044	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:184585044C>T	ENST00000334690.6	+	2	226	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TRAPPC11_ENST00000357207.4_Silent_p.F8F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	8																	AGTGGGACTTCCCTGTGGAAT	0.403000													4	63					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218947900	218947900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218947900G>A	ENST00000374155.3	+	10	1893	c.1483G>A	c.(1483-1485)Gat>Aat	p.D495N	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.D475N			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	475							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGAGAGGAGGGATGCCATGTA	0.597000													6	67					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891597	115891597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:115891597C>T	ENST00000264363.2	-	4	1888	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	404	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTGCAAATTCCTTGTTGAGA	0.408000													3	11					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811794	91811794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91811794G>A	ENST00000394232.1	+	9	1802	c.1332G>A	c.(1330-1332)atG>atA	p.M444I	SV2B_ENST00000545111.2_Missense_Mutation_p.M293I|SV2B_ENST00000330276.4_Missense_Mutation_p.M444I	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	444					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACTTCACGATGGAAAATCAGA	0.428000													82	250					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744741	140744741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140744741C>T	ENST00000518069.1	+	1	844	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACTCTTTTCGCAATGAAGA	0.453000													4	43					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111547	55111547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55111547G>A	ENST00000314721.2	+	1	921	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGACAATCAGAGATGAAAAA	0.323000													3	2					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234255054	234255054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234255054G>A	ENST00000409110.1	+	15	1338	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	370					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCTAAGGAAAGGTGAGT	0.443000													8	164					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658311	72658311	+	RNA	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72658311C>A	ENST00000425256.1	-	0	1600					NR_002164.1																						gccacgcttactaatttcgac	0.522000													5	48					0.000602214	0.000608864	1	1	0
EPCAM	4072	broad.mit.edu	37	2	47600655	47600655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47600655C>T	ENST00000263735.4	+	2	488	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	EPCAM_ENST00000405271.1_Missense_Mutation_p.R72C	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	44					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GAATAATAATCGTCAATGCCA	0.318000													7	14					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37346335	37346335	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37346335C>T	ENST00000373091.3	-	3	466	c.450G>A	c.(448-450)gtG>gtA	p.V150V	GRIK3_ENST00000373093.4_Silent_p.V150V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	150					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGTAGAGGTTCACGTAGAAGG	0.602000													24	90					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90794104	90794104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90794104G>A	ENST00000561573.1	+	2	506	c.242G>A	c.(241-243)aGa>aAa	p.R81K	TTLL13_ENST00000438251.1_Missense_Mutation_p.R81K|TTLL13_ENST00000339615.5_Missense_Mutation_p.R81K																							AGGAGGAAGAGAAGGCGGAAA	0.522000													28	95					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215278924	215278924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:215278924C>T	ENST00000312504.5	+	2	809	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.L3F|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	3						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGGATGGCTCTTCATATTCA	0.433000													8	28					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42485724	42485724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42485724G>A	ENST00000545399.1	-	11	1559	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	ATP1A3_ENST00000302102.5_Missense_Mutation_p.S456F|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S426F|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S467F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	456					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CAGCTTCACGGAGCCAGAGGA	0.552000													9	44					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921556	12921556	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12921556G>A	ENST00000240189.2	+	4	1434	c.1347G>A	c.(1345-1347)agG>agA	p.R449R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	449										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCAAGAGGATCTTCATTG	0.557000													13	132					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069981	9069981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9069981G>A	ENST00000397910.4	-	3	17668	c.17465C>T	c.(17464-17466)tCc>tTc	p.S5822F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5824	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTCTGCTGGAAGTGATAAC	0.478000													5	33					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209801435	209801435	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209801435G>A	ENST00000391911.1	-	10	1622	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	LAMB3_ENST00000367030.3_Silent_p.D411D|LAMB3_ENST00000356082.4_Silent_p.D411D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	411	Laminin EGF-like 3.				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)		GCTTGCATAGGTCACAGCGCT	0.657000											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531011	92531011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92531011G>A	ENST00000298047.6	+	9	4849	c.4832G>A	c.(4831-4833)gGg>gAg	p.G1611E	FAT3_ENST00000409404.2_Missense_Mutation_p.G1611E|FAT3_ENST00000525166.1_Missense_Mutation_p.G1461E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1611	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAACACTGGGAACATGTTT	0.398000										TCGA Ovarian(4;0.039)			8	52					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148919985	148919985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148919985C>T	ENST00000264613.6	-	7	1514	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	418	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTATAAGAGCCTCCAATTCTT	0.453000													4	58					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639686	9639686	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9639686G>A	ENST00000593003.1	-	6	1398	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ZNF426_ENST00000535489.1_Silent_p.F345F|ZNF426_ENST00000253115.2_Silent_p.F345F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGTACTGAGTGAAGGCTTTCC	0.443000													4	36					0	0	1	0	0
ZNF502	91392	broad.mit.edu	37	3	44763174	44763174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:44763174C>T	ENST00000296091.4	+	4	1121	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H289Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H289Y	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCAGAGAATTCACACTGGTGA	0.403000													9	158					0	0	1	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001361	27001361	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27001361C>T	ENST00000344420.5	+	6	1160	c.1098C>T	c.(1096-1098)ccC>ccT	p.P366P	SLC35F6_ENST00000416475.2_Silent_p.P283P|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		CCCGCACTCCCATCAATGATG	0.667000													10	21					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408109	30408109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30408109G>A	ENST00000375994.2	+	2	506	c.233G>A	c.(232-234)gGa>gAa	p.G78E	MYLK2_ENST00000375985.4_Missense_Mutation_p.G78E			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	78					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCCCCAAAGGAGAGGGTGAC	0.672000													4	42					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089741	9089741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089741C>T	ENST00000397910.4	-	1	2277	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	692	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTCCTTCCCTGAAAGCT	0.507000													12	37					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102323171	102323171	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102323171C>T	ENST00000422945.2	+	4	432	c.336C>T	c.(334-336)acC>acT	p.T112T	PPP2R5C_ENST00000350249.3_Silent_p.T81T|PPP2R5C_ENST00000334743.5_Silent_p.T81T|PPP2R5C_ENST00000328724.5_Silent_p.T136T|PPP2R5C_ENST00000557095.1_Silent_p.T81T|PPP2R5C_ENST00000445439.3_Silent_p.T81T	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	81					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AATATATCACCCATAATCGGA	0.388000													4	61					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160312	61160312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61160312C>T	ENST00000382771.4	+	5	843	c.551C>T	c.(550-552)cCt>cTt	p.P184L	SERPINB5_ENST00000489441.1_Missense_Mutation_p.P184L|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	184					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGAATGTCCTTTCAGAGTC	0.408000													5	52					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387202	10387202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10387202G>A	ENST00000328655.3	+	2	380	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PRSS55_ENST00000522210.1_Missense_Mutation_p.E114K|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	114	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATATTCCGAGGAGCTGTTGTA	0.592000													23	187					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3430027	3430027	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:3430027C>T	ENST00000529482.1	+	0	2156																											GACTGTGCTCCCTTTGGTTAT	0.557000													4	29					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115874	8115874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:8115874C>T	ENST00000379328.3	+	6	1791	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	GATA3_ENST00000346208.3_Missense_Mutation_p.S407L|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	407					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P409fs*>37(5)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGC	0.602000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						9	72					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168357	67168357	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67168357C>T	ENST00000219139.3	+	8	836	c.648C>T	c.(646-648)cgC>cgT	p.R216R	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.R216R	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	216										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TACGACTTCGCCTACTTGCTG	0.502000													15	133					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240260	171240260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171240260C>T	ENST00000334231.6	+	12	1253	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.P409L|MYO3B_ENST00000409044.3_Missense_Mutation_p.P409L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	409	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						GCCTCCAATCCCCCCCACATA	0.463000													4	15					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89156960	89156960	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89156960C>T	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TTGTGTTTCTCGTAGTCTGCT	0.572000													4	35					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810649	140810649	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:140810649C>T	ENST00000509479.2	-	2	2797	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q	MAML3_ENST00000327122.5_Silent_p.Q491Q|MAML3_ENST00000398940.1_Silent_p.Q175Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	643	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.577000													5	47					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582578	120582578	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120582578G>A	ENST00000300648.6	-	41	5229	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1739					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTAGCCACGATTTCTGGCA	0.507000													15	167					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039388	248039388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248039388G>A	ENST00000366481.3	+	6	1106	c.1058G>A	c.(1057-1059)gGa>gAa	p.G353E	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	353	B30.2/SPRY.					intracellular	zinc ion binding	p.G353E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTTCTGGTGGGAGAAGGAGCA	0.572000													5	41					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561300	219561300	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219561300C>T	ENST00000295709.3	+	22	2841	c.2562C>T	c.(2560-2562)atC>atT	p.I854I	STK36_ENST00000440309.1_Silent_p.I854I|STK36_ENST00000392105.3_Intron|STK36_ENST00000392106.2_Intron	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	854					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTCCTTATCCTTCTGTTGC	0.507000													6	121					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779221	36779221	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779221C>T	ENST00000416516.2	-	2	1420	c.930G>A	c.(928-930)agG>agA	p.R310R		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	310						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAGAGTCATCCTTCTGCCTC	0.572000													9	141					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996533	10996533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10996533C>T	ENST00000324288.8	+	8	780	c.647C>T	c.(646-648)tCg>tTg	p.S216L	CIITA_ENST00000381835.5_Missense_Mutation_p.S167L|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	216					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCCAGTTCCTCGTTGAGCTGC	0.522000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	49					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020092	9020092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9020092C>T	ENST00000397910.4	-	21	37606	c.37403G>A	c.(37402-37404)aGc>aAc	p.S12468N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12470	SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCCAGGGCTTTTGGGGTC	0.542000													16	58					0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818754	32818754	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32818754G>A	ENST00000354258.4	-	4	1358	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	TAP1_ENST00000425148.2_Silent_p.F138F|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	399	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TGGGCAGAAGGAAAAGCAGAG	0.547000													8	69					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34656262	34656262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34656262G>A	ENST00000314891.6	-	5	781	c.604C>T	c.(604-606)Cct>Tct	p.P202S		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	202					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTGCCCTCAGGAAAGAATAGC	0.458000													9	124					0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31691921	31691921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31691921G>A	ENST00000360542.3	-	1	686	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	145						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAGAATTGGGGGCGATAGGCA	0.552000													5	42					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80919828	80919828	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:80919828C>T	ENST00000376588.3	+	4	437	c.369C>T	c.(367-369)atC>atT	p.I123I	PSAT1_ENST00000347159.2_Silent_p.I123I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	123					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTATAAATATCGTTCACCCTA	0.502000													6	35					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27499923	27499923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27499923G>A	ENST00000396271.3	-	9	1150	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	ACBD5_ENST00000375901.1_Missense_Mutation_p.R233C|ACBD5_ENST00000375888.1_Missense_Mutation_p.R351C|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.R165C|ACBD5_ENST00000375905.4_Missense_Mutation_p.R307C	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	351					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.R307C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATATCTTCACGAAATCCAGAA	0.418000													20	88					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684421	100684421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100684421C>T	ENST00000306151.4	+	3	9788	c.9724C>T	c.(9724-9726)Ctt>Ttt	p.L3242F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3242	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCTAGCATCCTTTCAACAAC	0.502000													26	165					0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120005733	120005733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120005733C>T	ENST00000354888.5	+	4	1475	c.971C>T	c.(970-972)cCg>cTg	p.P324L	STEAP3_ENST00000425223.2_Missense_Mutation_p.P324L|STEAP3_ENST00000393108.2_Missense_Mutation_p.P324L|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393110.2_Missense_Mutation_p.P334L|STEAP3_ENST00000393106.2_Missense_Mutation_p.P324L|STEAP3_ENST00000450943.2_Missense_Mutation_p.P324L|STEAP3_ENST00000393107.2_Missense_Mutation_p.P324L|STEAP3_ENST00000409811.1_Missense_Mutation_p.P324L	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	324	Ferric oxidoreductase.				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TTCTGCTTGCCGCTGCGCCGC	0.647000													7	42					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786522	121786522	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:121786522G>A	ENST00000261367.7	+	12	3549	c.2121G>A	c.(2119-2121)agG>agA	p.R707R	CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Silent_p.R600R|SNCAIP_ENST00000542191.1_Silent_p.R218R|SNCAIP_ENST00000414317.2_Silent_p.R262R|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Silent_p.R707R|SNCAIP_ENST00000261368.8_Silent_p.R660R|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.R294R|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	660					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGAGAAGAGGGAACTGAAGT	0.483000													4	21					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798936	38798936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38798936G>A	ENST00000308979.2	-	4	1790	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L	TLR1_ENST00000502213.2_Missense_Mutation_p.S506L	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	506					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GAAATCAGCCGATGGGTGGGA	0.418000													10	69					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696053	150696053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150696053G>A	ENST00000297494.3	+	8	1193	c.836G>A	c.(835-837)tGg>tAg	p.W279*	NOS3_ENST00000467517.1_Nonsense_Mutation_p.W279*|NOS3_ENST00000461406.1_Nonsense_Mutation_p.W73*|NOS3_ENST00000484524.1_Nonsense_Mutation_p.W279*	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	279	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGCACGGCTGGACCCCAGGA	0.657000													7	41					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914805	94914805	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94914805G>A	ENST00000334708.3	-	2	371	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	103					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TTGAATCCCAGGCCCTCCAGG	0.602000													9	41					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090502	49090502	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49090502C>T	ENST00000323090.4	+	2	561	c.186C>T	c.(184-186)atC>atT	p.I62I	SULT2B1_ENST00000201586.2_Silent_p.I77I	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCTGGATGATCGAGATCATCT	0.527000													7	40					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143392	160143392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160143392C>T	ENST00000368081.4	+	13	2347	c.1876C>T	c.(1876-1878)Cat>Tat	p.H626Y	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	626					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACAGGAGATCATCCCATTAC	0.522000													9	93					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265376	75265376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:75265376C>T	ENST00000325680.7	+	5	3500	c.3376C>T	c.(3376-3378)Cga>Tga	p.R1126*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R931*|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	931	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGGACCTCTTCGAAGGGCTGG	0.637000													4	25					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791313	51791313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51791313G>A	ENST00000251076.5	-	18	4395	c.4108C>T	c.(4108-4110)Cat>Tat	p.H1370Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H1370Y|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1370						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTTACTAAATGAGAGAGAATG	0.413000													16	53					0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66446943	66446943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66446943G>A	ENST00000262139.5	-	3	258	c.259C>T	c.(259-261)Cac>Tac	p.H87Y	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.H5Y	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	87					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTCTTGAAGTGATACACGTTC	0.507000													9	139					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56699001	56699001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:56699001C>T	ENST00000260129.5	+	4	1021	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	182					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GACAGAAAATCCTCCAGTTGA	0.368000													3	16					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441490	1441490	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1441490G>A	ENST00000270349.9	-	3	529	c.402C>T	c.(400-402)atC>atT	p.I134I	SLC6A3_ENST00000453492.2_Silent_p.I134I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	134					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GTATGGGGCAGATCTTCCAGA	0.582000													11	74					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25670559	25670559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:25670559G>A	ENST00000281589.3	+	1	260	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	75	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CATGAATTTTGATGTTATAAA	0.478000													5	32					0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2689108	2689108	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:2689108C>A	ENST00000274643.7	-	4	660	c.318G>T	c.(316-318)gtG>gtT	p.V106V	MYLK4_ENST00000268446.5_Silent_p.V106V	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	106	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CTGTCTTGCTCACAGTATAGA	0.468000													6	229					1	1	1	1	0
CATSPERB	79820	broad.mit.edu	37	14	92105548	92105548	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92105548G>A	ENST00000256343.3	-	16	1635	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	493					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTATAATGTGAAAATTCTCT	0.398000													3	14					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75013627	75013627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75013627G>A	ENST00000379727.3	-	5	1277	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F	CYP1A1_ENST00000395049.4_Missense_Mutation_p.S360F|CYP1A1_ENST00000564596.1_Missense_Mutation_p.S99F|CYP1A1_ENST00000395048.2_Missense_Mutation_p.S360F|CYP1A1_ENST00000567032.1_Missense_Mutation_p.S360F			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	360					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGATCTGTCAGAGAGCCGGGG	0.607000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				5	78					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931916	46931916	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:46931916G>A	ENST00000262738.3	-	1	1151	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	CELSR1_ENST00000395964.1_Silent_p.I384I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	384	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTTGGCGTTGATGGGCGAGT	0.682000													6	22					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564927	46564927	+	Missense_Mutation	SNP	G	G	A	rs139294318	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46564927G>A	ENST00000458649.2	-	7	1058	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	AMBRA1_ENST00000528950.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P214S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P214S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P214S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	214					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCATCTATGGGGATCTCTGGT	0.527000													7	64					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7810924	7810924	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7810924C>T	ENST00000315599.7	-	4	250	c.228G>A	c.(226-228)gcG>gcA	p.A76A	CD209_ENST00000601256.1_Silent_p.A52A|CD209_ENST00000315591.8_Silent_p.A52A|CD209_ENST00000354397.6_Silent_p.A76A|CD209_ENST00000301357.8_Silent_p.A32A|CD209_ENST00000601951.1_Silent_p.A52A|CD209_ENST00000204801.8_Silent_p.A32A|CD209_ENST00000593821.1_Silent_p.A32A|CD209_ENST00000602261.1_Silent_p.A76A|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.A52A|CD209_ENST00000394173.4_Silent_p.A76A	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTGGTAGATCGCGTCTTGCC	0.512000													11	149					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133499043	133499043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:133499043C>T	ENST00000319725.9	+	11	995	c.920C>T	c.(919-921)cCg>cTg	p.P307L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	307	KH 3.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		ATGGGCCCTCCGGATCGGTGT	0.537000													8	66					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142403006	142403006	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142403006G>A	ENST00000337777.3	+	7	951	c.738G>A	c.(736-738)agG>agA	p.R246R	PLS1_ENST00000457734.2_Silent_p.R246R|PLS1_ENST00000497002.1_Silent_p.R246R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	246	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AGATTTCCAGGAATGAAGGTA	0.398000													5	67					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210073	35210073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35210073G>A	ENST00000274938.7	+	13	1510	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.E520K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	504					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAAAACAGAGGAGGCTGGCAG	0.547000													4	75					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113111523	113111523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113111523C>T	ENST00000401611.2	+	16	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	NCAM1_ENST00000533760.1_Intron|NCAM1_ENST00000316851.7_Intron|NCAM1_ENST00000397957.4_Intron			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	712	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.S618L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCTAGCTCGTCTACCCCT	0.433000													10	147					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477611	25477611	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25477611G>A	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						ATTACGCTGAGGCCCAGCCTA	0.517000													20	213					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362472	9362472	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9362472G>A	ENST00000456448.1	+	1	867	c.753G>A	c.(751-753)ggG>ggA	p.G251G		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCAGATGGGAAGTATAAAG	0.443000													3	8					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38950129	38950129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38950129G>A	ENST00000359357.3	+	84	12445	c.12191G>A	c.(12190-12192)cGa>cAa	p.R4064Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4028Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGGAGCGACGAAAATTTGGC	0.343000													7	42					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20439148	20439148	+	Silent	SNP	C	C	T	rs12921787	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20439148C>T	ENST00000331849.4	+	7	1107	c.960C>T	c.(958-960)gtC>gtT	p.V320V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	320					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCTGCTGTGTCCCAACCATCT	0.473000													8	117					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097337	220097337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220097337C>T	ENST00000323348.5	+	5	664	c.490C>T	c.(490-492)Cga>Tga	p.R164*	ANKZF1_ENST00000409849.1_5'UTR|ANKZF1_ENST00000410034.3_Nonsense_Mutation_p.R164*	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	164						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)		TTACCCTCATCGAGTTCTTTT	0.537000													9	85					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61957840	61957840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61957840G>A	ENST00000332800.7	-	4	881	c.748C>T	c.(748-750)Caa>Taa	p.Q250*	GH2_ENST00000449787.2_Silent_p.F150F|GH2_ENST00000423893.2_Silent_p.F165F|GH2_ENST00000456543.2_Missense_Mutation_p.S164L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGACTGATTGAAGATCTGCC	0.542000													7	81					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328275	243328275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:243328275G>A	ENST00000366542.1	-	13	3038	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	CEP170_ENST00000366543.1_Missense_Mutation_p.S898F|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.S898F|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	996	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACATCTGTGGAACGACTTTT	0.403000													4	48					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716744	40716744	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40716744C>T	ENST00000393818.2	+	4	1521	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	COASY_ENST00000421097.2_Silent_p.P355P|COASY_ENST00000449624.1_Silent_p.P60P|COASY_ENST00000590958.1_Silent_p.P384P|COASY_ENST00000420359.1_Silent_p.P355P	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	355	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGAGCTCCCCACATGTCTCT	0.577000													20	120					0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941231	111941231	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:111941231G>A	ENST00000530641.1	-	5	1067	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	PIH1D2_ENST00000431456.1_Silent_p.L248L|PIH1D2_ENST00000532211.1_Silent_p.L248L|PIH1D2_ENST00000528775.1_Silent_p.L248L|PIH1D2_ENST00000280350.4_Silent_p.L248L			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	248										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TCAATTTTCAGAGGTTTCTCA	0.368000													4	67					0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342352	122342352	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:122342352G>C	ENST00000434824.1	-	1	669	c.453C>G	c.(451-453)gtC>gtG	p.V151V	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Silent_p.V53V|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	151	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCATCACCGCGACTATATTTT	0.463000													6	44					0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678772	38678772	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:38678772C>T	ENST00000267377.2	+	3	795	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	60					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CAGCGCCATCCTGATCTCTTT	0.642000													6	40					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73554278	73554278	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73554278G>A	ENST00000392550.3	+	4	333	c.216G>A	c.(214-216)gaG>gaA	p.E72E	LLGL2_ENST00000167462.5_Silent_p.E72E|LLGL2_ENST00000578363.1_Silent_p.E72E|LLGL2_ENST00000577200.1_Silent_p.E72E|LLGL2_ENST00000375227.4_Silent_p.E72E	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	72					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGCACCAGGAGAACAACGCTG	0.627000													13	131					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47493861	47493861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:47493861G>A	ENST00000395290.2	-	12	1388	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	CELF1_ENST00000395292.2_Missense_Mutation_p.S458F|CELF1_ENST00000358597.3_Missense_Mutation_p.S461F|CELF1_ENST00000310513.5_Missense_Mutation_p.S457F|CELF1_ENST00000361904.3_Missense_Mutation_p.S458F|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000532048.1_Missense_Mutation_p.S487F|CELF1_ENST00000531165.1_Missense_Mutation_p.S489F	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	461	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GCCGTTCATGGACTGGATGGC	0.502000													6	119					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51952473	51952473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:51952473G>A	ENST00000311234.4	-	12	1976	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	INTS6_ENST00000490542.1_Nonsense_Mutation_p.Q186*|INTS6_ENST00000425000.1_Nonsense_Mutation_p.Q70*|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Nonsense_Mutation_p.Q324*|INTS6_ENST00000398119.2_Nonsense_Mutation_p.Q489*	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	502					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGGAGTTGTTGAAAATCTTTC	0.423000													7	42					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496295	110496295	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:110496295G>A	ENST00000324068.1	-	4	614	c.447C>T	c.(445-447)ttC>ttT	p.F149F	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	149	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGGAGAAAGAGAAGACCAGAT	0.428000													9	12					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368106	18368106	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18368106C>A	ENST00000392413.3	-	4	4203	c.3988G>T	c.(3988-3990)Gtt>Ttt	p.V1330F	KIAA1683_ENST00000600328.2_Missense_Mutation_p.V1143F|KIAA1683_ENST00000600359.2_Missense_Mutation_p.V1097F	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	133						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGGCTTGAACTATCTTCGCT	0.622000													10	53					0.000978159	0.00098854	1	1	0
GAS2L2	246176	broad.mit.edu	37	17	34073134	34073134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34073134G>A	ENST00000254466.6	-	6	1409	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S445F	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	461					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGGCCAAAGGAACGAGGCAG	0.627000													11	110					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5047612	5047612	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5047612C>T	ENST00000159111.4	+	6	776	c.558C>T	c.(556-558)ttC>ttT	p.F186F	KDM4B_ENST00000381759.4_Silent_p.F186F|KDM4B_ENST00000536461.1_Silent_p.F186F|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	186	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGACCACCTTCGCCTGGCACA	0.627000													15	60					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74808960	74808960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74808960C>T	ENST00000290536.5	-	5	726	c.610G>A	c.(610-612)Gga>Aga	p.G204R	M1AP_ENST00000409585.1_Missense_Mutation_p.G204R|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G204R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ATGTCAGTTCCCAGAATAGAA	0.338000													10	42					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655783	12655783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:12655783C>T	ENST00000425538.1	+	10	1378	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	MYOCD_ENST00000343344.4_Missense_Mutation_p.T393I|MYOCD_ENST00000395988.1_Missense_Mutation_p.T297I	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	393	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGTCAGGCACCAAAACGGCT	0.478000													5	45					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087659	57087659	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57087659G>A	ENST00000532437.1	-	2	933	c.622C>T	c.(622-624)Ccc>Tcc	p.P208S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P208S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	208	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCATCCCTGGGAGCAGTGGTC	0.637000													5	76					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901748	51901748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:51901748G>A	ENST00000268919.4	+	1	1510	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	452	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGGGAATGAAAGAGGAGC	0.488000													4	27					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746715	196746715	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:196746715C>T	ENST00000312428.6	-	36	5865	c.5763_splice	c.e36-1	p.G1922_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1922					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTCCTATTCCCTGTTTATA	0.338000													5	24					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3900705	3900705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3900705G>A	ENST00000262367.5	-	2	1200	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	CREBBP_ENST00000382070.3_Missense_Mutation_p.P131S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	131					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)		GGCAGGCTGGGGGCTGAAGAA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	91					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51012139	51012139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51012139G>A	ENST00000261854.5	-	14	1760	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	496						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GCACATACCTGATAGCTGTTA	0.393000													11	36					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555359	148555359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:148555359C>T	ENST00000296582.3	+	10	1665	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	364						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AAATTGTTTCCCGAGGATCAA	0.358000													3	16					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390871	197390871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:197390871C>T	ENST00000367397.1	+	2	914	c.56C>T	c.(55-57)tCg>tTg	p.S19L	CRB1_ENST00000367399.2_Missense_Mutation_p.S526L|CRB1_ENST00000535699.1_Missense_Mutation_p.S569L|CRB1_ENST00000538660.1_Missense_Mutation_p.S638L|CRB1_ENST00000367400.3_Missense_Mutation_p.S638L|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.S119L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	638					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCCACACCTTCGTTTGTAGGC	0.428000													4	63					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148614417	148614417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:148614417C>T	ENST00000296046.3	+	11	1229	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	393					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCCAGAATCCCGGATAAAGCC	0.433000													4	41					0	0	1	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864180	31864180	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31864180G>A	ENST00000334063.4	-	1	95	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	32						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						CCAGTCTGCGGAAGCTGCCAC	0.577000													11	137					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88819996	88819996	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88819996G>A	ENST00000277865.4	-	9	1296	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	GLUD1_ENST00000537649.1_Silent_p.I233I|GLUD1_ENST00000544149.1_Silent_p.I267I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	400					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCAGCAATGATCTGCAAGA	0.453000													7	107					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788178	80788178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80788178C>T	ENST00000269394.3	-	3	2845	c.2012G>A	c.(2011-2013)aGc>aAc	p.S671N	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.S272N	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	671						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTCCATGGAGCTCAGTGTGGG	0.607000													5	112					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73687968	73687968	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:73687968G>A	ENST00000310473.3	-	5	1274	c.432C>T	c.(430-432)ttC>ttT	p.F144F	UCP2_ENST00000536983.1_Silent_p.F144F	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	144					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CCTGAGCTTGGAATCGGACCT	0.627000													8	114					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123775763	123775763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123775763C>T	ENST00000422452.2	-	11	2018	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	TENM1_ENST00000371130.3_Missense_Mutation_p.G652E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACAGTTAACTCCTCCCCAGCC	0.498000													15	98					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19329750	19329750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19329750G>A	ENST00000252575.5	+	3	143	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	34					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGATGCCAGCGAAAGGGGGCT	0.607000													7	29					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138633334	138633334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:138633334G>A	ENST00000218099.2	+	6	641	c.634G>A	c.(634-636)Gat>Aat	p.D212N	F9_ENST00000394090.2_Missense_Mutation_p.D174N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	212					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AACCATTTTGGATAACATCAC	0.418000													6	22					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409006	17409006	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17409006G>A	ENST00000339994.4	-	1	1200	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNJ11_ENST00000528731.1_Silent_p.I124I	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	124						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGTGGCGCTGATGATCATGC	0.637000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	441					0	0	1	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206570	142206570	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142206570G>A	ENST00000426318.2	-	0	335																											ACTCCAGAGTGAGGGGGAAAT	0.527000													16	61					0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21703848	21703848	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21703848G>A	ENST00000540918.2	+	4	566	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	TTC39C_ENST00000317571.3_Missense_Mutation_p.E413K|TTC39C_ENST00000304621.6_Missense_Mutation_p.E352K			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	413							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TGTCTTTAAAGAAGTTCAGAA	0.383000													3	17					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19410591	19410591	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:19410591C>T	ENST00000338883.4	-	17	2194	c.2194_splice	c.e17-1	p.G732_splice	MAP3K15_ENST00000359173.3_Splice_Site_p.G167_splice|MAP3K15_ENST00000469203.2_Splice_Site_p.G564_splice|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	732	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGAAAGGCTTCCTAGAGACAG	0.423000													9	33					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237320	26237320	+	RNA	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26237320G>C	ENST00000519902.1	-	0	2628																											CTTAAAACTCGACTGGTGCTG	0.463000													6	34					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171843	106171843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:106171843G>A	ENST00000541806.1	+	2	904	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G129S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G129S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	129					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CATCCTTGGAGGCCTCCTGGG	0.512000													26	52					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95861734	95861734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:95861734G>A	ENST00000376887.4	-	6	853	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.L247F|ABCC4_ENST00000536256.1_Missense_Mutation_p.L172F|ABCC4_ENST00000431522.1_Missense_Mutation_p.L247F	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	247	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AAGGGCAGGAGAATGATTAGA	0.468000													5	35					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730366	37730366	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37730366G>A	ENST00000330843.4	-	4	1966	c.1954C>T	c.(1954-1956)Ctg>Ttg	p.L652L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	652					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGTGATCCCAGGGCAGAAGAA	0.512000													12	101					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48883137	48883137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48883137C>T	ENST00000262105.2	+	11	1710	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MCM4_ENST00000523944.1_Missense_Mutation_p.R501W|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	501	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCAAATTTCGGGCTGAGAT	0.498000													4	62					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899725	233899725	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899725C>T	ENST00000233840.3	+	2	1101	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	367							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TTCTCATGTTCACCCTGAAGC	0.582000													12	184					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41749591	41749591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41749591C>T	ENST00000301178.4	+	12	1706	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	AXL_ENST00000593513.1_Missense_Mutation_p.R238C|AXL_ENST00000359092.3_Missense_Mutation_p.R497C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	506						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCCTACAGTCGTCGGACCAC	0.562000													8	104					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817643	43817643	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43817643C>T	ENST00000382031.1	+	5	4717	c.4686C>T	c.(4684-4686)tcC>tcT	p.S1562S	MAP1A_ENST00000399453.1_Silent_p.S1324S|MAP1A_ENST00000300231.5_Silent_p.S1324S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1324						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCCTTCTCCAAGAGTCCTG	0.488000													6	45					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679021	37679021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:37679021C>T	ENST00000379800.3	-	1	782	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	125	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TGCACGTATTCAATTCTGCTG	0.408000													5	46					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85617227	85617227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:85617227G>A	ENST00000322366.6	-	57	9153	c.8746C>T	c.(8746-8748)Cat>Tat	p.H2916Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.H2933Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2933	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAAAAAGATGATGGAAGACA	0.418000													12	46					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163235239	163235239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:163235239C>T	ENST00000337019.3	+	3	441	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.R73*|PACRG_ENST00000542669.1_3'UTR|PACRG_ENST00000366889.2_Nonsense_Mutation_p.R73*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	73										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CACAGCATTTCGAAAATTCTA	0.468000													9	55					0	0	1	0	0
CTSW	1521	broad.mit.edu	37	11	65649946	65649946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65649946G>A	ENST00000528419.1	+	5	491	c.487G>A	c.(487-489)Gag>Aag	p.E163K	CTSW_ENST00000307886.3_Missense_Mutation_p.E163K			P56202	CATW_HUMAN	cathepsin W	163					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		AGGCAACATAGAGACCCTGTG	0.642000													5	78					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72960726	72960726	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72960726G>A	ENST00000425042.2	-	2	145	c.66_splice	c.e2-1	p.P23_splice	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		GGCTTCCACGGGCTGTGGGGG	0.612000													5	34					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50596996	50596996	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50596996C>T	ENST00000444124.2	-	5	680	c.480G>A	c.(478-480)cgG>cgA	p.R160R	DDC_ENST00000357936.5_Silent_p.R160R|DDC_ENST00000380984.4_Silent_p.R160R|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Silent_p.R82R|DDC_ENST00000431062.1_Intron	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	160	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACTTTGGTCCGAGCGGCCA	0.557000													6	70					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125844	82125844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:82125844C>T	ENST00000395578.1	-	2	474	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PRKG2_ENST00000264399.1_Missense_Mutation_p.G120R|PRKG2_ENST00000418486.2_Missense_Mutation_p.G120R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	120					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCCTTTGCTCCCCTCCTGCTA	0.537000													15	55					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135568	156135568	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156135568G>A	ENST00000329476.3	+	2	966	c.477G>A	c.(475-477)aaG>aaA	p.K159K	NPY2R_ENST00000506608.1_Silent_p.K159K	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	159					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TAGAGAGCAAGATCTCCAAGC	0.557000													3	18					0	0	1	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509700	125509700	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125509700C>T	ENST00000341446.8	+	3	571	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_080626.5	NP_542193.3	Q8WY22	BRI3B_HUMAN	BRI3 binding protein	160						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TCTTCTGGATCGTGCGGGTCG	0.627000													7	97					0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55888983	55888983	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55888983C>T	ENST00000291934.3	+	3	135	c.117C>T	c.(115-117)gaC>gaT	p.D39D	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	39	P-type.					integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATATGGGACCGGGAGAGCT	0.632000													10	161					0	0	1	0	0
CDKL5	6792	broad.mit.edu	37	X	18626971	18626971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:18626971C>T	ENST00000379989.3	+	14	2270	c.1985C>T	c.(1984-1986)tCt>tTt	p.S662F	CDKL5_ENST00000379996.3_Missense_Mutation_p.S662F|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	662					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GTGGCAAGATCTTCGGTCAAA	0.438000													5	19					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926215	50926215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50926215G>A	ENST00000595883.1	+	4	285	c.260G>A	c.(259-261)gGg>gAg	p.G87E	SPIB_ENST00000439922.2_Intron|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000597855.1_Missense_Mutation_p.G87E|SPIB_ENST00000270632.7_Missense_Mutation_p.G87E	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	87					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCCTGCAGGGAACCTCGAA	0.667000													6	56					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669217	127669217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:127669217C>T	ENST00000249363.3	-	2	1734	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	493	Thr-rich.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGAATGAGCACCGTGGTAGAG	0.567000													6	77					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72717957	72717957	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72717957G>A	ENST00000428206.1	-	8	910	c.897C>T	c.(895-897)ttC>ttT	p.F299F	NSUN5_ENST00000310326.8_Silent_p.F337F|NSUN5_ENST00000252594.6_Silent_p.F337F|NSUN5_ENST00000438747.2_Silent_p.F337F	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	337							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCGCTGCTGGAACCCTGCCA	0.627000													12	32					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121465519	121465519	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121465519A>T	ENST00000257570.5	-	4	1029	c.759T>A	c.(757-759)aaT>aaA	p.N253K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	253					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAACATGAAATTCTCGTCTT	0.483000													34	493					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045866	112045866	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:112045866G>A	ENST00000241356.4	-	1	516	c.111C>T	c.(109-111)gtC>gtT	p.V37V	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Silent_p.V37V	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	37					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGTTCAGCTTGACCACGCAGA	0.522000													7	26					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409980	159409980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159409980G>A	ENST00000423932.3	+	1	469	c.432G>A	c.(430-432)atG>atA	p.M144I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	144					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGAGATACATGGTTATTATGA	0.468000													9	35					0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22078983	22078983	+	Silent	SNP	G	G	A	rs143500575	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22078983G>A	ENST00000454243.2	-	5	1450	c.876C>T	c.(874-876)gtC>gtT	p.V292V	PHYHIP_ENST00000321613.3_Silent_p.V292V	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	292										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GGGACAGGTCGACGGGCTCAG	0.602000													7	120					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187172417	187172417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187172417C>T	ENST00000264690.6	+	8	990	c.803C>T	c.(802-804)tCc>tTc	p.S268F	KLKB1_ENST00000513864.1_Missense_Mutation_p.S268F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	268	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACACCAAGTTCCTCTACTCCT	0.299000													8	91					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48262926	48262926	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48262926G>A	ENST00000225964.5	-	51	4450	c.4332C>T	c.(4330-4332)ccC>ccT	p.P1444P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1444	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAACGTCCAAGGGGGCCACAT	0.607000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						15	75					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822269	129822269	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:129822269G>A	ENST00000422113.2	-	4	1535	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	403						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGGTACTCGACCTGCCACG	0.577000													9	105					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73731909	73731909	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73731909C>T	ENST00000223398.6	+	2	360	c.33C>T	c.(31-33)ggC>ggT	p.G11G	CLIP2_ENST00000361545.5_Silent_p.G11G|CLIP2_ENST00000395060.1_Silent_p.G11G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	11						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCCCCCCGGCCGTGGGGGGA	0.662000													17	92					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33498838	33498838	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33498838G>A	ENST00000404816.2	+	16	3086	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	LTBP1_ENST00000407925.1_Silent_p.R585R|LTBP1_ENST00000404525.1_Silent_p.R532R|LTBP1_ENST00000402934.1_Silent_p.R532R|LTBP1_ENST00000354476.3_Silent_p.R912R|LTBP1_ENST00000390003.4_Silent_p.R586R|LTBP1_ENST00000418533.2_Silent_p.R585R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	911					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AACAACAGAGGAAATGTGTGG	0.363000													3	16					0	0	1	0	0
FAM21B	55747	broad.mit.edu	37	10	47909221	47909221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:47909221C>T	ENST00000358474.5	+	10	791	c.791C>T	c.(790-792)tCg>tTg	p.S264L		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	264					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GAGGACTTCTCGCCATTTGGC	0.527000													25	130					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118550	4118550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:4118550C>T	ENST00000324333.10	-	3	656	c.463G>A	c.(463-465)Gat>Aat	p.D155N	GLIS3_ENST00000381971.3_Missense_Mutation_p.D310N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	155					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCGATGCCATCGGACAGCGGG	0.612000													5	86					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729506	106729506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:106729506G>A	ENST00000299045.3	+	7	1036	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	288										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCCTGGGGCCGAAAATACCTC	0.383000													5	27					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9768817	9768817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9768817G>A	ENST00000383832.3	+	20	1613	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	CPNE9_ENST00000383831.3_Missense_Mutation_p.D475N	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	475	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTTGGACGGTGATGATGTGCG	0.597000													10	119					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33154504	33154504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33154504C>T	ENST00000341947.2	-	5	925	c.698G>A	c.(697-699)aGg>aAg	p.R233K	COL11A2_ENST00000374714.1_Missense_Mutation_p.R233K|COL11A2_ENST00000374708.4_Missense_Mutation_p.R233K|COL11A2_ENST00000374712.1_Missense_Mutation_p.R233K|COL11A2_ENST00000361917.1_Missense_Mutation_p.R233K|COL11A2_ENST00000395197.1_Missense_Mutation_p.R233K|COL11A2_ENST00000374713.1_Missense_Mutation_p.R233K|COL11A2_ENST00000395194.1_Missense_Mutation_p.R233K|COL11A2_ENST00000357486.1_Missense_Mutation_p.R233K	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	233	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTCTTTCCCTCTGGCCCCC	0.562000													35	118					0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303708	11303708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11303708G>A	ENST00000432929.2	-	4	1408	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	KANK2_ENST00000586659.1_Missense_Mutation_p.P350S|KANK2_ENST00000355150.5_Missense_Mutation_p.P350S|KANK2_ENST00000589894.1_Missense_Mutation_p.P350S|KANK2_ENST00000589359.1_Missense_Mutation_p.P350S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	350										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGCTGTGCGGGGGCGCCAGCG	0.716000													4	20					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666742	57666742	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:57666742T>C	ENST00000554048.2	-	5	438		c.e5-2			NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GAACCAAATCTAAGTGGTAAG	0.373000													6	31					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114515914	114515914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114515914C>T	ENST00000369558.1	+	16	3645	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	HIPK1_ENST00000426820.2_Missense_Mutation_p.S1138F|HIPK1_ENST00000406344.1_Missense_Mutation_p.S744F|HIPK1_ENST00000369561.4_Missense_Mutation_p.S1104F|HIPK1_ENST00000340480.4_Missense_Mutation_p.S764F|HIPK1_ENST00000369554.2_Missense_Mutation_p.S1093F|HIPK1_ENST00000369553.1_Missense_Mutation_p.S744F|HIPK1_ENST00000369555.2_Missense_Mutation_p.S1093F			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGGGTTCCTCAAGGCAT	0.587000													37	107					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7798259	7798259	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:7798259T>A	ENST00000303635.7	+	16	4106	c.3899T>A	c.(3898-3900)cTc>cAc	p.L1300H	CAMTA1_ENST00000439411.2_Missense_Mutation_p.L1300H	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCCGGGAACTCTCCCCTCCC	0.512000			T	WWTR1	epitheliod hemangioendothelioma								7	25					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819267	41819267	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41819267C>T	ENST00000304330.4	-	14	1863		c.e14-1		RPAP1_ENST00000561603.1_Splice_Site	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACTCCAGGACCTATGGGAGAC	0.552000													5	51					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17679497	17679497	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17679497C>T	ENST00000252599.4	+	5	924	c.804C>T	c.(802-804)gtC>gtT	p.V268V	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		ACATCATCGTCTTTGCCTTCT	0.567000													5	32					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105849723	105849723	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105849723C>T	ENST00000447393.1	+	16	1828	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	PACS2_ENST00000551743.1_Silent_p.T61T|PACS2_ENST00000430725.2_Silent_p.T472T|PACS2_ENST00000547217.1_Silent_p.T517T|PACS2_ENST00000458164.2_Silent_p.T551T|PACS2_ENST00000325438.8_Silent_p.T547T	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	547					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		AGCCCCCGACCCCCGTGAAGA	0.647000													8	56					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55034644	55034644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55034644C>T	ENST00000251091.5	+	1	315	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	SAMD4A_ENST00000554335.1_Missense_Mutation_p.R4C|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R4C|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R3C|SAMD4A_ENST00000555112.1_3'UTR	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	4					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CATGATGTTTCGCGACCAGGT	0.701000													5	64					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36809042	36809042	+	Silent	SNP	G	G	A	rs111658119	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36809042G>A	ENST00000359297.2	-	9	1019	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	STK40_ENST00000373129.3_Silent_p.L338L|STK40_ENST00000373130.3_Silent_p.L343L|STK40_ENST00000373132.3_Silent_p.L338L			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	338						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				AGAGATGACAGGGACTGCCTG	0.567000													3	22					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490518	149490518	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149490518C>T	ENST00000378016.2	+	0	5994							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)			CCGCACACTGCTCACCCTACT	0.672000													3	19					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56320356	56320356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56320356C>T	ENST00000262290.4	+	2	332	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	LPO_ENST00000421678.2_Missense_Mutation_p.H6Y|LPO_ENST00000543544.1_5'UTR|LPO_ENST00000582328.1_Missense_Mutation_p.H6Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	6					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCCTTCTCCATCTCCCAGC	0.537000													7	187					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113856862	113856862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113856862G>A	ENST00000504030.2	+	6	1115	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.E209K|HTR3A_ENST00000375498.2_Missense_Mutation_p.E230K|HTR3A_ENST00000355556.2_Missense_Mutation_p.E230K|HTR3A_ENST00000506841.2_Missense_Mutation_p.E224K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	224					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTTCAGCATGGAAAGCAGTAA	0.483000													11	136					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125621201	125621201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125621201G>A	ENST00000373670.1	-	11	2630	c.2030C>T	c.(2029-2031)cCg>cTg	p.P677L	RC3H2_ENST00000357244.2_Missense_Mutation_p.P677L|RC3H2_ENST00000423239.2_Missense_Mutation_p.P677L			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	677	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATACGGCTGCGGAGGAGGAGG	0.537000													10	96					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223086039	223086039	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:223086039T>C	ENST00000350526.4	-	6	996	c.860A>G	c.(859-861)aAc>aGc	p.N287S	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Missense_Mutation_p.N287S|PAX3_ENST00000344493.4_Missense_Mutation_p.N287S|PAX3_ENST00000392070.2_Missense_Mutation_p.N287S|PAX3_ENST00000409551.3_Missense_Mutation_p.N286S|PAX3_ENST00000392069.2_Missense_Mutation_p.N287S	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	287					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGAGATGGTTGAAAGCCAT	0.507000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						4	29					0	0	1	0	0
OR9A2	135924	broad.mit.edu	37	7	142723664	142723664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142723664C>T	ENST00000350513.2	-	1	618	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					AGAGTGTTATCGCAGGACAGT	0.398000													14	49					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2582846	2582846	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2582846G>A	ENST00000340611.4	-	6	1171	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	305					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						ACCAGTGCTCGAGCTTCAGGA	0.647000													7	53					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64092741	64092741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64092741G>A	ENST00000392769.2	-	7	870	c.652C>T	c.(652-654)Cct>Tct	p.P218S	CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.P218S	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	218						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						AGGTATCGAGGATTTTCTATC	0.279000													3	8					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797800	76797800	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76797800C>A	ENST00000286719.7	-	11	1316	c.960G>T	c.(958-960)acG>acT	p.T320T		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	320	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTCTGTCTCGTTTTGCACC	0.522000													4	75					1	1	1	1	0
CPLX2	10814	broad.mit.edu	37	5	175306869	175306869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:175306869G>A	ENST00000359546.4	+	5	869	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CPLX2_ENST00000393745.3_Missense_Mutation_p.E76K|CPLX2_ENST00000515094.1_Missense_Mutation_p.E76K	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	76	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGAAGAAGGAGGAGAAGGA	0.647000													5	16					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128520663	128520663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128520663G>A	ENST00000322313.4	-	7	855	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	WDR33_ENST00000393006.1_Missense_Mutation_p.R233C|WDR33_ENST00000409658.3_3'UTR	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	233					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCATGGCAACGAAGAAAGTCC	0.403000													5	41					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924400	34924400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:34924400C>T	ENST00000356577.4	+	3	3338	c.2863C>T	c.(2863-2865)Ccc>Tcc	p.P955S	SON_ENST00000381679.4_Missense_Mutation_p.P955S|SON_ENST00000290239.6_Missense_Mutation_p.P955S|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P955S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	955	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGCCATGATCCCTACAGACT	0.483000													5	72					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578439	44578439	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44578439C>T	ENST00000289547.4	-	2	1612	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	NPC1L1_ENST00000423141.1_Silent_p.K519K|NPC1L1_ENST00000381160.3_Silent_p.K519K|NPC1L1_ENST00000546276.1_Silent_p.K519K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	519					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAAAATGGTCCTTCCAGTCGA	0.612000													10	86					0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91098435	91098435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:91098435C>T	ENST00000371818.4	+	2	203	c.23C>T	c.(22-24)tCc>tTc	p.S8F	LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.S8F|LIPA_ENST00000371837.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	8					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						ACCAAGAATTCCCTGGAGAAA	0.418000													6	26					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964128	209964128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209964128G>A	ENST00000367021.3	-	7	944	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S	IRF6_ENST00000542854.1_Missense_Mutation_p.P163S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	258					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCAGGCATGGGACCCAGGTCC	0.562000										HNSCC(57;0.16)			8	44					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499395	75499395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75499395C>T	ENST00000360639.2	+	2	1326	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S	C15orf39_ENST00000394987.4_Missense_Mutation_p.P336S|C15orf39_ENST00000567617.1_Missense_Mutation_p.P336S			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	336										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTACATTCCCCCACTGGG	0.687000													5	43					0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113460261	113460261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:113460261G>A	ENST00000538576.1	-	4	1598	c.767C>T	c.(766-768)aCc>aTc	p.T256I	SLC16A1_ENST00000369626.3_Missense_Mutation_p.T256I|SLC16A1_ENST00000433570.4_Missense_Mutation_p.T256I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	256					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	GGTGAATAGGGTTAAGTCCAG	0.383000													7	52					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097990	9097990	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9097990T>C	ENST00000377424.4	-	11	1447	c.1268A>G	c.(1267-1269)aAc>aGc	p.N423S	SLC2A5_ENST00000535586.1_Missense_Mutation_p.N308S|SLC2A5_ENST00000536305.1_Missense_Mutation_p.N364S	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	423					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACGGTGAAGTTGGAGAGCCA	0.632000													14	37					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6021700	6021700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:6021700C>T	ENST00000378858.4	-	5	2415	c.2191G>A	c.(2191-2193)Gat>Aat	p.D731N		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	731						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGGTAATCATCAAAGGCC	0.607000													9	36					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42424830	42424830	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:42424830C>T	ENST00000381668.5	-	35	3530	c.3299G>A	c.(3298-3300)gGa>gAa	p.G1100E	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G1085E	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1100					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTACCTTTTTCCAAGTACAAC	0.343000													20	101					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872835	136872835	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136872835A>T	ENST00000409817.1	-	1	978	c.675T>A	c.(673-675)atT>atA	p.I225I	CXCR4_ENST00000241393.3_Silent_p.I221I|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	221					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TGGAGATGATAATGCAATAGC	0.522000													5	74					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223934850	223934850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223934850C>T	ENST00000295006.5	+	5	1021	c.712C>T	c.(712-714)Ctt>Ttt	p.L238F	CAPN2_ENST00000433674.2_Missense_Mutation_p.L160F	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	238	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		AGGCTCTCTCCTTGGCTGCTC	0.562000													16	81					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915913	126915913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126915913C>T	ENST00000398112.1	+	2	625	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CAACCTATTTCCTTTCCCCAT	0.607000													30	165					0	0	1	0	0
RPLP0P6	220717	broad.mit.edu	37	2	38709244	38709244	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:38709244G>A	ENST00000417039.1	-	0	696																											ATATCTGGGGGAATGTGGGCT	0.572000													4	67					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49394988	49394988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49394988G>A	ENST00000419783.1	-	2	766	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F	GPX1_ENST00000419349.1_3'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	149					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CAGGTGATGAGCTTGGGGTCG	0.662000													4	52					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026704	182026704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182026704C>T	ENST00000339948.3	-	2	649	c.442G>A	c.(442-444)Ggt>Agt	p.G148S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CCATCATCACCCGCAGGTAGT	0.562000													11	60					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109926464	109926464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109926464C>T	ENST00000342494.3	+	7	1130	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	UBE3B_ENST00000540230.1_Missense_Mutation_p.R179W|UBE3B_ENST00000537063.1_Missense_Mutation_p.R179W|UBE3B_ENST00000434735.2_Missense_Mutation_p.R179W|UBE3B_ENST00000536398.1_Missense_Mutation_p.R179W|UBE3B_ENST00000340074.5_Missense_Mutation_p.R179W|UBE3B_ENST00000280774.5_Missense_Mutation_p.R179W	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAAAATTCTTCGGGGAAAAGG	0.448000													8	94					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898852	37898852	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37898852C>T	ENST00000309156.4	+	3	446	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.S86S|GRB7_ENST00000394204.1_Silent_p.S63S|GRB7_ENST00000394209.2_Silent_p.S63S|GRB7_ENST00000394211.3_Silent_p.S63S|GRB7_ENST00000309185.3_Silent_p.S63S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCCACCTCCCTCCCCTCTA	0.627000													11	127					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	G	A	rs150100724		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:131922058G>A	ENST00000286355.5	-	6	3628	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_ENST00000377928.3_Silent_p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473000										HNSCC(32;0.087)			6	53					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265030	39265030	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:39265030C>T	ENST00000280481.7	+	1	3765	c.3549C>T	c.(3547-3549)atC>atT	p.I1183I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1183					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCATTGTAATCATTCCCACCA	0.428000													20	83					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282724	47282724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47282724G>A	ENST00000271153.4	+	9	1111	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D197N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D345N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D360N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	359					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGGATGATCTGGGCAA	0.552000													14	147					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102460559	102460559	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102460559C>T	ENST00000360184.4	+	12	3218	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1018	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGAGAAATTCTATCGGAATG	0.433000													6	101					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73678219	73678219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73678219C>T	ENST00000264448.6	+	8	4673	c.4562C>T	c.(4561-4563)tCc>tTc	p.S1521F	ALMS1_ENST00000377715.1_Missense_Mutation_p.S1521F|ALMS1_ENST00000409009.1_Missense_Mutation_p.S1479F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1521	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACCTCTCCTTCCTACTCACAA	0.488000													12	41					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638438	8638438	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:8638438C>T	ENST00000293845.3	-	6	1075	c.849G>A	c.(847-849)gaG>gaA	p.E283E	CCDC42_ENST00000539522.2_Silent_p.E209E	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	283										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGTGGGTGTCCTCCAGTGCCA	0.607000													4	38					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121093865	121093865	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121093865C>T	ENST00000453000.1	+	1	764	c.252C>T	c.(250-252)ctC>ctT	p.L84L	CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Intron			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0						cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCCTGCCTCTCTTTTGCAT	0.642000													10	130					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245804	33245804	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33245804G>A	ENST00000373477.4	-	11	2124	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	406	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AACTGTACCAGGCCGCTCACC	0.577000													11	196					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61897294	61897294	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61897294C>A	ENST00000394818.3	+	4	497	c.295C>A	c.(295-297)Cga>Aga	p.R99R	INCENP_ENST00000278849.4_Silent_p.R99R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	99					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTGAGCTCCCGACGCCTCCG	0.667000													9	26					3.86212e-05	3.91418e-05	1	1	0
ZMYND8	23613	broad.mit.edu	37	20	45878181	45878181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45878181G>A	ENST00000311275.7	-	13	1817	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.R522*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.R542*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.R470*|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.R549*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.R517*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.R522*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.R517*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.R542*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.R522*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.R542*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.R517*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.R459*			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	522							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTTTGCTTCGATCTGAAAGA	0.502000													12	51					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40011334	40011334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40011334G>A	ENST00000319121.3	-	2	845	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	262	BACK.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AACCTCTTCAGAATCAACTGT	0.368000													8	43					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541018	72541018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72541018G>A	ENST00000330793.1	-	2	490	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R44C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTCATAGCGACACTGCACA	0.532000													10	64					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128865525	128865525	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128865525C>T	ENST00000375990.3	+	4	622	c.219C>T	c.(217-219)tcC>tcT	p.S73S	UGGT1_ENST00000259253.6_Silent_p.S97S			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	97					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGATTATTCCTACTATCATG	0.378000													5	73					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1404725	1404725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1404725C>T	ENST00000381524.3	+	4	317	c.131C>T	c.(130-132)aCg>aTg	p.T44M	CSF2RA_ENST00000417535.2_Missense_Mutation_p.T44M|CSF2RA_ENST00000381509.3_Missense_Mutation_p.T44M|CSF2RA_ENST00000381500.1_Missense_Mutation_p.T44M|CSF2RA_ENST00000355805.2_Missense_Mutation_p.T44M|CSF2RA_ENST00000432318.2_Missense_Mutation_p.T44M|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.T44M|CSF2RA_ENST00000381529.3_Missense_Mutation_p.T44M|CSF2RA_ENST00000361536.3_Missense_Mutation_p.T44M			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	44						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GACTCCAGGACGATGAATTTA	0.478000													11	178					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572925	103572925	+	Missense_Mutation	SNP	C	C	T	rs149163506		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:103572925C>T	ENST00000285402.3	+	2	722	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	189					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GTAACATACTCCTATGGGCTC	0.547000													4	29					0	0	1	0	0
GOLM1	51280	broad.mit.edu	37	9	88692472	88692472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:88692472C>T	ENST00000388712.3	-	3	332	c.164G>A	c.(163-165)aGg>aAg	p.R55K	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Missense_Mutation_p.R55K	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	55						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCAGCCGCCCTGCGGACCCT	0.607000													4	69					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35339031	35339031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:35339031C>T	ENST00000278379.3	-	2	332	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	SLC1A2_ENST00000395753.1_Missense_Mutation_p.R8Q|SLC1A2_ENST00000395750.1_Missense_Mutation_p.R8Q|SLC1A2_ENST00000606205.1_Missense_Mutation_p.R17Q	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTCGTGCATTCGCACTTCCAC	0.567000													12	226					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832029	35832029	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35832029C>T	ENST00000085219.5	+	7	1561	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L	CD22_ENST00000270311.6_Silent_p.L379L|CD22_ENST00000544992.2_Silent_p.L499L|CD22_ENST00000536635.2_Silent_p.L411L|CD22_ENST00000341773.6_Silent_p.L322L|CD22_ENST00000419549.2_Silent_p.L327L|CD22_ENST00000594250.1_Silent_p.L322L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	499	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCTGTCGCCCTGAATGTCCA	0.622000													16	78					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112751959	112751959	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112751959G>A	ENST00000295408.4	+	9	1685	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	MERTK_ENST00000421804.2_Silent_p.V476V|MERTK_ENST00000409780.1_Silent_p.V300V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	476	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGATCCAGTGAAAATATTTA	0.537000													9	84					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647226	54647226	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54647226C>T	ENST00000406403.1	+	3	1745	c.142C>T	c.(142-144)Cta>Tta	p.L48L	CNOT3_ENST00000221232.5_Silent_p.L48L|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	48					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGCTGACCTAAAGAAGGA	0.547000													12	58					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48247506	48247506	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48247506G>A	ENST00000262018.3	+	7	786	c.750G>A	c.(748-750)gtG>gtA	p.V250V	SGCA_ENST00000344627.6_Intron|SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	250					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTGTGCAGGTGGATAAGTCAG	0.632000													5	23					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129147270	129147270	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129147270C>T	ENST00000540052.1	+	3	566	c.522C>T	c.(520-522)ttC>ttT	p.F174F	BCORL1_ENST00000359304.2_Silent_p.F174F|BCORL1_ENST00000218147.7_Silent_p.F174F|BCORL1_ENST00000303743.5_Silent_p.F174F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	174					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGAATACTTTCATTTTGGCAA	0.552000													14	19					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843645	16843645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:16843645G>A	ENST00000437538.2	-	3	496	c.488C>T	c.(487-489)tCc>tTc	p.S163F	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.S163F|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.S209F			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	209					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCACCCTGGGAAGACTTGGC	0.642000									IgA Deficiency, Selective				6	91					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124257473	124257473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124257473C>T	ENST00000409039.3	+	4	331	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	102	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGTTTTTCCTCAGAAATA	0.468000													8	88					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150649663	150649663	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150649663G>A	ENST00000392968.2	-	4	2239	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	KCNH2_ENST00000330883.4_Silent_p.I129I|KCNH2_ENST00000262186.5_Silent_p.I469I|KCNH2_ENST00000430723.3_Silent_p.I469I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	469					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGCGGAAGTTGATGAGGATGT	0.607000													20	92					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74991854	74991854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74991854C>T	ENST00000261978.4	-	15	2889	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D835N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	835					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACCAGCACATCAGTGGAGGGG	0.597000													12	82					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213631	21213631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21213631C>T	ENST00000215730.6	+	1	361	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	78					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GTCGCCTCTTCCGAGGTGAGC	0.607000													7	97					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65726390	65726390	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65726390G>A	ENST00000532620.1	+	0	1590							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGTACCAGGCGGAGCTGCAAG	0.622000													8	59					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423375	26423375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26423375G>A	ENST00000335473.7	+	43	7685	c.7435G>A	c.(7435-7437)Gag>Aag	p.E2479K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2480K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2479K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2479						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						TGAAACGGAAGAGGCTAACCG	0.562000													6	53					0	0	1	0	0
QPRT	23475	broad.mit.edu	37	16	29706143	29706143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29706143C>T	ENST00000395384.4	+	2	333	c.172C>T	c.(172-174)Cct>Tct	p.P58S	QPRT_ENST00000562473.1_Intron|AC009133.19_ENST00000449759.1_Missense_Mutation_p.96_96insS|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	58					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	GGCAGGGCAGCCTTTCTTCGA	0.647000													8	113					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724660	112724660	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:112724660G>A	ENST00000501255.2	-	3	740	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPR85_ENST00000297146.2_Silent_p.L39L|GPR85_ENST00000449591.1_Silent_p.L39L|GPR85_ENST00000424100.1_Silent_p.L39L	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGGAGATCAGGAGGTTGCCCA	0.433000													4	56					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520547	33520547	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:33520547C>T	ENST00000297307.5	-	1	865	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	260						integral to membrane											AGGCGAGGATCCCCACTGCCC	0.642000													19	93					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51749712	51749712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51749712G>A	ENST00000543196.2	-	10	1838	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	GALNT6_ENST00000356317.3_Missense_Mutation_p.R545C			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	545	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATGTTGTGGCGAAGGTCCCTC	0.542000													4	73					0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262695	159262695	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:159262695C>T	ENST00000522287.1	-	0	648					NR_028496.1																						AATCCAGTATCCATTGAGTTC	0.413000													4	55					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90446517	90446517	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90446517G>A	ENST00000357484.5	-	5	723	c.603C>T	c.(601-603)gcC>gcT	p.A201A	C15orf38-AP3S2_ENST00000398333.3_Silent_p.A201A|C15orf38_ENST00000460685.1_Silent_p.A105A|C15orf38-AP3S2_ENST00000560224.1_5'UTR	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AACACTTTTGGGCCATGATGT	0.532000													25	100					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970902	123970902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123970902C>T	ENST00000369005.1	+	9	7302	c.6962C>T	c.(6961-6963)tCc>tTc	p.S2321F	TACC2_ENST00000453444.2_Missense_Mutation_p.S2325F|TACC2_ENST00000368999.1_Missense_Mutation_p.S399F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2321F|TACC2_ENST00000360561.3_Missense_Mutation_p.S399F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2276F|TACC2_ENST00000369004.3_Missense_Mutation_p.S399F|TACC2_ENST00000260733.3_Missense_Mutation_p.S399F|TACC2_ENST00000369001.1_Missense_Mutation_p.S25F|TACC2_ENST00000513429.1_Missense_Mutation_p.S467F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2325F|TACC2_ENST00000369000.1_Missense_Mutation_p.S25F|TACC2_ENST00000358010.1_Missense_Mutation_p.S467F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2321	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCTCCCAGATCCCCTGCTGAA	0.468000													32	166					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117973950	117973950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117973950G>A	ENST00000534111.1	+	4	551	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TMPRSS4_ENST00000437212.3_Missense_Mutation_p.E98K|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.E58K|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.E98K	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	98	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GAGCTTCCCCGAAGGGCCTGC	0.632000													13	95					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188109	140188109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140188109C>T	ENST00000530339.1	+	1	1337	c.1337C>T	c.(1336-1338)gCt>gTt	p.A446V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A446V|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A446V|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTGGCTGATGTGAAC	0.642000													12	73					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807625	20807625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20807625G>A	ENST00000601440.1	-	4	1204	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGGTAGAGGAGTACTTAAA	0.393000													7	39					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80328081	80328081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:80328081G>A	ENST00000281127.7	+	6	1952	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	NRXN3_ENST00000557594.1_Missense_Mutation_p.G563E|NRXN3_ENST00000335750.5_Missense_Mutation_p.G987E|NRXN3_ENST00000554719.1_Missense_Mutation_p.G987E|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.G385E	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	563					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCACAACAGGGATGGTCGTC	0.602000													6	25					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25098952	25098952	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:25098952G>A	ENST00000533227.1	+	11	965	c.678_splice	c.e11+1	p.Q226_splice	LUZP2_ENST00000336930.6_Splice_Site_p.Q312_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	312						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTATCCCACAGGTATGTGTTT	0.313000													5	81					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113281573	113281573	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113281573A>G	ENST00000362072.3	-	8	1552	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T	DRD2_ENST00000355319.2_Missense_Mutation_p.I405T|DRD2_ENST00000542968.1_Missense_Mutation_p.I403T|DRD2_ENST00000346454.3_Missense_Mutation_p.I374T|DRD2_ENST00000544518.1_Missense_Mutation_p.I402T|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000538967.1_Missense_Mutation_p.I405T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	403					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GACAGGCGGGATGTTGCAGTC	0.572000													4	61					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944272	81944272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81944272C>T	ENST00000359376.3	+	18	2095	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	627	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCCGAGTTCGAGCTGCGGC	0.632000													20	131					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25925990	25925990	+	Silent	SNP	G	G	A	rs142515299		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25925990G>A	ENST00000356865.6	-	19	3756	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1215					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGTGGAGCAGGAAAGTGAGCA	0.562000													6	114					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96447668	96447668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:96447668G>A	ENST00000285979.6	+	2	509	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E104K	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TCCAGTGGCTGAAAAAGTTAA	0.458000													3	10					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6066665	6066665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6066665G>A	ENST00000409021.3	-	9	1822	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	JAKMIP1_ENST00000410077.2_Missense_Mutation_p.S293F|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.S458F|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.S458F|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.S273F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	458	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGTTGTAGGATGTTTCGGA	0.493000													5	48					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134114857	134114857	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134114857C>T	ENST00000281187.5	+	5	1225	c.747C>T	c.(745-747)ttC>ttT	p.F249F	VPS26B_ENST00000525095.2_Silent_p.F249F	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	249					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCCGGCTCTTCCTGGCCGGGT	0.597000											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847694	46847694	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46847694G>A	ENST00000283296.7	-	9	1185	c.897C>T	c.(895-897)tcC>tcT	p.S299S	GPR116_ENST00000265417.7_Silent_p.S299S|GPR116_ENST00000362015.4_Silent_p.S299S|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	299	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACACATTGGAGGACAAAACTT	0.428000													5	15					0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178482772	178482772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178482772G>A	ENST00000355689.4	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	220					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGATGCTGGCGGATGCCACGC	0.542000													4	44					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791255	106791255	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106791255C>T	ENST00000390613.2	-	0	180																											CAGGGACCTCCCAGGCTGGAC	0.592000													5	99					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2752419	2752419	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2752419G>A	ENST00000312371.4	+	7	1772	c.1404G>A	c.(1402-1404)ggG>ggA	p.G468G	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	468							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGTGCTGGGGGACAAGTTCT	0.662000													4	61					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334227	158334227	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:158334227C>T	ENST00000404321.2	-	1	71	c.72G>A	c.(70-72)gtG>gtA	p.V24V	PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000409483.1_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGTGGCTCACACAGAACA	0.522000													5	77					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884053	24884053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884053C>T	ENST00000382554.3	+	9	3416	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1033					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						GAGTGCCCGTCCCTTTCGGAG	0.647000													8	51					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045536	35045536	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35045536G>A	ENST00000312292.5	+	2	2957	c.2910G>A	c.(2908-2910)ggG>ggA	p.G970G	C9orf131_ENST00000421362.2_Silent_p.G922G|C9orf131_ENST00000354479.5_Silent_p.G897G	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	970										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAGTCACAGGGAAGAACCACC	0.552000													6	52					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43624454	43624454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43624454C>T	ENST00000372165.4	+	4	672	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	RSPH9_ENST00000372163.4_Missense_Mutation_p.P222S	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	222					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATGACATTCCCAAAGGTAA	0.522000									Kartagener syndrome				10	124					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50532358	50532358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50532358G>A	ENST00000317551.6	-	5	659	c.535C>T	c.(535-537)Cca>Tca	p.P179S	CERS5_ENST00000422340.2_Missense_Mutation_p.P121S	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	179	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACCTGAAATGGATAGTTATGC	0.483000													10	119					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39994235	39994235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39994235G>A	ENST00000336649.4	+	4	316	c.316G>A	c.(316-318)Gac>Aac	p.D106N	CACNA1I_ENST00000400164.3_Missense_Mutation_p.D106N|CACNA1I_ENST00000402142.3_Missense_Mutation_p.D106N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D106N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D106N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D106N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	106					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CGACGACATGGACTGCCTGTC	0.647000													3	11					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16250070	16250070	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:16250070C>T	ENST00000339732.5	+	4	1475	c.972C>T	c.(970-972)ccC>ccT	p.P324P	GALNT15_ENST00000437509.1_Silent_p.P324P	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGTATTACCCCTCAAAGGACC	0.512000													10	107					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95480936	95480936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:95480936G>A	ENST00000356884.6	-	5	2058	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	BICD2_ENST00000375512.3_Missense_Mutation_p.A664V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	664	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTGTCCACGGCGGGGCCCAG	0.622000													17	201					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242222	5242222	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5242222G>A	ENST00000274181.7	+	17	2718	c.2580G>A	c.(2578-2580)ttG>ttA	p.L860L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	860	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCTCGCTTGGGGACCGAGA	0.552000													5	63					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645855	51645855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51645855C>T	ENST00000317643.6	+	1	298	c.229C>T	c.(229-231)Cca>Tca	p.P77S	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.P77S|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.P77S	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	77	Ig-like V-type.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTGGAAGGCTCCAGTGGCCAC	0.567000													12	81					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031272	56031272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56031272C>T	ENST00000309675.2	+	1	629	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCGAGATCTCCGTGATGACAG	0.547000													5	85					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3002852	3002852	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3002852C>T	ENST00000216877.6	+	14	1687	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PTPRA_ENST00000358719.4_Silent_p.I294I|PTPRA_ENST00000380393.3_Silent_p.I438I|PTPRA_ENST00000318266.5_Silent_p.I429I|PTPRA_ENST00000425918.2_Silent_p.I449I|PTPRA_ENST00000399903.2_Silent_p.I438I|PTPRA_ENST00000356147.3_Silent_p.I429I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	438	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGGGCCATCGTGGTCCACT	0.602000													6	107					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691489	117691489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117691489C>T	ENST00000317775.6	-	17	3287	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.D902N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	868	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCTGAGGTCGGGCCCATCG	0.562000													5	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047995	9047995	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9047995G>A	ENST00000397910.4	-	5	33839	c.33636C>T	c.(33634-33636)gtC>gtT	p.V11212V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11214	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAACTAGTGACCAGTGAAG	0.488000													4	10					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25611115	25611115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25611115C>T	ENST00000328664.4	+	2	355	c.200C>T	c.(199-201)tCg>tTg	p.S67L	RHD_ENST00000454452.2_Missense_Mutation_p.S67L|RHD_ENST00000417538.2_Missense_Mutation_p.S67L|RHD_ENST00000342055.5_Missense_Mutation_p.S67L|RHD_ENST00000423810.2_Missense_Mutation_p.S67L|RHD_ENST00000357542.4_Missense_Mutation_p.S67L|RHD_ENST00000568195.1_Missense_Mutation_p.S67L|RHD_ENST00000423253.1_3'UTR	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	67						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCTCACCTCGAGTTTCCGG	0.607000													9	85					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713528	183713528	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183713528C>T	ENST00000511685.1	+	26	5826	c.5703C>T	c.(5701-5703)acC>acT	p.T1901T	TENM3_ENST00000406950.2_Silent_p.T1901T					teneurin transmembrane protein 3																		CTCGCCACACCATGCAGACCA	0.552000													6	63					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142641774	142641774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142641774G>A	ENST00000355265.2	-	12	1843	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	457					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCCAGGGAAGGTTTCTGAGG	0.587000													8	34					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36282515	36282515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36282515C>T	ENST00000373210.3	+	2	297	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		GCCACCTCGTCGTCCTGGCCT	0.378000													22	104					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11883832	11883832	+	Silent	SNP	C	C	T	rs147734059	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11883832C>T	ENST00000346436.6	+	7	574	c.522C>T	c.(520-522)atC>atT	p.I174I	CLCN6_ENST00000376487.3_Silent_p.I152I|CLCN6_ENST00000312413.6_Silent_p.I174I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Silent_p.I174I	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	174					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGGAATCGTCCGTCTCC	0.552000													8	70					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7212938	7212938	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:7212938G>A	ENST00000361972.4	-	20	2586	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F	SFMBT2_ENST00000397167.1_Silent_p.F832F	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	832	SAM.				regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGCTTAATGAACCTCACCA	0.557000													6	101					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035753	32035753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32035753C>T	ENST00000375244.3	-	18	6430	c.6229G>A	c.(6229-6231)Gaa>Aaa	p.E2077K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2077K			P22105	TENX_HUMAN	tenascin XB	2155	Fibronectin type-III 13.				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						GGGGTCTCTTCCTCTGCAGCT	0.632000													17	285					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52897394	52897394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52897394G>A	ENST00000261844.7	-	7	2548	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	FAM214A_ENST00000546305.2_Missense_Mutation_p.S806F	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	799																	TCCATCCAAGGAATGAAAATT	0.328000													6	85					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330154	56330154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56330154C>T	ENST00000288221.6	-	3	1222	c.967G>A	c.(967-969)Gag>Aag	p.E323K		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	323						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTGTCATCCTCCAGGCTTTTG	0.448000													13	160					0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43552266	43552266	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43552266G>A	ENST00000220420.5	-	3	427	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	140					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCAGGGATTGAAAAGCAGGA	0.602000													4	49					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27425702	27425702	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27425702G>A	ENST00000310574.3	-	12	1727	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Silent_p.S418S	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	418					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	GTCCCATCTGGGAGGAAATAT	0.458000													7	166					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17715363	17715363	+	RNA	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17715363T>G	ENST00000434762.2	+	0	1000							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTCTGGAGGTTTACCTGTGC	0.542000													7	20					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52874275	52874275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52874275G>A	ENST00000356971.3	-	13	2072	c.1583C>T	c.(1582-1584)tCt>tTt	p.S528F	ICK_ENST00000350082.5_Missense_Mutation_p.S528F	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	528					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TGTCCCTGAAGATTTTCCAGA	0.413000													4	34					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173470236	173470236	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173470236A>G	ENST00000367714.3	-	28	3794	c.3371_splice	c.e28-1	p.S1124_splice	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1124					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CCAGTTTTCAACTATAAAAGA	0.299000													4	14					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676576	11676576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11676576C>T	ENST00000423059.3	-	2	454	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	68	TSP type-1 1.					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)		TCCCATACATCGGCCCCATGG	0.453000										HNSCC(18;0.044)			8	48					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56342222	56342222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:56342222G>A	ENST00000370754.5	-	91	21502	c.21503C>T	c.(21502-21504)aCc>aTc	p.T7168I	DST_ENST00000244364.6_Missense_Mutation_p.T4576I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.T6990I|DST_ENST00000421834.2_Missense_Mutation_p.T4902I|DST_ENST00000370788.2_Missense_Mutation_p.T4793I|DST_ENST00000446842.2_Missense_Mutation_p.T6664I|DST_ENST00000361203.3_Missense_Mutation_p.T6879I			Q03001	DYST_HUMAN	dystonin	6988					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)			AGCCAAAACGGTGTCGCCCAT	0.453000													7	68					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980581	121980581	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121980581G>A	ENST00000498619.1	+	4	1137	c.699G>A	c.(697-699)agG>agA	p.R233R	CASR_ENST00000490131.1_Silent_p.R233R|CASR_ENST00000296154.5_Silent_p.R233R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	233					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGAGGAAAGGGATATCTGCA	0.502000													6	136					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455200	76455200	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76455200G>A	ENST00000389840.5	-	61	9826	c.9702C>T	c.(9700-9702)atC>atT	p.I3234I	DNAH17_ENST00000585328.1_Silent_p.I3243I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGAAGCGGACGATGTTGATGC	0.642000													30	337					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76111857	76111857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76111857C>T	ENST00000324432.5	+	5	811	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	DTX2_ENST00000446600.1_Missense_Mutation_p.P10S|DTX2_ENST00000430490.2_Missense_Mutation_p.P101S|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000413936.2_Missense_Mutation_p.P101S|DTX2_ENST00000446820.2_Missense_Mutation_p.P101S|DTX2_ENST00000307569.8_Missense_Mutation_p.P101S	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	101	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACACCTGTTCCCCCAGCACTC	0.552000													14	63					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361987	9361987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9361987G>A	ENST00000456448.1	+	1	382	c.268G>A	c.(268-270)Ggt>Agt	p.G90S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGCTGACATCGGTTTCACCTC	0.532000													9	26					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883944	63883944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63883944G>A	ENST00000246841.3	+	2	1248	c.205G>A	c.(205-207)Gac>Aac	p.D69N	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	41					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CTACTGCAACGACCGGGGACT	0.607000													7	32					0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13107246	13107246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:13107246G>A	ENST00000378194.4	+	8	1035	c.941G>A	c.(940-942)tGg>tAg	p.W314*	SPTLC3_ENST00000399002.2_Silent_p.V387V			Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	314					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGGACCTCGTGGATTATTTAC	0.433000													6	94					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357215	89357215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89357215G>A	ENST00000301030.4	-	6	879	c.419C>T	c.(418-420)cCc>cTc	p.P140L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P140L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	140						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGACTGGGAGGGGTGCTTTGG	0.552000													8	84					0	0	1	0	0
STARD7	56910	broad.mit.edu	37	2	96859049	96859049	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96859049G>A	ENST00000337288.5	-	4	974	c.591C>T	c.(589-591)atC>atT	p.I197I	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	197	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCTCCAGCTTGATTACCAGGG	0.413000													7	57					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584592	138584592	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:138584592C>T	ENST00000251691.4	+	12	2138	c.1972C>T	c.(1972-1974)Ctg>Ttg	p.L658L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	658	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AACTGCCGCCCTGTCTCTAAA	0.607000													6	63					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204125919	204125919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204125919G>A	ENST00000367195.2	-	6	738	c.695C>T	c.(694-696)tCc>tTc	p.S232F	REN_ENST00000272190.8_Missense_Mutation_p.S235F			P00797	RENI_HUMAN	renin	235					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CAGCGATTGGGAATTCCTAAA	0.527000													6	72					0	0	1	0	0
GRIFIN	402635	broad.mit.edu	37	7	2515561	2515561	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2515561C>T	ENST00000417742.1	-	0	242									galectin-related inter-fiber protein														Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		GACCTGTCCTCTCCAGAGTCA	0.682000													8	75					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108130	64108130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64108130G>A	ENST00000356786.5	+	2	156	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	38	Poly-Glu.				microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ggagggggaagaagaggaaga	0.662000													6	71					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079892	44079892	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079892C>T	ENST00000272286.2	+	6	939	c.849C>T	c.(847-849)gtC>gtT	p.V283V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	283	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTGATCTGGTCCTCCTGATGA	0.587000													33	471					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60747314	60747314	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:60747314G>A	ENST00000261520.4	-	8	1065	c.831C>T	c.(829-831)caC>caT	p.H277H	NARG2_ENST00000561114.1_Silent_p.H277H|NARG2_ENST00000439632.1_Silent_p.H140H	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	277						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTATCTGAGGGTGATATCTGG	0.328000													4	45					0	0	1	0	0
MMS19	64210	broad.mit.edu	37	10	99226606	99226606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99226606C>T	ENST00000438925.2	-	15	1685	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	MMS19_ENST00000327277.7_Missense_Mutation_p.M86I|MMS19_ENST00000355839.6_Missense_Mutation_p.M407I|MMS19_ENST00000327238.10_Missense_Mutation_p.M352I|MMS19_ENST00000370782.2_Missense_Mutation_p.M450I	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	450					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGTTAGAGCCATGAATACCA	0.522000								Direct reversal of damage					5	78					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24738718	24738718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24738718G>A	ENST00000399409.3	-	5	1093	c.610C>T	c.(610-612)Cct>Tct	p.P204S	RABGGTA_ENST00000216840.6_Missense_Mutation_p.P204S|RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000560777.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	204					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACATCCTCAGGGAGGCGCCCC	0.607000													8	130					0	0	1	0	0
SRM	6723	broad.mit.edu	37	1	11116698	11116698	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11116698G>A	ENST00000376957.2	-	4	578	c.498C>T	c.(496-498)gcC>gcT	p.A166A		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	166					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TCACGTCGAAGGCATCCTGAT	0.557000													4	53					0	0	1	0	0
NBPF18P	441908	broad.mit.edu	37	1	151993827	151993827	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151993827C>T	ENST00000432386.1	+	0	2662					NR_103561.1																						GGGCTGCAGGCTGACAGAGAA	0.577000													3	24					0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48181875	48181875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48181875G>A	ENST00000080059.7	-	20	2307	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	HDAC7_ENST00000380610.4_Missense_Mutation_p.R787C|HDAC7_ENST00000354334.3_Missense_Mutation_p.R733C|HDAC7_ENST00000427332.2_Missense_Mutation_p.R731C|HDAC7_ENST00000552960.1_Missense_Mutation_p.R753C	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	731	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TCGTCATGGCGATGCAGGGAG	0.592000													5	80					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188893	8188893	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8188893C>T	ENST00000600128.1	-	23	3146		c.e23-1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATCTCACATCTGCACGGGGG	0.617000													3	15					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48906544	48906544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:48906544C>T	ENST00000508632.1	-	2	255	c.23G>A	c.(22-24)gGa>gAa	p.G8E	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Missense_Mutation_p.G8E	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	8	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						ATCTTGGTTTCCACGAGCAGA	0.433000													14	55					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37002149	37002149	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:37002149C>T	ENST00000379242.3	+	9	1043	c.741C>T	c.(739-741)atC>atT	p.I247I	VIT_ENST00000401530.1_Silent_p.I247I|VIT_ENST00000404084.1_Intron|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Silent_p.I247I|VIT_ENST00000379241.3_Intron	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	247						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCTCAGGTATCCAAAGGCAAG	0.507000													15	62					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51808081	51808081	+	RNA	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51808081C>A	ENST00000456967.1	-	0	1771					NR_038275.1																						GCTGTACGCCCAAAAAGATTA	0.408000													15	113					6.72482e-11	6.84364e-11	1	1	0
DMKN	93099	broad.mit.edu	37	19	36001154	36001154	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36001154C>T	ENST00000339686.3	-	6	1095	c.918_splice	c.e6-1	p.G307_splice	DMKN_ENST00000447113.2_Splice_Site_p.G307_splice|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000418261.1_Splice_Site_p.G307_splice|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000414866.2_Splice_Site_p.G20_splice|DMKN_ENST00000443640.1_Splice_Site_p.G20_splice|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000402589.2_Splice_Site_p.G20_splice|DMKN_ENST00000458071.1_Splice_Site_p.G20_splice|DMKN_ENST00000392206.2_Splice_Site_p.G20_splice|DMKN_ENST00000602781.1_Splice_Site_p.G20_splice|DMKN_ENST00000424570.2_Splice_Site_p.G307_splice|DMKN_ENST00000429837.1_Splice_Site_p.G246_splice|DMKN_ENST00000419602.1_Splice_Site_p.G246_splice|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000480502.1_Splice_Site_p.G20_splice|DMKN_ENST00000440396.1_Splice_Site_p.G307_splice|DMKN_ENST00000451297.2_Splice_Site_p.G307_splice|DMKN_ENST00000436012.1_Splice_Site_p.G20_splice|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000467637.1_Splice_Site_p.G20_splice|DMKN_ENST00000488892.1_Splice_Site_p.G20_splice	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	307	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTGCTGGATCCCTGCAGGGGA	0.577000											OREG0025431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762725	176762725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176762725C>T	ENST00000367662.3	+	20	6214	c.5050C>T	c.(5050-5052)Ccc>Tcc	p.P1684S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTGTAATCCCCCCCAGTGA	0.468000													7	43					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400425	10400425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10400425C>T	ENST00000397077.1	-	13	2526	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	ATP2B2_ENST00000360273.2_Missense_Mutation_p.E696K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E696K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E682K|ATP2B2_ENST00000383800.4_Missense_Mutation_p.E651K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	696					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGTGAGTTCGTTGAGGATG	0.657000													4	36					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149879342	149879342	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149879342G>A	ENST00000369146.3	-	10	2078	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L	SV2A_ENST00000369145.1_Silent_p.L530L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	530					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTTCAAACAGGGAATCCTCA	0.498000													5	45					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72462173	72462173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72462173G>A	ENST00000373208.1	+	3	628	c.628G>A	c.(628-630)Gag>Aag	p.E210K	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.E210K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	210					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTACCGCCGGGAGGCCGTCCA	0.627000													5	66					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322014	18322014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18322014C>T	ENST00000355502.3	-	19	2735	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	PDE4C_ENST00000594465.2_Missense_Mutation_p.D622N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Missense_Mutation_p.D622N|PDE4C_ENST00000447275.2_Missense_Mutation_p.D516N|PDE4C_ENST00000262805.11_Missense_Mutation_p.D590N|PDE4C_ENST00000539010.1_Missense_Mutation_p.D391N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	622					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TCCAGCAGGTCCTGTGCATCT	0.622000													15	55					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127083792	127083792	+	Missense_Mutation	SNP	G	G	A	rs143094065		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127083792G>A	ENST00000373600.3	+	6	666	c.451G>A	c.(451-453)Gag>Aag	p.E151K	NEK6_ENST00000394199.2_Missense_Mutation_p.E151K|NEK6_ENST00000320246.5_Missense_Mutation_p.E117K|NEK6_ENST00000539416.1_Missense_Mutation_p.E142K|NEK6_ENST00000546191.1_Missense_Mutation_p.E117K|NEK6_ENST00000545174.1_Missense_Mutation_p.E117K|NEK6_ENST00000540326.1_Missense_Mutation_p.E135K|NEK6_ENST00000373603.1_Missense_Mutation_p.E117K	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	117	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CGAAGACAACGAGCTGAACAT	0.567000													4	50					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640629	140640629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:140640629G>A	ENST00000509479.2	-	5	4121	c.3265C>T	c.(3265-3267)Cct>Tct	p.P1089S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	1085					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					ACGTCCTGAGGGGCATTCCGC	0.617000													4	61					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032374	74032374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74032374G>A	ENST00000569673.1	-	3	1970	c.766C>T	c.(766-768)Cct>Tct	p.P256S	C15orf59_ENST00000379822.4_Missense_Mutation_p.P256S|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	256										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCTGTTCAGGGGCCAAGGTA	0.617000													9	159					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96180998	96180998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:96180998G>A	ENST00000343702.4	-	2	752	c.304C>T	c.(304-306)Cct>Tct	p.P102S	NTN4_ENST00000344911.4_Missense_Mutation_p.P65S|NTN4_ENST00000538383.1_Missense_Mutation_p.P65S|NTN4_ENST00000553059.1_Missense_Mutation_p.P102S	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	102	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CATGTGCGAGGAAACCGGAAG	0.512000													6	28					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6415775	6415775	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:6415775C>T	ENST00000342245.4	+	6	2002	c.1834C>T	c.(1834-1836)Ctg>Ttg	p.L612L	SMPD1_ENST00000299397.3_Silent_p.L568L|SMPD1_ENST00000356761.2_Silent_p.L556L|SMPD1_ENST00000527275.1_Silent_p.L611L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	610					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTGCCGCCACCTGATGCCAGA	0.647000													9	58					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341692	139341692	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139341692G>A	ENST00000313050.7	-	25	6757	c.6684C>T	c.(6682-6684)ttC>ttT	p.F2228F	SEC16A_ENST00000313084.5_Silent_p.F234F|SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000431893.2_Silent_p.F2050F|SEC16A_ENST00000290037.6_Silent_p.F2050F|SEC16A_ENST00000371706.3_Silent_p.F2050F	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2050					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGGTTGGCACGAACAAGTTAG	0.597000													5	9					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36509116	36509116	+	Silent	SNP	C	C	T	rs145947091	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36509116C>T	ENST00000373191.4	+	17	2590	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	AGO3_ENST00000471099.1_3'UTR|AGO3_ENST00000246314.6_Silent_p.F513F	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3									p.F747F(1)									CATATGAGTTCGATTTTTACC	0.348000													4	40					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29121234	29121234	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29121234G>A	ENST00000382580.2	-	4	645	c.570C>T	c.(568-570)ttC>ttT	p.F190F	CHEK2_ENST00000348295.3_Silent_p.F147F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.F147F|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000328354.6_Silent_p.F147F|CHEK2_ENST00000404276.1_Silent_p.F147F|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000382566.1_Silent_p.F147F|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000402731.1_Silent_p.F147F	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	147					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TACCTACCCTGAAAATCCGAA	0.373000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	87					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38509556	38509556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38509556G>A	ENST00000332509.3	-	15	2323	c.2140C>T	c.(2140-2142)Ccc>Tcc	p.P714S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.P660S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.P660S	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	714					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTCCCAGGGGTTGCTGGGA	0.607000													6	102					0	0	1	0	0
KRT1	3848	broad.mit.edu	37	12	53070916	53070916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53070916G>A	ENST00000252244.3	-	6	1239	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	394	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TTCTATCTTTGAATTTCTCAC	0.418000													11	64					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8008893	8008893	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:8008893C>T	ENST00000537635.1	+	1	457	c.39C>T	c.(37-39)ctC>ctT	p.L13L	EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCTTCTTTCTCGACAAGATGG	0.577000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	167					0	0	1	0	0
GDF5OS	554250	broad.mit.edu	37	20	34022665	34022665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34022665C>T	ENST00000374375.1	+	2	1151	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	GDF5_ENST00000374369.3_Intron|GDF5_ENST00000374372.1_Intron																cervix(1)|endometrium(4)|lung(4)	9						GGCCCCAGCTCTCTCCCCGTC	0.552000													9	42					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009499	201009499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201009499G>A	ENST00000362061.3	-	43	5456	c.5230C>T	c.(5230-5232)Ccc>Tcc	p.P1744S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1725S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1744					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCACCCTGGGGCACTGTTCC	0.547000													4	33					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779345	36779345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779345C>T	ENST00000416516.2	-	2	1296	c.806G>A	c.(805-807)aGg>aAg	p.R269K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	269						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ATGTTTGCTCCTGCTCATGGG	0.587000													5	82					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319018	40319018	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40319018G>T	ENST00000593685.1	-	6	1194	c.726C>A	c.(724-726)ccC>ccA	p.P242P	DYRK1B_ENST00000348817.3_Silent_p.P242P|DYRK1B_ENST00000597639.1_Silent_p.P242P|DYRK1B_ENST00000430012.2_Silent_p.P242P|DYRK1B_ENST00000323039.5_Silent_p.P242P			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	242	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGATGTTTTCGGGCTTGAGGT	0.627000													3	31					0.115264	0.116093	1	1	0
TNXB	7148	broad.mit.edu	37	6	32053854	32053854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32053854G>A	ENST00000375244.3	-	7	3022	c.2821C>T	c.(2821-2823)Cct>Tct	p.P941S	TNXB_ENST00000375247.2_Missense_Mutation_p.P941S			P22105	TENX_HUMAN	tenascin XB	1030	Fibronectin type-III 2.				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						CCTGAGGGAGGAGGCTCATCG	0.622000													15	183					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182616020	182616020	+	Silent	SNP	C	C	T	rs147293552		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182616020C>T	ENST00000483095.2	-	7	650	c.393G>A	c.(391-393)acG>acA	p.T131T	RGS8_ENST00000367557.4_Silent_p.T131T|RGS8_ENST00000258302.4_Silent_p.T149T|RGS8_ENST00000367556.1_Silent_p.T131T			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	131	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T149T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTCTTCCTCGTGGCTTCTC	0.527000													9	98					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24601895	24601895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24601895C>T	ENST00000267426.5	+	2	1031	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	FITM1_ENST00000559294.1_Missense_Mutation_p.H52Y	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	248					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCAGTACACTCACAAGGTGGT	0.612000													5	83					0	0	1	0	0
SOHLH1	402381	broad.mit.edu	37	9	138589431	138589431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:138589431C>T	ENST00000298466.5	-	4	448	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SOHLH1_ENST00000425225.1_Missense_Mutation_p.D130N	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	130					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TGTAAAACATCCTCCTGCAAC	0.507000													4	35					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462877	224462877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:224462877G>A	ENST00000305409.2	-	2	1356	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	375					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P375L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGATCCATTCGGCTTCTCCCC	0.458000													14	43					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315790	45315790	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45315790G>A	ENST00000391955.1	+	4	533	c.489G>A	c.(487-489)gaG>gaA	p.E163E	BCAM_ENST00000270233.6_Silent_p.E163E			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	163	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)				CTGTGATGGAGGACTCTGCCC	0.647000													18	298					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59023011	59023011	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:59023011G>A	ENST00000263093.2	-	1	421	c.312C>T	c.(310-312)atC>atT	p.I104I	SLC27A5_ENST00000601355.1_Silent_p.I104I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	104					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCATCCCCTGATCTTCAGGC	0.647000													3	7					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64853934	64853934	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64853934C>A	ENST00000294258.3	+	4	414	c.262C>A	c.(262-264)Cga>Aga	p.R88R		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	88					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding	p.R88R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAGCTACCCCGAAACACGGC	0.602000													5	234					0.184627	0.185667	1	1	0
TOP1MT	116447	broad.mit.edu	37	8	144398199	144398199	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144398199G>A	ENST00000523676.1	-	12	1539	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	476					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607000													20	87					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603235	37603235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:37603235C>T	ENST00000399151.3	+	14	2238	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	718					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCATCGTCTTCGCCCAGCAGC	0.552000													6	31					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399702	46399702	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46399702C>T	ENST00000292301.4	+	2	1169	c.684C>T	c.(682-684)acC>acT	p.T228T	CCR2_ENST00000400888.2_Silent_p.T228T|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Silent_p.T228T	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	228					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCCTGAAAACCCTGCTTCGGT	0.463000													24	181					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40944371	40944371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40944371C>T	ENST00000373198.3	-	12	2366	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	PTPRT_ENST00000373187.1_Missense_Mutation_p.A711T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A711T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A711T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A711T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A711T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A711T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	711	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTCCATTGGCTTTGCTGAGT	0.468000													7	41					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035517	24035517	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24035517G>A	ENST00000308724.5	-	3	1196	c.441C>T	c.(439-441)ctC>ctT	p.L147L	AP1G2_ENST00000397120.3_Silent_p.L147L|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	147					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGCTGCAGGAGCAGTTTCT	0.592000													6	61					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62241774	62241774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62241774G>A	ENST00000261517.5	-	42	4700	c.4627C>T	c.(4627-4629)Cat>Tat	p.H1543Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.H1543Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H1500Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.H1500Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1543					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTTCCAAATGAAGTACTAAG	0.378000													4	11					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100996263	100996263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100996263G>A	ENST00000335290.6	+	7	1746	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.R507Q|WDR25_ENST00000542471.2_Missense_Mutation_p.R250Q|WDR25_ENST00000554998.1_Missense_Mutation_p.R507Q	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	507										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ACAGCCAGCCGAGCATGCACA	0.677000													7	89					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806084	97806084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:97806084C>T	ENST00000358642.2	+	1	68	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACAGATCGACCATGGCTGCAC	0.423000													11	70					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21123466	21123466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21123466G>A	ENST00000269228.5	-	14	2752	c.2198C>T	c.(2197-2199)cCc>cTc	p.P733L	NPC1_ENST00000412552.2_Missense_Mutation_p.P415L|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	733	SSD.				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAACATACTGGGAGCCACTTC	0.428000													6	77					0	0	1	0	0
RP11-383H13.1	0	broad.mit.edu	37	8	72755804	72755804	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:72755804G>A	ENST00000537896.1	+	1	438	c.168G>A	c.(166-168)ctG>ctA	p.L56L	MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR																lung(1)	1						CCAACGGGCTGACCCTGCCCG	0.627000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528509	27528509	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27528509A>C	ENST00000301904.3	+	6	1482	c.1462A>C	c.(1462-1464)Agc>Cgc	p.S488R	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	488	Collagen-like 1.			S -> I (in Ref. 1; BAA86201).	response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACCCCGGCAGCTTGGGCCC	0.677000													6	73					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990076	22990076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22990076C>T	ENST00000313077.7	+	24	2821	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S899F|CYFIP1_ENST00000435939.2_Missense_Mutation_p.S468F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	899					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTGGCCTACTCCAGCATTTAC	0.547000													5	64					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976151	7976151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7976151C>T	ENST00000545011.1	+	8	1063	c.998C>T	c.(997-999)cCc>cTc	p.P333L	MAP2K7_ENST00000397983.3_Missense_Mutation_p.P307L|MAP2K7_ENST00000397981.3_Missense_Mutation_p.P291L|MAP2K7_ENST00000397979.3_Missense_Mutation_p.P291L			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	291	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CGCATTGACCCCCCAGACCCC	0.706000													6	73					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33484668	33484668	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33484668C>T	ENST00000404816.2	+	13	2762	c.2409C>T	c.(2407-2409)ccC>ccT	p.P803P	LTBP1_ENST00000407925.1_Silent_p.P477P|LTBP1_ENST00000404525.1_Silent_p.P424P|LTBP1_ENST00000402934.1_Silent_p.P424P|LTBP1_ENST00000354476.3_Silent_p.P803P|LTBP1_ENST00000390003.4_Silent_p.P477P|LTBP1_ENST00000418533.2_Silent_p.P477P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	803					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACTGCACCCCCTGAAAAGG	0.289000													14	35					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525572	76525572	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76525572C>T	ENST00000389840.5	-	22	3613	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	DNAH17_ENST00000585328.1_Silent_p.E1160E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAAGTGGATCTCCTCTGGCA	0.597000													15	92					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241402767	241402767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241402767C>T	ENST00000264039.2	+	4	969	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	241					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TCCCCAGGTCCCCCTGGGCCC	0.697000													21	112					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054921	94054921	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:94054921G>A	ENST00000297268.6	+	43	3252		c.e43-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGTCTTCACAGGGCAACCCTG	0.488000										HNSCC(75;0.22)			4	25					0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208036	100208036	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100208036A>G	ENST00000209668.2	-	3	343	c.230T>C	c.(229-231)gTt>gCt	p.V77A	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	77					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCCTTCTCCAACACTCTCCAC	0.502000													23	97					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16670820	16670820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:16670820G>A	ENST00000513610.1	-	39	6152	c.5698C>T	c.(5698-5700)Cgg>Tgg	p.R1900W	MYO10_ENST00000274203.9_Missense_Mutation_p.R1257W|MYO10_ENST00000427430.2_Missense_Mutation_p.R1257W|MYO10_ENST00000515803.1_Missense_Mutation_p.R1239W|MYO10_ENST00000505695.1_Missense_Mutation_p.R1239W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1900	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ACCTTCTGCCGGACCACGGAT	0.562000													10	80					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794808	7794808	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7794808C>T	ENST00000328853.5	-	8	710	c.642G>A	c.(640-642)cgG>cgA	p.R214R		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	214	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CACGCGTGTTCCGAGTGAGGA	0.672000													11	45					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710476	140710476	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140710476C>T	ENST00000517417.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGA1_ENST00000378105.3_Silent_p.F75F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGCTTTTCGCTCTGAATC	0.582000													9	114					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780143	39780143	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39780143G>A	ENST00000518237.1	+	6	1149	c.510G>A	c.(508-510)gtG>gtA	p.V170V	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Silent_p.V170V	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	170					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTCTATTGGTGGAAATAGCAG	0.408000													7	50					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414138	179414138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179414138G>A	ENST00000367618.3	+	16	1984	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D533N	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	533										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTTTACTGGGGATGTTCTACT	0.353000													6	42					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62366600	62366600	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62366600C>T	ENST00000328969.5	+	6	1268	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	ZGPAT_ENST00000448100.1_Silent_p.L361L|ZGPAT_ENST00000369967.3_Silent_p.L361L|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000355969.6_Silent_p.L361L|ZGPAT_ENST00000357119.4_Silent_p.L352L	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	381					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TGTGGAGACCCTGCAGAAGCA	0.677000													4	26					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141415	239141415	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239141415G>A	ENST00000456601.1	+	0	906																											CCCATCGGATGATAACCAAAG	0.527000													4	21					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034751	91034751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91034751C>T	ENST00000268182.5	+	34	4559	c.4435C>T	c.(4435-4437)Cag>Tag	p.Q1479*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q907*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1479	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAACAAATACCAGGAACTGAT	0.502000													5	43					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38652341	38652341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38652341C>T	ENST00000254051.6	-	2	495	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	113					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AAGGTGGGGTCCAGTTCCAGG	0.587000													10	123					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38948707	38948707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38948707G>A	ENST00000216024.2	-	7	661	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	DMC1_ENST00000428462.2_Missense_Mutation_p.R129C	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	129					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTCCAGTACGAAATTCTGTG	0.274000								Homologous recombination					8	52					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513255	4513255	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4513255G>A	ENST00000301286.3	-	3	674	c.675C>T	c.(673-675)tcC>tcT	p.S225S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	225	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGCCCAGTGGACACAGCAT	0.572000													16	145					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562801	179562801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179562801C>T	ENST00000444136.1	+	3	689	c.439C>T	c.(439-441)Cct>Tct	p.P147S	TDRD5_ENST00000367614.1_Missense_Mutation_p.P147S|TDRD5_ENST00000294848.8_Missense_Mutation_p.P147S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	147	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GGCGTTATCTCCTGTTCTTCT	0.433000													8	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9080501C>T	ENST00000397910.4	-	2	9733	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGGAATTTCCTTGTGCTGC	0.498000													5	46					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033191	52033191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52033191C>T	ENST00000346477.3	-	4	819	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G278S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G215S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.G256S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G267S|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G267S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	267	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGCCTGGCCCTCCAGGACA	0.602000													15	117					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111235	81111235	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81111235C>T	ENST00000228644.3	+	1	545	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592000													9	83					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334806	142334806	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142334806C>T	ENST00000390394.3	+	0	306																											AGCAAGGCGTCGAGAAGGACA	0.512000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	38					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8654160	8654160	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8654160G>A	ENST00000270328.4	-	17	2390	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	ADAMTS10_ENST00000595838.1_Silent_p.I195I|ADAMTS10_ENST00000597188.1_Silent_p.I708I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	708	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGACGCCCTCGATGGTCTCGC	0.667000													6	75					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668259	10668259	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10668259A>C	ENST00000312962.6	-	16	1623	c.1604T>G	c.(1603-1605)gTg>gGg	p.V535G	KRI1_ENST00000361821.5_Missense_Mutation_p.V531G	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	535										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GTCACAGGGCACCACTGTGCG	0.617000													19	67					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196754651	196754651	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:196754651G>A	ENST00000296350.5	-	2	293	c.180C>T	c.(178-180)gcC>gcT	p.A60A	MFI2_ENST00000296351.4_Silent_p.A60A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	60	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGCAGTGGTCGGCGGAGGTGC	0.662000													4	10					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905650	2905650	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2905650G>A	ENST00000161006.3	-	4	549	c.484C>T	c.(484-486)Cta>Tta	p.L162L	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	162	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCATCAGGTAGGCAGATGGGC	0.592000													9	72					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126506	205126506	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205126506C>A	ENST00000367162.3	-	10	2277	c.2247G>T	c.(2245-2247)ctG>ctT	p.L749L	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.L749L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	749	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCTCCAGGGTCAGCCCAGCCT	0.473000													5	25					0.0215528	0.0217323	1	1	0
TNFRSF17	608	broad.mit.edu	37	16	12061600	12061600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:12061600G>A	ENST00000053243.1	+	3	669	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RP11-166B2.1_ENST00000532936.1_Intron|TNFRSF17_ENST00000396495.3_Missense_Mutation_p.E102K	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	151					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						AGCTATGGAGGAAGGCGCAAC	0.498000			T	IL2	intestinal T-cell lymphoma								10	46					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107811878	107811878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107811878G>A	ENST00000328300.6	+	5	540	c.296G>A	c.(295-297)gGa>gAa	p.G99E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G99E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	99	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGATTTCCAGGG	0.323000									Alport syndrome with Diffuse Leiomyomatosis				6	19					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541018	187541018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187541018G>A	ENST00000441802.2	-	10	6931	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2241	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AAAGTCCAGAGGAGCTATGAC	0.493000										HNSCC(5;0.00058)			7	135					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940670	113940670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113940670G>A	ENST00000245796.6	+	2	832	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PSD4_ENST00000441564.2_Missense_Mutation_p.E213K	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	213					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGACTCAGGGGAAGACAGCAG	0.632000													6	46					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30611337	30611337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:30611337G>A	ENST00000358107.4	-	7	1591	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000263063.3_Missense_Mutation_p.S401F			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	401					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGTTTTTAAGGAATCTAGTGT	0.368000													6	56					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671746	49671746	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671746C>T	ENST00000561648.1	-	4	1370	c.1317G>A	c.(1315-1317)caG>caA	p.Q439Q	ZNF423_ENST00000562871.1_Silent_p.Q379Q|ZNF423_ENST00000563137.2_Silent_p.Q379Q|ZNF423_ENST00000562520.1_Silent_p.Q379Q|ZNF423_ENST00000262383.2_Silent_p.Q439Q|ZNF423_ENST00000535559.1_Silent_p.Q322Q|ZNF423_ENST00000567169.1_Silent_p.Q322Q	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	439					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATGTGTGGCTCTGCTGGGGCT	0.572000													5	65					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121240877	121240877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121240877G>A	ENST00000264233.5	-	8	1356	c.1228C>T	c.(1228-1230)Cca>Tca	p.P410S	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	410	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACTCCCCATGGTACAGTTTTC	0.363000								DNA polymerases (catalytic subunits)					5	66					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319298	37319298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37319298C>T	ENST00000373091.3	-	8	1146	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R377Q	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	377					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAAAACAATTCGTCCAGTTAA	0.498000													17	44					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7082959	7082959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7082959C>T	ENST00000414706.1	+	8	970	c.497C>T	c.(496-498)tCc>tTc	p.S166F	ZNF557_ENST00000439035.2_Missense_Mutation_p.S159F|ZNF557_ENST00000252840.6_Missense_Mutation_p.S166F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ACAAAATCTTCCCTTACACGG	0.408000													6	14					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44605609	44605609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44605609G>A	ENST00000258772.5	-	14	1742	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	DDX56_ENST00000431640.1_Missense_Mutation_p.P506S|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	546					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CCTCAGGAGGGCTTGGCTGTG	0.557000											OREG0018039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	40					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890509	22890509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22890509G>A	ENST00000543184.1	-	5	2372	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S	PRAME_ENST00000398743.2_Missense_Mutation_p.P504S|PRAME_ENST00000398741.1_Missense_Mutation_p.P504S|PRAME_ENST00000405655.3_Missense_Mutation_p.P504S|PRAME_ENST00000402697.1_Missense_Mutation_p.P504S|PRAME_ENST00000539862.1_Missense_Mutation_p.P488S|PRAME_ENST00000424204.2_Missense_Mutation_p.P488S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	504	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATGAAACAGGGGCACAGGATG	0.532000													19	158					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145727	25145727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25145727C>T	ENST00000332271.5	-	10	1565	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*	PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.W274*|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.W274*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	383	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGCCCTTTTTCCATCTGCCCT	0.468000													5	25					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629116	19629116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:19629116G>A	ENST00000299295.2	+	2	761	c.370G>A	c.(370-372)Gga>Aga	p.G124R	CHODL_ENST00000400127.1_Missense_Mutation_p.G83R|CHODL_ENST00000400128.1_Missense_Mutation_p.G83R|CHODL_ENST00000400135.1_Missense_Mutation_p.G83R|CHODL_ENST00000338326.3_Missense_Mutation_p.G83R|CHODL_ENST00000543733.1_Missense_Mutation_p.G105R|CHODL_ENST00000400131.1_Missense_Mutation_p.G83R	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	124	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GTGGTCTGATGGAAGCAATTC	0.517000													5	26					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178165	142178165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142178165G>A	ENST00000519811.1	+	13	1886	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	DENND3_ENST00000262585.2_Missense_Mutation_p.E526K|DENND3_ENST00000424248.1_Missense_Mutation_p.E474K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	526										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTCCGCTGGAGAGCAAGTG	0.532000													6	107					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484391	45484391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45484391C>T	ENST00000359600.5	-	14	3498	c.3293G>A	c.(3292-3294)gGa>gAa	p.G1098E		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1098							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CATGAGCTTTCCAGAGCTTCG	0.552000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	54					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6127746	6127746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6127746G>A	ENST00000261405.5	-	28	5092	c.4838C>T	c.(4837-4839)tCt>tTt	p.S1613F		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1613	VWFA 2.		S -> P (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATCTCATCAGAGGCAGGATT	0.607000													13	57					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515128	47515128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47515128C>T	ENST00000371901.3	+	11	1557	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.S435F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	436						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGGAGAATTCTGATCAGAGA	0.448000													5	30					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445249	92445249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92445249G>A	ENST00000370389.2	+	8	1927	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	BRDT_ENST00000402388.1_Missense_Mutation_p.E408K|BRDT_ENST00000394530.3_Missense_Mutation_p.E362K|BRDT_ENST00000399546.2_Missense_Mutation_p.E408K|BRDT_ENST00000362005.3_Missense_Mutation_p.E408K	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	408	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCCTCCTCTGAAGGGAACTC	0.393000													7	79					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045735	124045735	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124045735C>T	ENST00000368994.2	+	5	611	c.360C>T	c.(358-360)ccC>ccT	p.P120P	BTBD16_ENST00000260723.4_Silent_p.P119P			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	119										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCACACACCCCCTGAGGGAGC	0.617000													5	88					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1944290	1944290	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1944290G>A	ENST00000381558.1	+	3	309	c.31_splice	c.e3+1	p.E10_splice	TNNT3_ENST00000381589.3_Splice_Site_p.E10_splice|TNNT3_ENST00000397301.1_Splice_Site_p.E10_splice|TNNT3_ENST00000381548.3_Splice_Site_p.E10_splice|TNNT3_ENST00000397304.2_Splice_Site_p.E10_splice|TNNT3_ENST00000360603.3_Splice_Site_p.E10_splice|TNNT3_ENST00000446240.1_Splice_Site_p.E10_splice|TNNT3_ENST00000381549.3_Splice_Site_p.E10_splice|TNNT3_ENST00000381561.4_Splice_Site_p.E10_splice|TNNT3_ENST00000381579.3_Splice_Site_p.E10_splice|TNNT3_ENST00000278317.6_Splice_Site_p.E10_splice			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	10					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AACAGGTGGAGGGTAAGTGTA	0.532000													10	132					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56094368	56094368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56094368G>A	ENST00000426658.2	-	3	1481	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	CTCFL_ENST00000371196.2_Missense_Mutation_p.R274C|CTCFL_ENST00000539382.1_Missense_Mutation_p.R69C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R12C|CTCFL_ENST00000243914.3_Missense_Mutation_p.R274C|CTCFL_ENST00000429804.2_Missense_Mutation_p.R274C|CTCFL_ENST00000433949.2_Missense_Mutation_p.R274C|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422109.2_Missense_Mutation_p.R274C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R274C|CTCFL_ENST00000422869.2_Missense_Mutation_p.R274C			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	274					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTCATATGACGATTAAAACTT	0.443000													12	70					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68024756	68024756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:68024756G>A	ENST00000412757.2	-	8	1542	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	DPEP2_ENST00000393847.1_Missense_Mutation_p.R293W|DPEP2_ENST00000572888.1_Missense_Mutation_p.R293W			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	293					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GGAACATTCCGAGCACTGTTG	0.587000													6	154					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885547	180885547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180885547C>T	ENST00000367588.4	+	2	363	c.308C>T	c.(307-309)cCc>cTc	p.P103L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	103										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGAGTCCCTGCTCTGCT	0.592000													25	66					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119445065	119445065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119445065G>A	ENST00000273390.5	+	7	807	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GATAGAAAGAGCCCGCGAGAA	0.547000													3	9					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24768670	24768670	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24768670C>T	ENST00000003912.3	+	5	757	c.42C>T	c.(40-42)ttC>ttT	p.F14F	NIPAL3_ENST00000428131.1_Silent_p.F96F|NIPAL3_ENST00000374399.4_Silent_p.F96F|NIPAL3_ENST00000358028.4_Silent_p.F96F|NIPAL3_ENST00000339255.2_Silent_p.F96F			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	96						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CCTACGCCTTCGCGCCGCTGT	0.632000													25	105					0	0	1	0	0
SRL	6345	broad.mit.edu	37	16	4253225	4253225	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4253225G>A	ENST00000399609.3	-	3	213	c.201C>T	c.(199-201)tcC>tcT	p.S67S	SRL_ENST00000537996.1_Silent_p.S25S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	526	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GAGGCTTGATGGATGAGTGGT	0.567000													7	100					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156126	160156126	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160156126C>T	ENST00000368081.4	+	21	3501	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	ATP1A4_ENST00000470705.1_Silent_p.I146I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	1010				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGATGAAATCAGAAAACTCC	0.562000													28	220					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191151	68191151	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68191151C>A	ENST00000294304.7	+	14	3328	c.3222C>A	c.(3220-3222)gtC>gtA	p.V1074V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1074	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCGTCGTCAACGCGGAGC	0.687000													4	63					0.00909568	0.00917922	1	1	0
PLAC8L1	153770	broad.mit.edu	37	5	145464086	145464086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145464086G>A	ENST00000311450.4	-	4	500	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	148										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGCAGATGGAAAAAGCCCA	0.517000													16	66					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133142181	133142181	+	Silent	SNP	C	C	T	rs142082768	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133142181C>T	ENST00000388996.4	-	15	2367	c.1947G>A	c.(1945-1947)cgG>cgA	p.R649R	KCNQ3_ENST00000521134.1_Silent_p.R529R|KCNQ3_ENST00000519445.1_Silent_p.R637R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	649					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCACCTGCAACCGTTCCATGT	0.498000													10	70					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918850	52918850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52918850C>T	ENST00000360465.3	+	7	1171	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATGTGGCAAGCTCTTCAGTAG	0.403000													6	38					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151673660	151673660	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151673660G>A	ENST00000402676.2	+	4	4374	c.4134G>A	c.(4132-4134)gtG>gtA	p.V1378V	AKAP12_ENST00000359755.5_Silent_p.V1273V|AKAP12_ENST00000354675.6_Silent_p.V1280V|AKAP12_ENST00000253332.1_Silent_p.V1378V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1378					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TCCAGACAGTGAATGTGCCCA	0.498000													7	38					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48563046	48563046	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48563046G>A	ENST00000232375.3	-	10	1156	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000416568.1_Silent_p.F341F|PFKFB4_ENST00000541519.1_Silent_p.F314F|PFKFB4_ENST00000536104.1_Silent_p.F337F|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	348	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCGCAGGGCGAACTCCAGTG	0.562000													4	38					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774621	121774621	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:121774621G>A	ENST00000264808.3	-	3	492	c.252C>T	c.(250-252)ttC>ttT	p.F84F	PRDM5_ENST00000515109.1_Silent_p.F84F|PRDM5_ENST00000394435.2_Silent_p.F84F|PRDM5_ENST00000428209.2_Silent_p.F84F	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	84	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCATGAACGAAGCGAAGCC	0.468000													18	139					0	0	1	0	0
ARL6IP5	10550	broad.mit.edu	37	3	69151146	69151146	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69151146C>T	ENST00000273258.3	+	2	437	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	111					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGAGCTATTTCCTTATCTCCA	0.453000													4	38					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505576	55505576	+	Silent	SNP	C	C	T	rs66498769		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55505576C>T	ENST00000302118.5	+	1	356	c.66C>T	c.(64-66)ctC>ctT	p.L22L	PCSK9_ENST00000452118.2_Silent_p.L22L	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	22					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						tgctgctgctcctgGGTCCCG	0.706000													12	183					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993646	72993646	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72993646G>A	ENST00000268489.5	-	2	1071	c.399C>T	c.(397-399)atC>atT	p.I133I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	133					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGACGATCTCCCCGG	0.711000													5	62					0	0	1	0	0
SAE1	10055	broad.mit.edu	37	19	47673089	47673089	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47673089C>T	ENST00000413379.3	+	6	744	c.642C>T	c.(640-642)tgC>tgT	p.C214C	SAE1_ENST00000392776.3_Silent_p.C214C|SAE1_ENST00000270225.7_Silent_p.C214C|SAE1_ENST00000540850.1_Silent_p.C40C|SAE1_ENST00000598840.1_Silent_p.C133C	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	214					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TGGTCTTCTGCCCTGTTAAAG	0.483000													10	92					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75109255	75109255	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75109255C>T	ENST00000290573.2	+	12	2328	c.1728C>T	c.(1726-1728)gaC>gaT	p.D576D	HK2_ENST00000409174.1_Silent_p.D548D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	576	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGCTCTTTGACCACATTGTCC	0.587000													12	77					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803006	157803006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157803006C>T	ENST00000368174.4	-	5	1111	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	339	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACATCTTCCTGGTGGGTG	0.542000													14	73					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396945	36396945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36396945G>A	ENST00000317020.6	-	2	580	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	KIAA0895_ENST00000297063.6_Missense_Mutation_p.R145C|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000415803.2_Missense_Mutation_p.R132C|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R94C|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R132C|KIAA0895_ENST00000480192.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	145										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTTTGCTACGAGAAGTGTTA	0.468000													7	35					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322618	55322618	+	Missense_Mutation	SNP	G	G	A	rs72140406		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55322618G>A	ENST00000314644.2	+	1	836	c.836G>A	c.(835-837)aGa>aAa	p.R279K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCTCTCTGAGAACACACAGT	0.443000										HNSCC(20;0.049)			4	63					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208483	138208483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:138208483G>A	ENST00000409968.1	+	15	3206	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G979R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1010R					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)		GTCTAGTTGGGGGTCTTGCAG	0.403000													4	18					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243729	1243729	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1243729G>A	ENST00000324642.3	+	9	1314	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	SLC6A18_ENST00000296821.4_Silent_p.P326P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	397					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCACATGCCGGGGGCTCCTG	0.657000													7	78					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74915493	74915493	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:74915493C>T	ENST00000289575.5	+	14	2393	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SLCO2B1_ENST00000428359.2_Silent_p.F644F|SLCO2B1_ENST00000341411.4_Silent_p.F439F|SLCO2B1_ENST00000454962.2_Silent_p.F439F|SLCO2B1_ENST00000532236.1_Silent_p.F550F|SLCO2B1_ENST00000525650.1_Silent_p.F522F	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	666					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGATCTGCTTCGCCTTAGTTT	0.552000													4	65					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585837	51585837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51585837G>A	ENST00000391802.1	-	3	301	c.83C>T	c.(82-84)gCt>gTt	p.A28V	KLK14_ENST00000156499.2_Missense_Mutation_p.A28V	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	28					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CTTACCTATAGCCAGGACTTG	0.532000													5	76					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160901537	160901537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160901537G>A	ENST00000283243.7	-	2	447	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.L81F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	81	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGTTAAAGAGGCCATGGTTT	0.483000													5	46					0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4995279	4995279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4995279G>A	ENST00000318833.3	+	2	816	c.480G>A	c.(478-480)atG>atA	p.M160I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCCAGCATATGAGAGTTCATA	0.398000													4	47					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1376566	1376566	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1376566C>T	ENST00000311401.5	+	14	2306	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	MUM1_ENST00000415183.3_3'UTR|MUM1_ENST00000344663.3_Silent_p.R709R|MUM1_ENST00000591806.1_Silent_p.R709R|MUM1_ENST00000591453.1_3'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	708					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACCGGCGCCGTCGGTGAG	0.537000													14	70					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864557	4864557	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:4864557C>A	ENST00000382723.4	+	2	833	c.599C>A	c.(598-600)gCc>gAc	p.A200D	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	194					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGTCCATCGCCGAGCGCGCG	0.622000													11	59					0.00136819	0.00138213	1	1	0
OVOL1	5017	broad.mit.edu	37	11	65562600	65562600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65562600G>A	ENST00000335987.3	+	4	944	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	OVOL1_ENST00000532448.1_Missense_Mutation_p.G136S	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	198					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GAAGATCCATGGTGTGCAGCA	0.622000													6	42					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637241	60637241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60637241G>A	ENST00000278853.5	+	3	550	c.550G>A	c.(550-552)Gac>Aac	p.D184N		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	184					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCCCACTGGACCCAGGGCA	0.627000													4	25					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767784	181767784	+	Silent	SNP	C	C	T	rs35105143		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181767784C>T	ENST00000526775.1	+	46	6735	c.6570C>T	c.(6568-6570)ttC>ttT	p.F2190F	CACNA1E_ENST00000358338.5_Silent_p.F2141F|CACNA1E_ENST00000367573.2_Silent_p.F2252F|CACNA1E_ENST00000357570.5_Silent_p.F2203F|CACNA1E_ENST00000360108.3_Silent_p.F2233F|CACNA1E_ENST00000367567.4_Silent_p.F1816F|CACNA1E_ENST00000367570.1_Silent_p.F2209F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2252					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCTCACTTTCGAAGCAGCCG	0.642000													7	8					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60970872	60970872	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:60970872C>T	ENST00000335670.6	-	2	280	c.180G>A	c.(178-180)acG>acA	p.T60T	RORA_ENST00000560004.1_5'UTR	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTGTCTTCTTCGTTACTGAGA	0.413000													5	9					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2333322	2333322	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2333322G>A	ENST00000301732.5	-	26	4600	c.3900C>T	c.(3898-3900)gcC>gcT	p.A1300A	ABCA3_ENST00000382381.3_Silent_p.A1242A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1300					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)				CGACCCCCGGGGCGCTCCAGG	0.652000													11	51					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109678	228109678	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228109678G>A	ENST00000272164.5	-	4	649	c.639C>T	c.(637-639)acC>acT	p.T213T	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	213					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACTTGCAGGTGGTCTCCACCC	0.652000													6	50					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611004	44611004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44611004C>T	ENST00000336976.6	+	6	945	c.691C>T	c.(691-693)Ccg>Tcg	p.P231S	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	231					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TGGAGAGAAACCGTTCAAATG	0.423000													11	71					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263163	55263163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55263163C>T	ENST00000342376.3	+	6	809	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		cttcatcctcctcctcttctt	0.502000													6	78					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367222	3367222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3367222C>T	ENST00000574298.1	+	6	717	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						TGAAAATCATCAGCCTGTGTC	0.373000													11	57					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098483	144098483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:144098483G>A	ENST00000467773.1	-	4	499	c.500C>T	c.(499-501)cCc>cTc	p.P167L	NOBOX_ENST00000223140.5_Missense_Mutation_p.P82L|NOBOX_ENST00000483238.1_Missense_Mutation_p.P167L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	167					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTCTTTGTGGGGAGCCCTGGA	0.612000													4	34					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89357214	89357214	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89357214G>A	ENST00000301030.4	-	6	880	c.420C>T	c.(418-420)ccC>ccT	p.P140P	ANKRD11_ENST00000378330.2_Silent_p.P140P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	140						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGACTGGGAGGGGTGCTTTG	0.552000													8	85					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3389976	3389976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3389976C>T	ENST00000378378.4	+	8	1600	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	ARHGEF16_ENST00000378371.2_Nonsense_Mutation_p.R111*|ARHGEF16_ENST00000378373.1_Nonsense_Mutation_p.R111*|ARHGEF16_ENST00000413250.2_Nonsense_Mutation_p.R103*	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	399	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGCCGCCTTCCGAGAGGCCCT	0.652000													7	83					0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124732234	124732234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:124732234G>A	ENST00000311127.4	-	6	2256	c.2189C>T	c.(2188-2190)cCa>cTa	p.P730L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	730	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACAGAAAGTGGGGCAGATGT	0.488000													5	111					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094044	79094044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79094044G>A	ENST00000326724.4	-	11	3716	c.3692C>T	c.(3691-3693)gCc>gTc	p.A1231V	AATK_ENST00000417379.1_Missense_Mutation_p.A1128V	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1231						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAGGACACGGCCTTCTTCTT	0.677000													4	35					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32262225	32262225	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32262225T>A	ENST00000360482.2	-	10	2366	c.2237A>T	c.(2236-2238)gAc>gTc	p.D746V	SPOCD1_ENST00000257100.3_Missense_Mutation_p.D239V|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D746V	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	746					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGTCCATGTCCCGCTGAAT	0.592000													19	145					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65858423	65858423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65858423C>T	ENST00000395325.3	+	12	1764	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	DNAJC6_ENST00000263441.7_Missense_Mutation_p.P523L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P593L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	536	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GCAGCTGGTCCCACCCAGGCT	0.587000													3	13					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130258	19130258	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19130258G>A	ENST00000252137.6	-	2	328	c.285C>T	c.(283-285)tcC>tcT	p.S95S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	95					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGGGCTCCCGGGACATCTTGC	0.587000													10	135					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1961227	1961227	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1961227C>T	ENST00000382895.3	+	19	3446	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I	WHSC1_ENST00000382888.3_Silent_p.I353I|WHSC1_ENST00000382891.5_Silent_p.I1005I|WHSC1_ENST00000508803.1_Silent_p.I1005I|WHSC1_ENST00000382892.2_Silent_p.I1005I|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1005					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAGTCCAGATCTACACAGCGG	0.493000			T	IGH@	MM								7	32					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838541	22838541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22838541G>A	ENST00000404138.1	+	12	2886	c.2375G>A	c.(2374-2376)gGt>gAt	p.G792D	ZBTB40_ENST00000374651.4_Missense_Mutation_p.G680D|ZBTB40_ENST00000375647.4_Missense_Mutation_p.G792D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	792					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CATGGTGCAGGTGGAGAGCCC	0.532000													4	55					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161118948	161118948	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:161118948G>A	ENST00000523217.1	+	8	1040	c.796_splice	c.e8-1	p.G266_splice	GABRA6_ENST00000274545.5_Splice_Site_p.G276_splice	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTAGGGATCACCACTG	0.388000										TCGA Ovarian(5;0.080)			4	52					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15850300	15850300	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15850300G>A	ENST00000338282.6	-	14	1753	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	MYH11_ENST00000576790.1_Silent_p.F549F|MYH11_ENST00000452625.2_Silent_p.F556F|MYH11_ENST00000396324.3_Silent_p.F556F|MYH11_ENST00000300036.5_Silent_p.F549F	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	549	Myosin head-like.				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						GCTTCTCCACGAAAGACTTGT	0.562000			T	CBFB	AML						OREG0023636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146467	10146467	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10146467C>T	ENST00000450660.2	-	2	209		c.e2-1		FANCD2OS_ENST00000524279.1_Splice_Site	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		ATTGACAGTCCTAAAGGAGGG	0.488000													4	64					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63679817	63679817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63679817C>T	ENST00000301459.4	-	11	1604	c.1217G>A	c.(1216-1218)gGg>gAg	p.G406E		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CAATGGAGCCCCTCTCCTAGC	0.652000													9	100					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757817	219757817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219757817C>T	ENST00000258411.3	+	4	1711	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	360			R -> C (found in a patient with unclassified form of ectodermal dysplasia).		anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGGCCGCCTGTGCAA	0.726000													12	29					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3686416	3686416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3686416G>A	ENST00000294600.2	+	11	1897	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	605										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTTGGCCAACGAGATCTCTGA	0.557000													22	109					0	0	1	0	0
SGPP2	130367	broad.mit.edu	37	2	223339386	223339386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:223339386C>T	ENST00000321276.7	+	2	405	c.319C>T	c.(319-321)Cca>Tca	p.P107S		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	107					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CACGTTTCTTCCATTCACTCA	0.353000													5	54					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48142402	48142402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48142402C>T	ENST00000311303.3	-	17	2665	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	ABCC12_ENST00000448542.1_Missense_Mutation_p.E771K|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	774						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ACGGTTCCTTCCTGGGGGGAT	0.473000													6	74					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	19997210	19997210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:19997210C>T	ENST00000400230.2	-	20	1605	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	TPTE2_ENST00000457266.2_Missense_Mutation_p.E410K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E444K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E444K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E521K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E410K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E481K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E481K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	521	C2 tensin-type.			E -> K (in Ref. 1; CAD13144 and 2; AAP45146).		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGTCATTTCTCGCCAAAAAGT	0.408000													4	25					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165370563	165370563	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165370563G>A	ENST00000359842.5	-	10	1631	c.1329C>T	c.(1327-1329)atC>atT	p.I443I		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	443	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGGTGTCCCCGATGAGCTTGA	0.602000													20	95					0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692059	12692059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12692059G>A	ENST00000311437.6	-	5	952	c.830C>T	c.(829-831)cCc>cTc	p.P277L		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						ACATTTGTAGGGTTTCTCTCC	0.418000													10	54					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078770	170078770	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:170078770C>T	ENST00000458537.3	+	1	1360	c.651C>T	c.(649-651)tcC>tcT	p.S217S	SKIL_ENST00000259119.4_Silent_p.S217S|SKIL_ENST00000426052.2_Silent_p.S197S|SKIL_ENST00000413427.2_Silent_p.S217S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	217					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGCCCCATCCTGTGGGCTGA	0.403000													6	62					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613365	61613365	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61613365C>T	ENST00000583023.1	+	6	1448	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	KCNH6_ENST00000456941.2_Silent_p.F426F|KCNH6_ENST00000314672.5_Silent_p.F479F|KCNH6_ENST00000580652.1_Silent_p.F479F|KCNH6_ENST00000581784.1_Silent_p.F426F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	479					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCGTGGGCTTCGGCAATGTCT	0.597000													8	66					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675320	31675320	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31675320C>T	ENST00000503322.1	+	2	141	c.138C>T	c.(136-138)caC>caT	p.H46H	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Silent_p.H46H|LY6G6F_ENST00000556581.1_Silent_p.H46H																							GGGACGAACACCTGTCATGGT	0.602000													53	309					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812843	2812843	+	Missense_Mutation	SNP	C	C	T	rs142703288		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2812843C>T	ENST00000301740.8	+	11	2863	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	772	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCAAAATCTCGCTTGTCTTT	0.512000													15	201					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44280756	44280756	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44280756C>T	ENST00000262888.3	-	2	587	c.192G>A	c.(190-192)acG>acA	p.T64T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	64					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AAATGCTGATCGTGCATTTAA	0.597000													5	53					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370908	240370908	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240370908C>T	ENST00000319653.9	+	5	3026	c.2796C>T	c.(2794-2796)ctC>ctT	p.L932L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	932	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.L1075L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGGCATACTCCCTCTGCCCC	0.692000													5	45					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43612101	43612101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43612101G>A	ENST00000355710.3	+	12	2438	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R	RET_ENST00000340058.5_Missense_Mutation_p.G736R	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	736	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGGCGAATTTGGAAAAGTGGT	0.517000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				20	171					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368550	20368550	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20368550G>A	ENST00000593655.1	-	0	199																											GAGCAGGAAGGTGGTGGTGTG	0.542000													5	38					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009651	9009651	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9009651C>T	ENST00000397910.4	-	39	39278	c.39075G>A	c.(39073-39075)ggG>ggA	p.G13025G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13027	SEA 7.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATGTCCTCCCCATACTGCA	0.552000													8	43					0	0	1	0	0
SNX11	29916	broad.mit.edu	37	17	46190722	46190722	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46190722C>T	ENST00000393405.2	+	5	543	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNX11_ENST00000359238.2_Silent_p.F63F|SNX11_ENST00000582104.1_Silent_p.F55F|SNX11_ENST00000580219.1_Silent_p.F55F|SNX11_ENST00000439357.2_Intron|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000452859.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	63	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						ACCGTGAGTTCGTGTGGCTGA	0.478000													23	217					0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027073	38027073	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38027073G>A	ENST00000377940.3	+	2	317		c.e2+1		ZPBP2_ENST00000348931.4_Splice_Site|ZPBP2_ENST00000584588.1_Splice_Site	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2						binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACGTTAACAGGTAAATTTGAT	0.279000													5	28					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33704213	33704213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:33704213C>T	ENST00000336934.5	-	5	717	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	STARD13_ENST00000255486.4_Missense_Mutation_p.E193K|STARD13_ENST00000399365.3_Missense_Mutation_p.E83K	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	201					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCACTGCTTTCGCTGTGAATG	0.627000													6	24					0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27238898	27238898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27238898C>T	ENST00000222753.4	-	1	827	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	267					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCCAAGGGTTCGTGGCGCGAC	0.677000			T	NUP98	AML								4	39					0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138967807	138967807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138967807C>T	ENST00000288561.8	+	15	2156	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	UBN2_ENST00000473989.2_Missense_Mutation_p.S719F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	719										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACTCCAACATCCCTGGTGGCT	0.443000													4	22					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108107858	108107858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:108107858C>T	ENST00000273353.3	-	39	5610	c.5554G>A	c.(5554-5556)Gcc>Acc	p.A1852T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1852						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTGCGGGCTCCCCTCTGG	0.552000													5	31					0	0	1	0	0
ARL13B	200894	broad.mit.edu	37	3	93758803	93758803	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:93758803T>G	ENST00000535334.1	+	5	983	c.460T>G	c.(460-462)Ttc>Gtc	p.F154V	ARL13B_ENST00000303097.7_Missense_Mutation_p.F150V|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000394222.3_Missense_Mutation_p.F257V|ARL13B_ENST00000471138.1_Missense_Mutation_p.F257V	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	257							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AACGAATCCTTTCCAGCCAAT	0.393000													5	46					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575771	12575771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12575771G>A	ENST00000397732.3	-	4	1136	c.965C>T	c.(964-966)tCc>tTc	p.S322F	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.S322F	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTTTCTAAAGGAACTAGGAAA	0.373000													4	31					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084834	53084834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:53084834G>A	ENST00000276480.7	-	10	1270	c.587C>T	c.(586-588)tCt>tTt	p.S196F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCACTTTCAGAGTTACTTTC	0.423000													11	57					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141443402	141443402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141443402C>T	ENST00000481508.1	+	4	562	c.127C>T	c.(127-129)Cct>Tct	p.P43S	SSBP1_ENST00000498107.1_Missense_Mutation_p.P43S|SSBP1_ENST00000465582.1_Missense_Mutation_p.P43S|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.P43S|SSBP1_ENST00000265304.6_Missense_Mutation_p.P43S	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	43	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					GGGTCAGGACCCTGTCTTGAG	0.463000													16	71					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144700	44144700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44144700G>A	ENST00000398776.1	+	11	1240	c.1202G>A	c.(1201-1203)aGa>aAa	p.R401K	CAPN11_ENST00000542245.1_Missense_Mutation_p.R401K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	401	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCTGGCGCAGAGGCAGCTCC	0.632000													32	182					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530148	5530148	+	Missense_Mutation	SNP	G	G	A	rs146605906	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5530148G>A	ENST00000311659.4	-	2	788	c.641C>T	c.(640-642)cCg>cTg	p.P214L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	214										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATAATTTCCGGGTTGTTAAG	0.512000													9	95					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796870	127796870	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127796870C>T	ENST00000556132.1	-	6	3165	c.2301G>A	c.(2299-2301)cgG>cgA	p.R767R	SOGA3_ENST00000465909.2_Silent_p.R767R|SOGA3_ENST00000368268.2_Silent_p.R767R|SOGA3_ENST00000481848.2_Silent_p.R767R|SOGA3_ENST00000525778.1_Silent_p.R767R	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	767						integral to membrane		p.R767R(1)									GGTGCGGAGGCCGCGAGTCGT	0.721000													5	59					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389742	129389742	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129389742G>A	ENST00000393238.3	-	4	1282	c.942C>T	c.(940-942)atC>atT	p.I314I	TMCC1_ENST00000432054.2_5'UTR|TMCC1_ENST00000329333.5_Silent_p.I135I|TMCC1_ENST00000426664.2_Silent_p.I200I	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	314						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCCGGGGGATCCCATTCT	0.507000													10	64					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101987	9101987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9101987G>A	ENST00000377424.4	-	5	607	c.428C>T	c.(427-429)tCc>tTc	p.S143F	SLC2A5_ENST00000377414.3_Missense_Mutation_p.S143F|SLC2A5_ENST00000535586.1_Missense_Mutation_p.S28F|SLC2A5_ENST00000536305.1_Missense_Mutation_p.S84F	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	143					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GACCACGTTGGAAGATACACC	0.498000													3	19					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117924	58117924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58117924C>T	ENST00000332854.6	+	3	1251	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACAGGAGTGCCCACACTAGC	0.463000													5	67					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105653376	105653376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:105653376G>A	ENST00000542731.1	+	9	1231	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	CDHR3_ENST00000541203.1_3'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.D287N|CDHR3_ENST00000343407.5_Missense_Mutation_p.D92N|CDHR3_ENST00000317716.9_Missense_Mutation_p.D375N			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	375	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTTTGATGATGACAGTGAGGC	0.483000													33	142					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46916759	46916759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46916759C>T	ENST00000378623.1	-	11	1509	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	423	EGF-like 2; calcium-binding (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTTCATAGCCTGTTTCACAC	0.612000													4	66					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219364	35219364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35219364C>T	ENST00000373874.2	+	3	443	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	TGIF2_ENST00000373872.4_Missense_Mutation_p.R82W|TGIF2-C20orf24_ENST00000558530.1_Intron|RP5-977B1.11_ENST00000561134.1_RNA	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	82						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGACATGCTTCGGAAGGATGG	0.532000													27	233					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542183	133542183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133542183C>T	ENST00000409261.1	-	14	2574	c.2201G>A	c.(2200-2202)aGg>aAg	p.R734K	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R734K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	734							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						CTCTTCAGACCTTTTAAAGAA	0.428000													7	41					0	0	1	0	0
RPS29	6235	broad.mit.edu	37	14	50052766	50052766	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50052766G>A	ENST00000396020.3	-	2	93	c.62_splice	c.e2-1	p.R22_splice	RPS29_ENST00000245458.6_Splice_Site_p.R22_splice|RPS29_ENST00000557111.1_5'UTR	NM_001030001.1	NP_001025172.1	P62273	RS29_HUMAN	ribosomal protein S29	22					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome|zinc ion binding			endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GAACAGACACGACTGTAAGAA	0.507000													5	74					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000406	73000406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:73000406C>T	ENST00000322038.5	+	2	3493	c.2909C>T	c.(2908-2910)tCg>tTg	p.S970L	TSHZ1_ENST00000580243.1_Missense_Mutation_p.S1015L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1015						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S970L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGAATGTTTCGAAAGTCCTC	0.502000													8	53					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37307487	37307487	+	Silent	SNP	G	G	A	rs140524228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37307487G>A	ENST00000373091.3	-	10	1396	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	GRIK3_ENST00000373093.4_Silent_p.D460D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	460					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTCGAACCGGTCATTCCCGT	0.577000													27	138					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228762942	228762942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228762942G>A	ENST00000373666.2	+	6	1121	c.485G>A	c.(484-486)tGg>tAg	p.W162*	DAW1_ENST00000309931.2_Nonsense_Mutation_p.W162*|DAW1_ENST00000545118.1_Nonsense_Mutation_p.W147*					dynein assembly factor with WDR repeat domains 1																		TGTAAACTCTGGAGTGTGGAA	0.274000													5	40					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150429861	150429861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150429861C>T	ENST00000401000.4	+	7	955	c.890C>T	c.(889-891)tCc>tTc	p.S297F	RPRD2_ENST00000369068.4_Missense_Mutation_p.S323F|RPRD2_ENST00000539519.1_Missense_Mutation_p.S297F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	323							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCAGTTCCTTCCCCAAGCATG	0.463000													8	113					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421019	11421019	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:11421019C>T	ENST00000381842.3	-	0	201				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.G55E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCTGGAGGAGG	0.597000													11	170					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802482	185802482	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185802482C>T	ENST00000302277.6	+	4	2953	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	787						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGTTTAAATCGACAGAATCA	0.368000													5	16					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63069894	63069894	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63069894C>T	ENST00000332793.6	+	7	1166	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	388						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGAGCTGTCGCTCTCATAG	0.433000													4	13					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52992013	52992013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:52992013C>T	ENST00000575882.1	+	6	865	c.512C>T	c.(511-513)tCa>tTa	p.S171L	TOM1L1_ENST00000348161.4_Missense_Mutation_p.S94L|TOM1L1_ENST00000445275.2_Missense_Mutation_p.S171L|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000570371.1_Missense_Mutation_p.S171L|TOM1L1_ENST00000575333.1_Missense_Mutation_p.S171L|TOM1L1_ENST00000572405.1_Missense_Mutation_p.S136L|TOM1L1_ENST00000572158.1_Missense_Mutation_p.S164L|TOM1L1_ENST00000536554.1_Missense_Mutation_p.S94L	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	171					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GCTCAAATCTCATCAAATCCT	0.403000													4	54					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962271	2962271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2962271C>T	ENST00000396946.4	-	17	2669	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	756					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTCTCACCTTCGTGGTTGACC	0.627000			Mis		DLBCL								12	48					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691067	44691067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44691067G>A	ENST00000290231.6	-	8	1776	c.1612C>T	c.(1612-1614)Cca>Tca	p.P538S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	538	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTACACTTGGATTGTCAAAG	0.572000													4	34					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016468	23016468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23016468C>T	ENST00000255008.3	+	1	412	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	116					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTTCGGCTCCGTGCTGTGCC	0.667000													13	74					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965823	127965823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127965823G>A	ENST00000254730.6	+	2	515	c.461G>A	c.(460-462)gGa>gAa	p.G154E	EEFSEC_ENST00000483457.1_Missense_Mutation_p.G154E	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	154						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TTACCTGAAGGAAAGAGACAG	0.478000													13	145					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156644904	156644904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156644904C>T	ENST00000422843.3	+	5	634	c.482C>T	c.(481-483)cCt>cTt	p.P161L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	161					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCTACTCCTGAAGACAAC	0.507000			T	SYK	peripheral T-cell lymphoma								29	173					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231742781	231742781	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231742781C>T	ENST00000326427.6	+	6	897	c.771C>T	c.(769-771)ttC>ttT	p.F257F	ITM2C_ENST00000335005.6_Silent_p.F210F|ITM2C_ENST00000326407.6_Silent_p.F220F|ITM2C_ENST00000409704.2_Silent_p.F195F	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	257					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGAACACCTTCGTGGTGGAGA	0.597000													10	35					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61929359	61929359	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61929359G>A	ENST00000422202.1	+	2	248	c.180G>A	c.(178-180)gtG>gtA	p.V60V	COL20A1_ENST00000358894.6_Silent_p.V60V|COL20A1_ENST00000435874.1_Silent_p.V60V|COL20A1_ENST00000326996.6_Silent_p.V60V			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	60	Fibronectin type-III 1.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGTGCAGGTGAAGCCCATGG	0.667000													13	34					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65207891	65207891	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65207891G>A	ENST00000247226.7	+	14	1796	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	PLEKHG3_ENST00000484731.2_Silent_p.L57L|PLEKHG3_ENST00000394691.1_Silent_p.L552L|PLEKHG3_ENST00000471182.2_Silent_p.L85L	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	552					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGGGCCTTCTGGGGATGGACC	0.582000													18	160					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257367	41257367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:41257367C>T	ENST00000307221.4	-	1	763	c.632G>A	c.(631-633)aGa>aAa	p.R211K	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	211					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTCAGCTTCTCTTTCTTGATC	0.348000													6	65					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70917972	70917972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70917972C>T	ENST00000264436.3	-	8	1239	c.795G>A	c.(793-795)atG>atA	p.M265I	ADD2_ENST00000407644.2_Missense_Mutation_p.M265I|ADD2_ENST00000355733.3_Missense_Mutation_p.M265I|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000430656.1_Missense_Mutation_p.M281I|ADD2_ENST00000413157.2_Missense_Mutation_p.M265I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	265					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTTCCTGCTCCATTTCCCCAT	0.537000													17	70					0	0	1	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522161	6522161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6522161G>A	ENST00000377782.3	-	9	912	c.845C>T	c.(844-846)aCc>aTc	p.T282I	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.T236I|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.T228I|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.T273I|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.T90I	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	273					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CAACTGGACGGTGCAGATCTT	0.637000													9	127					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219559031	219559031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219559031C>T	ENST00000295709.3	+	20	2660	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	STK36_ENST00000440309.1_Missense_Mutation_p.S794L|STK36_ENST00000392105.3_Missense_Mutation_p.S794L|STK36_ENST00000392106.2_Missense_Mutation_p.S794L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	794					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTTACCCATTCGCATGTCGTC	0.468000													18	115					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25335045	25335045	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25335045C>T	ENST00000302874.4	+	4	594	c.570C>T	c.(568-570)ctC>ctT	p.L190L	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	190							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TTTCTGCCCTCGGATTCAGAA	0.393000													8	55					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:212615400G>A	ENST00000342788.4	-	5	896	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_ENST00000402597.1_Missense_Mutation_p.R196C|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Missense_Mutation_p.R196C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	196	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453000										TSP Lung(8;0.080)			10	75					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649637	34649637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34649637G>A	ENST00000537011.1	+	8	3810	c.3428G>A	c.(3427-3429)aGg>aAg	p.R1143K	NUTM1_ENST00000438749.3_Missense_Mutation_p.R1133K|NUTM1_ENST00000333756.4_Missense_Mutation_p.R1115K					NUT midline carcinoma, family member 1																		CCTCGTAAAAGGCGGTGTGAC	0.577000													11	47					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95497136	95497136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:95497136G>A	ENST00000317968.4	+	5	797	c.661G>A	c.(661-663)Gca>Aca	p.A221T	PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A112T|PDLIM5_ENST00000542407.1_Missense_Mutation_p.A99T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A112T|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A112T|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A112T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A112T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	221					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCAGGAGCTAGCAGAGGGACA	0.507000													5	21					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116303	161116303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:161116303C>T	ENST00000523217.1	+	5	702	c.460C>T	c.(460-462)Cct>Tct	p.P154S	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.P164S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	164					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTAACTTTCCTATGGATGG	0.388000										TCGA Ovarian(5;0.080)			6	56					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107154	14107154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:14107154C>T	ENST00000235372.7	+	8	3720	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.S754F|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S754F|PRDM2_ENST00000311066.5_Missense_Mutation_p.S955F	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	955	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CAGACACCCTCCCTTTCATCC	0.607000													13	192					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2798227	2798227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2798227C>T	ENST00000155840.5	+	14	1805	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	KCNQ1_ENST00000335475.5_Missense_Mutation_p.S439F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	566			S -> F (in LQT1).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTGGACCAGTCCATTGGGAAG	0.597000													23	281					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4043411	4043411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4043411G>A	ENST00000294016.3	-	4	2523	c.1985C>T	c.(1984-1986)aCc>aTc	p.T662I	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	662					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTACCTTGGTGCTGTTTTT	0.532000													6	50					0	0	1	0	0
NANOS2	339345	broad.mit.edu	37	19	46417850	46417850	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46417850C>T	ENST00000341294.2	-	1	186	c.102G>A	c.(100-102)gaG>gaA	p.E34E		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	34					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GCTCCTCAATCTCTTGGGTCT	0.652000													9	79					0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113287661	113287661	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113287661G>A	ENST00000362072.3	-	4	800	c.456C>T	c.(454-456)gtC>gtT	p.V152V	DRD2_ENST00000355319.2_Silent_p.V152V|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000542968.1_Silent_p.V152V|DRD2_ENST00000346454.3_Silent_p.V152V|DRD2_ENST00000544518.1_Silent_p.V151V|DRD2_ENST00000538967.1_Silent_p.V152V	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	152					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCATGACGGTGACCCGGCGCT	0.582000													4	26					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519625	73519625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73519625G>A	ENST00000545030.1	-	2	804	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S	EGR4_ENST00000436467.2_Missense_Mutation_p.P141S	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	140						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTCCGGCGGACCCGGCAGC	0.682000													9	18					0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58487097	58487097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58487097C>T	ENST00000355076.6	+	2	1435	c.452C>T	c.(451-453)tCc>tTc	p.S151F	KCTD6_ENST00000490264.1_Missense_Mutation_p.S151F|KCTD6_ENST00000404589.3_Missense_Mutation_p.S151F	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		AAGGTCCATTCCTTACTAGAA	0.433000													9	38					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170345807	170345807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170345807G>A	ENST00000439128.2	-	29	3675	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	NEK1_ENST00000511633.1_Missense_Mutation_p.S996F|NEK1_ENST00000510533.1_Missense_Mutation_p.S968F|NEK1_ENST00000507142.1_Missense_Mutation_p.S1040F|NEK1_ENST00000512193.1_Missense_Mutation_p.S943F	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1012					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATGCAAAGGATTCTTCTGG	0.398000													4	12					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562585	140562585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140562585G>A	ENST00000361016.2	+	1	1606	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		151	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTAGGAACTGAGTTCCCTCT	0.403000													4	25					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266612	55266612	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55266612G>A	ENST00000371276.4	-	1	328	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TTC22_ENST00000371274.4_Silent_p.F75F	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	75							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGTAGAATGCGAAAGCGCCCA	0.711000													6	13					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174721469	174721469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:174721469C>T	ENST00000251507.4	+	18	2362	c.2188C>T	c.(2188-2190)Cat>Tat	p.H730Y	RABGAP1L_ENST00000347255.2_Missense_Mutation_p.H57Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.H37Y|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.H56Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	730					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CATAATCTTTCATGTAGCTTT	0.323000													7	50					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762528	53762528	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53762528G>A	ENST00000341702.3	+	1	984	c.900G>A	c.(898-900)agG>agA	p.R300R	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	300					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACATCTGTAGGAACAATCTCT	0.493000													20	131					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43442444	43442444	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:43442444T>C	ENST00000331018.7	-	9	1267	c.1027A>G	c.(1027-1029)Aag>Gag	p.K343E	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.K372E			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	372	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		AGGACTTCCTTAGGTGGCGAC	0.498000													5	152					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662485	113662485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113662485G>A	ENST00000297405.5	-	19	3342	c.3098C>T	c.(3097-3099)tCa>tTa	p.S1033L	CSMD3_ENST00000455883.2_Missense_Mutation_p.S929L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1033L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S993L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1033	Sushi 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						ACAACTAAATGAAACAGTAGA	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	69					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65006823	65006823	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:65006823G>A	ENST00000394156.3	-	9	1827	c.1374C>T	c.(1372-1374)gtC>gtT	p.V458V	CDH11_ENST00000268603.4_Silent_p.V458V|CDH11_ENST00000566827.1_Silent_p.V332V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	458	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTGCAAAGACAGTGATGT	0.378000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			4	32					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890130	105890130	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:105890130G>A	ENST00000393359.2	-	9	2109	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	TGFBRAP1_ENST00000258449.1_Silent_p.F561F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	561					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTCTCTTGGTGAAAACCTGAA	0.413000													4	47					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390628	48390628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48390628C>T	ENST00000224600.4	-	1	363	c.250G>A	c.(250-252)Gat>Aat	p.D84N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	84	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.D84N(2)		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)	AGGCGAGGATCGTTCAGGGAG	0.617000													7	98					0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													5	69					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028325	21028325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21028325C>T	ENST00000381545.3	+	9	1103	c.884C>T	c.(883-885)tCa>tTa	p.S295L	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S295L|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.S295L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S295L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	295					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTTCACTATCATTGCATGTG	0.313000													5	14					0	0	1	0	0
C6orf203	51250	broad.mit.edu	37	6	107361101	107361101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107361101C>T	ENST00000443043.1	+	3	827	c.152C>T	c.(151-153)tCt>tTt	p.S51F	C6orf203_ENST00000405204.2_Missense_Mutation_p.S46F|C6orf203_ENST00000311381.5_Missense_Mutation_p.S46F	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	46										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTGTATTTTTCTAGTACCAAG	0.388000													7	85					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160771642	160771642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160771642G>A	ENST00000368039.2	+	3	518	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	LY9_ENST00000368040.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000263285.5_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCCTGGAGGGCAGCGGCCT	0.592000													6	163					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881380	39881380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39881380C>T	ENST00000393939.2	-	10	1367	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	HAP1_ENST00000347901.4_Missense_Mutation_p.R478Q|HAP1_ENST00000310778.5_Missense_Mutation_p.R530Q|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.R461Q			P54257	HAP1_HUMAN	huntingtin-associated protein 1	477	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CACCTGCTCTCGATCCTCACT	0.607000													8	160					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787712	151787712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151787712G>A	ENST00000356728.6	-	4	579	c.425C>T	c.(424-426)tCg>tTg	p.S142L	RORC_ENST00000392697.3_Missense_Mutation_p.S217L|RORC_ENST00000318247.6_Missense_Mutation_p.S163L	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	163	Hinge (Potential).				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			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGTCAGGCGAGGAGCCCAG	0.637000													4	45					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108631794	108631794	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:108631794G>A	ENST00000218006.2	-	15	3171	c.2880C>T	c.(2878-2880)atC>atT	p.I960I		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	960	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGAGCTCAGGATATCTAAGG	0.498000													4	7					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183694754	183694754	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694754C>T	ENST00000511685.1	+	23	5145	c.5022C>T	c.(5020-5022)atC>atT	p.I1674I	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Silent_p.I1674I					teneurin transmembrane protein 3																		ATGTCAGCATCACTTCAAATC	0.453000													8	139					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322195	55322195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55322195C>T	ENST00000314644.2	+	1	413	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S138F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATTGTAGACTCCCTCTATGTG	0.488000										HNSCC(20;0.049)			14	64					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807476	1807476	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1807476G>A	ENST00000340107.4	+	13	1907		c.e13-1		FGFR3_ENST00000412135.2_Splice_Site|FGFR3_ENST00000440486.2_Splice_Site|FGFR3_ENST00000260795.2_Splice_Site|FGFR3_ENST00000352904.1_Splice_Site|FGFR3_ENST00000481110.2_Splice_Site	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3						bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGTGTCCCCAGGGCCCCTGTA	0.736000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				4	53					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030501	129030501	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:129030501G>A	ENST00000274487.4	+	19	3034	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	963	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACTTAACCAAGCCAGAGCCAC	0.398000													3	25					0	0	1	0	0
ZXDB	158586	broad.mit.edu	37	X	57619841	57619841	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:57619841T>A	ENST00000374888.1	+	1	1573	c.1360T>A	c.(1360-1362)Ttc>Atc	p.F454I		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	454	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGAGAGACCTTTCCTTTGTGA	0.493000													8	60					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076747	6076747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6076747C>T	ENST00000261405.5	-	47	8046	c.7792G>A	c.(7792-7794)Gat>Aat	p.D2598N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2598	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTGCACACATCGATCATCACA	0.622000													16	115					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590625	102590625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:102590625C>T	ENST00000330847.1	+	2	378	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	NR4A3_ENST00000338488.4_Missense_Mutation_p.H101Y|NR4A3_ENST00000395097.2_Missense_Mutation_p.H101Y			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	101					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				tcaccaccaccaccaccacca	0.612000			T	EWSR1	extraskeletal myxoid chondrosarcoma								10	17					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090780	91090780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:91090780C>T	ENST00000373094.1	+	1	1122	c.277C>T	c.(277-279)Cgt>Tgt	p.R93C	PCDH11X_ENST00000395337.2_Missense_Mutation_p.R93C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R93C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R93C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R93C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R93C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	93	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCGCATTGATCGTGAGAAATT	0.443000													6	45					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087097	92087097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92087097G>A	ENST00000298047.6	+	1	1836	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	FAT3_ENST00000409404.2_Missense_Mutation_p.E607K|FAT3_ENST00000541502.1_Missense_Mutation_p.E607K|FAT3_ENST00000525166.1_Missense_Mutation_p.E457K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	607	Cadherin 6.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGATATCGATGAACTTGAACT	0.388000										TCGA Ovarian(4;0.039)			5	69					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838372	155838372	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155838372G>A	ENST00000368324.4	+	2	904	c.651G>A	c.(649-651)aaG>aaA	p.K217K	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	217	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGCTGCGGAAGACCCTGGACC	0.557000													4	53					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22915766	22915766	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22915766G>A	ENST00000374644.4	+	5	1454	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K	EPHA8_ENST00000538803.1_Missense_Mutation_p.R461K|EPHA8_ENST00000166244.3_Intron	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACCCATCCAGGGATCAGAGC	0.647000													7	45					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150661	128150661	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:128150661C>T	ENST00000368250.1	-	4	930	c.432G>A	c.(430-432)ctG>ctA	p.L144L	THEMIS_ENST00000543064.1_Silent_p.L223L|THEMIS_ENST00000368248.2_Silent_p.L223L|THEMIS_ENST00000537166.1_Silent_p.L188L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	223	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTGAGAATCAGGGTACCAT	0.373000													5	48					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642028	94642028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:94642028C>T	ENST00000258526.4	+	14	2867	c.2618C>T	c.(2617-2619)tCc>tTc	p.S873F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	873					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCAACATTTCCAAAAAAGAC	0.338000													3	18					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167218000	167218000	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167218000A>T	ENST00000308378.3	-	14	2221	c.1916T>A	c.(1915-1917)tTt>tAt	p.F639Y	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.F464Y|WDR49_ENST00000453925.2_Missense_Mutation_p.F604Y	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	639										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCTTTCCTAAAGTATTTCTC	0.438000													13	69					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262626	144262626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:144262626G>A	ENST00000360537.2	-	5	3240	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S	PLAGL1_ENST00000437412.1_Missense_Mutation_p.P391S|PLAGL1_ENST00000429150.1_Missense_Mutation_p.P443S|PLAGL1_ENST00000416623.1_Missense_Mutation_p.P443S|PLAGL1_ENST00000392307.1_Missense_Mutation_p.P391S|PLAGL1_ENST00000367571.1_Missense_Mutation_p.P443S|PLAGL1_ENST00000444202.1_Missense_Mutation_p.P443S|PLAGL1_ENST00000392309.1_Missense_Mutation_p.P443S|PLAGL1_ENST00000367572.1_Missense_Mutation_p.P391S|PLAGL1_ENST00000354765.2_Missense_Mutation_p.P443S			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	443					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		AACACATGAGGGATGGGGGGC	0.527000													34	394					0	0	1	0	0
PRPS2	5634	broad.mit.edu	37	X	12838920	12838920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12838920C>T	ENST00000380668.5	+	6	990	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	PRPS2_ENST00000398491.2_Nonsense_Mutation_p.Q291*	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	288					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CACCAAGATTCAGGTACTGTC	0.448000													5	17					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853481	122853481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:122853481G>A	ENST00000264811.5	-	1	1131	c.713C>T	c.(712-714)gCc>gTc	p.A238V	TRPC3_ENST00000513531.1_Missense_Mutation_p.A238V|TRPC3_ENST00000379645.3_Missense_Mutation_p.A311V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	226					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGCTCTAGGGCCGTAAGCAC	0.597000													4	21					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7160716	7160716	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:7160716C>T	ENST00000320892.6	+	6	856	c.414C>T	c.(412-414)tgC>tgT	p.C138C	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	138						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GCAAAGCCTGCCGTATGGAAT	0.657000													5	114					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11188075	11188075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11188075G>A	ENST00000361445.4	-	43	6095	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*	MTOR_ENST00000376838.1_Nonsense_Mutation_p.Q212*	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2007					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ATGGCCTGCTGGACCAGGGTG	0.557000													47	111					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547857	35547857	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:35547857C>T	ENST00000455600.1	+	2	1908	c.1339C>T	c.(1339-1341)Cta>Tta	p.L447L		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	447						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGTATTACCTATTCCAGAA	0.582000													15	199					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183600872	183600872	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183600872G>A	ENST00000511685.1	+	8	1503	c.1380G>A	c.(1378-1380)cgG>cgA	p.R460R	TENM3_ENST00000406950.2_Silent_p.R460R					teneurin transmembrane protein 3																		GAGAGCAGCGGAGCCTGCTTG	0.572000													4	55					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658508	72658508	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72658508G>A	ENST00000425256.1	-	0	1403					NR_002164.1																						gattgcgatagaatatgccac	0.458000													5	40					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38954639	38954639	+	Missense_Mutation	SNP	C	C	T	rs78572335	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38954639C>T	ENST00000306658.7	-	3	603	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				AGCTCATTTTCATACCTTGGG	0.463000													9	90					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7584130G>A	ENST00000379802.3	+	24	6976	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_ENST00000418664.2_Missense_Mutation_p.G1613E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2212	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCTTCCAAGGAATCAGACAA	0.463000													10	66					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328235	48328235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48328235C>T	ENST00000319988.1	+	1	461	c.461C>T	c.(460-462)tCc>tTc	p.S154F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TTCCTGCATTCCATCCTGCAG	0.557000													8	53					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37949149	37949149	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37949149T>G	ENST00000346872.3	-	4	262	c.201A>C	c.(199-201)agA>agC	p.R67S	IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.R33S|IKZF3_ENST00000467757.1_Missense_Mutation_p.R67S|IKZF3_ENST00000439167.2_Missense_Mutation_p.R33S|IKZF3_ENST00000439016.2_Missense_Mutation_p.R67S|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.R67S|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000351680.3_Missense_Mutation_p.R67S|IKZF3_ENST00000350532.3_Missense_Mutation_p.R67S|IKZF3_ENST00000346243.3_Missense_Mutation_p.R67S	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	67					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CATTCTCATCTCTTTCACTGT	0.348000													3	27					0	0	1	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047129	46047129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46047129C>T	ENST00000397911.3	+	1	90	c.41C>T	c.(40-42)tCc>tTc	p.S14F	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	14						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGCGCTTACTCCGACTCCTGG	0.677000													4	71					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100379259	100379259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100379259C>T	ENST00000294724.4	+	30	4604	c.4126C>T	c.(4126-4128)Cag>Tag	p.Q1376*	AGL_ENST00000370165.3_Nonsense_Mutation_p.Q1376*|AGL_ENST00000370163.3_Nonsense_Mutation_p.Q1376*|AGL_ENST00000370161.2_Nonsense_Mutation_p.Q1360*|AGL_ENST00000361302.3_Nonsense_Mutation_p.Q1360*|AGL_ENST00000361522.4_Nonsense_Mutation_p.Q1359*|AGL_ENST00000361915.3_Nonsense_Mutation_p.Q1376*	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1376					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGTGACTATCAGCTCAGGCC	0.373000													4	39					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447897	19447897	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:19447897G>A	ENST00000375267.2	-	68	9930	c.9927C>T	c.(9925-9927)ttC>ttT	p.F3309F	UBR4_ENST00000375217.2_Silent_p.F3302F|UBR4_ENST00000375254.3_Silent_p.F3309F|UBR4_ENST00000375226.2_Silent_p.F3285F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3309					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATCCACAAGGAAACTGACTT	0.582000													6	44					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164064	150164064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150164064G>A	ENST00000307271.3	+	2	852	c.278G>A	c.(277-279)aGc>aAc	p.S93N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	93						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCTGCTCCCAGCCTCCATGCT	0.512000													8	74					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29004951	29004951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:29004951G>A	ENST00000524189.1	-	17	2020	c.1982C>T	c.(1981-1983)tCg>tTg	p.S661L	KIF13B_ENST00000521515.1_Missense_Mutation_p.S661L	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	661					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGCGCTGGGCGAGTGGAAAGA	0.557000													4	7					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777982	201777982	+	Missense_Mutation	SNP	C	C	T	rs142836716		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201777982C>T	ENST00000367296.4	+	20	4610	c.4190C>T	c.(4189-4191)cCc>cTc	p.P1397L	NAV1_ENST00000367300.3_Missense_Mutation_p.P1337L|NAV1_ENST00000295624.6_Missense_Mutation_p.P1394L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1389L|NAV1_ENST00000367302.1_Missense_Mutation_p.P1350L|NAV1_ENST00000367295.1_Missense_Mutation_p.P1003L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1397					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCCTTCGGCCCCAGTCTTGCA	0.547000													9	77					0	0	1	0	0
HSDL1	83693	broad.mit.edu	37	16	84163235	84163235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84163235G>A	ENST00000219439.4	-	5	988	c.812C>T	c.(811-813)tCg>tTg	p.S271L	HSDL1_ENST00000434463.3_Missense_Mutation_p.S216L	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	271						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GACTTTTGGCGAAGGCACCAA	0.468000													7	72					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202987674	202987674	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202987674C>T	ENST00000367242.3	+	6	854	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AATTCAACTTCAAGTTCAAAA	0.338000													7	67					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152230082	152230082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152230082C>T	ENST00000243347.3	+	5	718	c.643C>T	c.(643-645)Cca>Tca	p.P215S		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	215	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AGATGAGCTTCCAGATGACAT	0.338000													5	67					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29648366	29648366	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:29648366C>T	ENST00000318184.5	-	4	305	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	102	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCCCAGAAGTCACAGTTATAT	0.363000													9	38					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849871	73849871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73849871C>T	ENST00000523207.1	+	3	2869	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	761					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGAAGAAACCCCCTCCCAGGG	0.587000													8	88					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618814	20618814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20618814G>A	ENST00000504154.1	+	35	4381	c.4129G>A	c.(4129-4131)Gga>Aga	p.G1377R	SLIT2_ENST00000503837.1_Missense_Mutation_p.G1373R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1369R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1390R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1377					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCCTTGCCTTGGAAATAAGTA	0.567000													7	40					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15134028	15134028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:15134028C>T	ENST00000379554.3	+	1	59	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	5					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GAGACGGCCCCCTGGCAATGG	0.622000													5	44					0	0	1	0	0
SPAG11A	653423	broad.mit.edu	37	8	7717892	7717892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:7717892C>T	ENST00000434307.2	+	3	405	c.238C>T	c.(238-240)Cga>Tga	p.R80*	SPAG11A_ENST00000326625.5_Intron|SPAG11A_ENST00000454911.2_Nonsense_Mutation_p.R27*|SPAG11A_ENST00000326558.5_Intron|SPAG11A_ENST00000351436.4_Intron					sperm associated antigen 11A											central_nervous_system(1)|lung(2)	3				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CCAGGAGGCTCGAGGACCCTC	0.473000													7	49					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89293954	89293954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89293954C>T	ENST00000433976.2	+	6	1506	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.P350S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGGAATAAAACCCTATACATG	0.463000													4	52					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27296605	27296605	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27296605C>T	ENST00000397501.1	+	24	2509	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	PTK2B_ENST00000544172.1_Silent_p.D567D|PTK2B_ENST00000517339.1_Silent_p.D567D|PTK2B_ENST00000338238.4_Silent_p.D567D|PTK2B_ENST00000397497.4_Silent_p.D313D|PTK2B_ENST00000420218.2_Silent_p.D567D|PTK2B_ENST00000346049.5_Silent_p.D567D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	567	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCTGGGGGACTTTGGTCTTT	0.572000													9	73					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067856	190067856	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:190067856C>T	ENST00000367462.3	-	8	1824	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.K429K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		531						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGAGCATCCGCTTACGCCAGG	0.433000													9	89					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63112759	63112759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63112759G>A	ENST00000561311.1	+	53	7182	c.6952G>A	c.(6952-6954)Gaa>Aaa	p.E2318K	TLN2_ENST00000306829.6_Missense_Mutation_p.E2318K			Q9Y4G6	TLN2_HUMAN	talin 2	2318	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCATCCATCGAAGCTGCTGC	0.468000													4	49					0	0	1	0	0
ATP5O	539	broad.mit.edu	37	21	35284673	35284673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:35284673G>A	ENST00000290299.2	-	3	334	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	ATP5O_ENST00000496044.1_5'UTR	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GTGGCATAGCGACCTTCAATA	0.383000													4	58					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25826824	25826824	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25826824G>A	ENST00000244527.4	-	3	187	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SLC17A1_ENST00000427328.1_Silent_p.F24F|SLC17A1_ENST00000476801.1_Silent_p.F24F|SLC17A1_ENST00000468082.1_Silent_p.F24F	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	24					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTGCACAAGGAAAGACAATC	0.413000													6	19					0	0	1	0	0
AGO3	192669	broad.mit.edu	37	1	36411312	36411312	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36411312C>T	ENST00000373191.4	+	2	388	c.39C>T	c.(37-39)ccC>ccT	p.P13P	AGO3_ENST00000246314.6_5'UTR|AGO3_ENST00000324350.5_Silent_p.P13P|AGO3_ENST00000397828.2_Silent_p.P13P	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GGGCCCAGCCCCTACTCATGG	0.473000													23	132					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:51872921C>T	ENST00000371497.5	+	2	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S972L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S972L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	975					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)			TCCCGGGTATCGTCGGCTCAG	0.493000													5	42					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118477254	118477254	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118477254C>T	ENST00000349139.4	+	3	377	c.330C>T	c.(328-330)atC>atT	p.I110I	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	110						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGCAGCTATCACTACCTTGA	0.483000													5	67					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719261	52719261	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52719261C>T	ENST00000322088.6	+	8	985	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PPP2R1A_ENST00000462990.1_Silent_p.F130F|PPP2R1A_ENST00000444322.2_Silent_p.F254F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	309	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCACAGAGTTCTGTGAAAACC	0.542000			Mis		clear cell ovarian carcinoma								7	50					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917964	56917964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56917964G>A	ENST00000438926.2	+	14	1702	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	SLC12A3_ENST00000262502.5_Nonsense_Mutation_p.W557*|SLC12A3_ENST00000566786.1_Nonsense_Mutation_p.W557*|SLC12A3_ENST00000563236.1_Nonsense_Mutation_p.W558*	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	558					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCCCAGGGTGGAGACCTTCA	0.607000													7	46					0	0	1	0	0
RAB2A	5862	broad.mit.edu	37	8	61496785	61496785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61496785C>T	ENST00000262646.7	+	4	556	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	RAB2A_ENST00000531289.1_Missense_Mutation_p.R45C|RAB2A_ENST00000529579.1_Missense_Mutation_p.R69C|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	69					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGAATCCTTTCGTTCCATCAC	0.368000													4	81					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475575	32475575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:32475575C>T	ENST00000404025.2	-	5	1846	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R453Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.R453Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	453	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.R453Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTGAGTCTTCGTCCTGCTGT	0.448000													7	94					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72468481	72468481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:72468481C>T	ENST00000373208.1	+	4	817	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R273C	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	273	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTCGGTGGTTCGCTTCCATGG	0.617000													12	88					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21329051	21329051	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21329051C>T	ENST00000399167.2	+	8	906	c.666C>T	c.(664-666)atC>atT	p.I222I	AIFM3_ENST00000440238.2_Silent_p.I222I|AIFM3_ENST00000335375.5_Silent_p.I210I|AIFM3_ENST00000333607.6_Silent_p.I222I|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000399163.2_Silent_p.I222I|AIFM3_ENST00000405089.1_Silent_p.I228I	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGACCGGATCGTCCTGTGCA	0.652000													8	80					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117335656	117335656	+	Splice_Site	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:117335656A>T	ENST00000321322.6	-	17	3447		c.e17+1		DSCAML1_ENST00000527706.1_Splice_Site	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGGCCCTCACCATCCTCCA	0.632000													3	28					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066295	31066295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31066295C>T	ENST00000399914.1	-	2	727	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.R69Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R69Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R69Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.R69Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R69Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	69					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGGGTTCGGTTTCTGTT	0.398000													3	17					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46332353	46332353	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46332353G>A	ENST00000245934.7	-	14	2104	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	620					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGAGCCAGGCGAAGGCCAGGT	0.642000													15	75					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380328	147380328	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147380328C>T	ENST00000240986.4	+	2	299	c.246C>T	c.(244-246)atC>atT	p.I82I	GJA8_ENST00000369235.1_Silent_p.I82I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	82					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCTGCAGATCATCTTCGTCT	0.627000													6	55					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36459083	36459083	+	Missense_Mutation	SNP	C	C	T	rs138337760	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36459083C>T	ENST00000265748.2	+	10	2085	c.1864C>T	c.(1864-1866)Cca>Tca	p.P622S	ANLN_ENST00000396068.2_Missense_Mutation_p.P585S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	622	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGTGGTAAGTCCAGAGGTAAG	0.423000													5	8					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408781	105408781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105408781G>A	ENST00000333244.5	-	7	13126	c.13007C>T	c.(13006-13008)tCc>tTc	p.S4336F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4336						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)			CCCCTGCATGGAGGGGAGGCT	0.617000													40	202					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445119	150445119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150445119C>T	ENST00000401000.4	+	10	3682	c.3617C>T	c.(3616-3618)cCc>cTc	p.P1206L	RPRD2_ENST00000369068.4_Missense_Mutation_p.P1232L|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1232	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGAGATGCACCCACTCATCTA	0.577000													6	103					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885242	13885242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13885242C>T	ENST00000265104.4	-	19	2943	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	947	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCAGTTTCTTTCTTTTTC	0.428000									Kartagener syndrome				4	41					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349187	233349187	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233349187G>A	ENST00000304546.1	-	6	1389	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	ECEL1_ENST00000409941.1_Silent_p.P393P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	393					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATACCGGTGGGGTGTGGAGC	0.582000													9	141					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754526	140754526	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140754526C>T	ENST00000517434.1	+	1	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAATTTTCTGTTTGAATG	0.448000													7	35					0	0	1	0	0
AVPI1	60370	broad.mit.edu	37	10	99439560	99439560	+	Missense_Mutation	SNP	C	C	T	rs150249445		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99439560C>T	ENST00000370626.3	-	2	670	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	35					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		TGCAGCAGCTCGGCGTCCTGG	0.672000													3	11					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40710373	40710373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40710373C>T	ENST00000249760.2	+	12	1526	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	IVD_ENST00000479013.2_Nonsense_Mutation_p.R368*|IVD_ENST00000487418.2_Nonsense_Mutation_p.R398*	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	395					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CCGCTTTCTTCGAGATGCCAA	0.527000													6	71					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489190	42489190	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489190G>A	ENST00000545399.1	-	8	1065	c.912C>T	c.(910-912)ttC>ttT	p.F304F	ATP1A3_ENST00000302102.5_Silent_p.F291F|ATP1A3_ENST00000602133.1_Silent_p.F261F|ATP1A3_ENST00000543770.1_Silent_p.F302F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	291					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGACACCCAGGAAGACAGCCA	0.587000													3	16					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46748384	46748384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46748384C>T	ENST00000311907.5	+	9	1183	c.1127C>T	c.(1126-1128)cCt>cTt	p.P376L	F2_ENST00000530231.1_Missense_Mutation_p.P376L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	376	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GGCATGTCACCTTGGTGTGTC	0.612000													7	108					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800682	185800682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:185800682C>T	ENST00000302277.6	+	4	1153	c.559C>T	c.(559-561)Cca>Tca	p.P187S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	187						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCTGAAGATCCAGAAAGTGC	0.363000													6	10					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273630	10273630	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:10273630C>T	ENST00000304886.2	+	5	472	c.264C>T	c.(262-264)ttC>ttT	p.F88F	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	88	Cys-rich.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GTGGCCTTTTCATATGTCCTT	0.373000													6	31					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11738872	11738872	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11738872T>C	ENST00000381486.2	+	15	2519	c.2219T>C	c.(2218-2220)cTg>cCg	p.L740P	GREB1_ENST00000234142.5_Missense_Mutation_p.L740P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	740						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGTATGTTCTGAAGCTAGAC	0.458000													13	93					0	0	1	0	0
NHLH1	4807	broad.mit.edu	37	1	160340542	160340542	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160340542C>T	ENST00000302101.5	+	2	467	c.21C>T	c.(19-21)acC>acT	p.T7T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	7					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTCAGACACCATGGAGCTGG	0.667000													5	54					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237081	42237081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42237081C>T	ENST00000541110.1	-	5	816	c.248G>A	c.(247-249)gGa>gAa	p.G83E	TRERF1_ENST00000354325.2_Missense_Mutation_p.G83E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G83E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G83E|TRERF1_ENST00000372922.4_Missense_Mutation_p.G83E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	83					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCCACCCTCCCTGCCTCGA	0.597000													18	90					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201750306	201750306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201750306C>T	ENST00000367296.4	+	5	1952	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	NAV1_ENST00000367300.3_Missense_Mutation_p.S511L|NAV1_ENST00000295624.6_Missense_Mutation_p.S511L|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.S511L|NAV1_ENST00000367302.1_Missense_Mutation_p.S524L|NAV1_ENST00000367295.1_Missense_Mutation_p.S120L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	511					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTGATGATTCATCCAAGGGT	0.552000													5	91					0	0	1	0	0
PLA2G2A	5320	broad.mit.edu	37	1	20304874	20304874	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20304874G>A	ENST00000375111.3	-	4	455	c.185_splice	c.e4+1	p.R62_splice	PLA2G2A_ENST00000400520.3_Splice_Site_p.R62_splice|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	62					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding			central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCTCACCGATCCGTTGCA	0.607000													9	32					0	0	1	0	0
SRPX	8406	broad.mit.edu	37	X	38033466	38033466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:38033466G>A	ENST00000378533.3	-	3	402	c.296C>T	c.(295-297)tCc>tTc	p.S99F	SRPX_ENST00000432886.2_Missense_Mutation_p.S99F|SRPX_ENST00000538295.1_Missense_Mutation_p.S99F|SRPX_ENST00000343800.6_Missense_Mutation_p.S86F|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.S79F	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	99	Sushi 1.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GATCAGTAGGGAAGAGCCATG	0.552000													5	32					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169616	49169616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49169616G>A	ENST00000418109.1	-	5	556	c.392C>T	c.(391-393)cCt>cTt	p.P131L	LAMB2_ENST00000305544.4_Missense_Mutation_p.P131L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	131	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGACCGCAGGGATACCTGG	0.557000													4	34					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101572568	101572568	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:101572568T>C	ENST00000310954.6	-	13	2455	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	723					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CATTTCACCCTTCTTTTACTA	0.368000													3	5					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860213	30860213	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30860213C>T	ENST00000324771.8	+	10	1541	c.993C>T	c.(991-993)gcC>gcT	p.A331A	DDR1_ENST00000508312.1_Silent_p.A349A|DDR1_ENST00000452441.1_Silent_p.A331A|DDR1_ENST00000376569.3_Silent_p.A331A|DDR1_ENST00000376568.3_Silent_p.A331A|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_Silent_p.A331A|DDR1_ENST00000454612.2_Silent_p.A331A|DDR1_ENST00000376575.3_Silent_p.A331A|DDR1_ENST00000418800.2_Silent_p.A331A|DDR1_ENST00000361741.4_Silent_p.A62A|DDR1_ENST00000376570.4_Silent_p.A331A|DDR1_ENST00000513240.1_Silent_p.A331A			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	331					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCCCAGAGCCCGGGCTGTCT	0.672000													8	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634510	179634510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179634510C>T	ENST00000589042.1	-	37	9022	c.8798G>A	c.(8797-8799)gGa>gAa	p.G2933E	TTN_ENST00000591111.1_Missense_Mutation_p.G2933E|TTN_ENST00000359218.5_Missense_Mutation_p.G2887E|TTN_ENST00000360870.5_Missense_Mutation_p.G2933E|TTN_ENST00000342992.6_Missense_Mutation_p.G2933E|TTN_ENST00000460472.2_Missense_Mutation_p.G2887E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2887E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2671	Ig-like 16.						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)			ATGGAGTTTTCCCTGCACAAC	0.468000													14	58					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76867915	76867915	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76867915G>A	ENST00000409709.3	+	7	872	c.600G>A	c.(598-600)ggG>ggA	p.G200G	MYO7A_ENST00000458637.2_Silent_p.G200G|MYO7A_ENST00000409893.1_Silent_p.G200G|MYO7A_ENST00000409619.2_Silent_p.G189G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	200	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGCATTTGGGAATGCCAAGA	0.587000													6	50					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62550251	62550251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62550251G>A	ENST00000371158.2	+	33	4422	c.4308G>A	c.(4306-4308)atG>atA	p.M1436I	INADL_ENST00000545929.1_Missense_Mutation_p.M109I|INADL_ENST00000543708.1_Missense_Mutation_p.M220I|INADL_ENST00000316485.6_Missense_Mutation_p.M1436I	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1436					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAGGAAATGATTATAGAAA	0.468000													7	66					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374244	80374244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:80374244C>T	ENST00000265361.3	-	18	2783	c.2222G>A	c.(2221-2223)aGt>aAt	p.S741N	SEMA3C_ENST00000544525.1_Missense_Mutation_p.S759N|SEMA3C_ENST00000419255.2_Missense_Mutation_p.S741N	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	741	Arg/Lys-rich (basic).				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTGTTTCTACTTTTCCGACT	0.403000													3	20					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260362	44260362	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44260362G>A	ENST00000315087.7	-	7	1434	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ST8SIA5_ENST00000536490.1_Silent_p.S227S|ST8SIA5_ENST00000538168.1_Silent_p.S294S|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	258					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGACGCGGATGGACACGTCGG	0.607000													3	29					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48390375	48390375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48390375C>T	ENST00000380518.3	-	8	729	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E120K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	189					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGCCTTTTCATCAAATCCT	0.498000													16	281					0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822505	171822505	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171822505C>T	ENST00000234160.4	+	10	2039	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	GORASP2_ENST00000452526.2_Silent_p.S420S	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	408						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						ACGCTGCCTCCTCACTCACTG	0.632000													7	41					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088168	86088168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:86088168C>T	ENST00000330753.4	+	2	1077	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	FLRT2_ENST00000554746.1_Missense_Mutation_p.P104S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	104					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.P104S(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGACGAATTCCCCATGAACCT	0.463000													9	66					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196458978	196458978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196458978C>A	ENST00000367433.5	-	3	366	c.265G>T	c.(265-267)Gga>Tga	p.G89*	KCNT2_ENST00000451324.2_De_novo_Start_InFrame|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.G89*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.G89*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	89						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATTCATTTCCTTGTGAAGGG	0.308000													8	52					0.00307968	0.0031084	1	1	0
KRT35	3886	broad.mit.edu	37	17	39637053	39637053	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39637053C>T	ENST00000246639.2	-	1	339	c.207G>A	c.(205-207)gaG>gaA	p.E69E	KRT35_ENST00000393989.1_Silent_p.E99E			Q92764	KRT35_HUMAN	keratin 35	99	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ATTGCATGGTCTCCTTCTCAT	0.642000													8	53					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70679469	70679469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70679469G>A	ENST00000449580.1	+	37	5282	c.5231G>A	c.(5230-5232)aGt>aAt	p.S1744N	TAF1_ENST00000276072.3_Missense_Mutation_p.S1731N|TAF1_ENST00000373790.4_Missense_Mutation_p.S1710N|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Missense_Mutation_p.S1733N			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1710	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCTCAAGCCAGTGTCCTGTAT	0.468000													11	31					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138562	56138562	+	Missense_Mutation	SNP	C	C	T	rs140716525	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:56138562C>T	ENST00000373965.2	-	4	692	c.298G>A	c.(298-300)Gga>Aga	p.G100R	PCDH15_ENST00000395430.1_Missense_Mutation_p.G100R|PCDH15_ENST00000373955.1_Missense_Mutation_p.G100R|PCDH15_ENST00000361849.3_Missense_Mutation_p.G100R|PCDH15_ENST00000320301.6_Missense_Mutation_p.G100R|PCDH15_ENST00000395445.1_Missense_Mutation_p.G100R|PCDH15_ENST00000437009.1_Missense_Mutation_p.G100R|PCDH15_ENST00000395438.1_Missense_Mutation_p.G100R|PCDH15_ENST00000373957.3_Missense_Mutation_p.G78R|PCDH15_ENST00000395442.1_Missense_Mutation_p.G100R|PCDH15_ENST00000414778.1_Missense_Mutation_p.G105R|PCDH15_ENST00000395440.1_Missense_Mutation_p.G100R|PCDH15_ENST00000395433.1_Missense_Mutation_p.G78R|PCDH15_ENST00000395446.1_Missense_Mutation_p.G100R|PCDH15_ENST00000395432.2_Missense_Mutation_p.G100R|PCDH15_ENST00000409834.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	100	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAACTCTTCCGGTGCTGTTC	0.358000										HNSCC(58;0.16)			3	11					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123509211	123509211	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:123509211A>T	ENST00000223026.4	+	3	1522	c.884A>T	c.(883-885)gAt>gTt	p.D295V	HYAL4_ENST00000476325.1_Missense_Mutation_p.D295V	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	295					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATCTCATGATTATGCTCTG	0.438000													4	32					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190428764	190428764	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:190428764G>A	ENST00000261024.2	-	7	1374	c.948C>T	c.(946-948)ttC>ttT	p.F316F		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	316					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TCATATAAAGGAAAGCAAGAC	0.532000													4	25					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716968	105716968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105716968G>A	ENST00000463376.2	+	3	1733	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.V398I|BTBD6_ENST00000536364.1_Missense_Mutation_p.V473I|BTBD6_ENST00000392554.3_Missense_Mutation_p.V473I|BRF1_ENST00000327359.3_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	473						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CGGGACTGGGGTCCAGGGTGG	0.597000													11	57					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573729	38573729	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38573729C>T	ENST00000222345.6	+	3	2033	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	508					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGATTACTTCGTGGGCAAAG	0.622000													6	52					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272346	233272346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233272346G>A	ENST00000295453.3	+	4	395	c.343G>A	c.(343-345)Gcc>Acc	p.A115T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	115					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGGAGCCACAGCCACGGCCTA	0.577000													6	30					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222802528	222802528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222802528C>T	ENST00000344922.5	+	4	1991	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P656S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	656					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAAATCTTCCCTGGCAACA	0.463000													32	241					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082904	9082904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9082904C>T	ENST00000397910.4	-	1	9114	c.8911G>A	c.(8911-8913)Gca>Aca	p.A2971T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2972	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGCCCTGCCATAGAAGGG	0.502000													5	34					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79948455	79948455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79948455G>A	ENST00000373275.4	-	28	3463	c.3247C>T	c.(3247-3249)Cag>Tag	p.Q1083*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1083										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGTAACACTGGAAAGAACTA	0.403000													5	36					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223347	36223347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36223347C>T	ENST00000222270.7	+	28	5897	c.5897C>T	c.(5896-5898)tCt>tTt	p.S1966F	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.S1966F	NM_014727.1	NP_055542.1																					CCGGCCCCATCTCCACCACCC	0.657000													5	22					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036459	21036459	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:21036459C>T	ENST00000381545.3	+	13	1824	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	SLCO1B3_ENST00000261196.2_Silent_p.F535F|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.F535F|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F535F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	535					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GGAAATTTTTCATCTATGTTG	0.368000													4	28					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765450	113765450	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113765450G>A	ENST00000259211.6	+	4	717	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	102					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CCGAGCCTGTGAAGTCCTTTC	0.488000													7	89					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382491	56382491	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56382491G>A	ENST00000355701.3	-	30	6345	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F	BZRAP1_ENST00000268893.6_Silent_p.F1765F|BZRAP1_ENST00000343736.4_Silent_p.F1825F	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1825	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCCTCCAGGAAGTTGGATG	0.632000													4	54					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247977	5247977	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5247977G>A	ENST00000335295.3	-	2	320	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	49			L -> P (in Bab-Saadoum; slightly unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GGAGTGGACAGATCCCCAAAG	0.532000									Sickle Cell Trait				4	40					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38119797	38119797	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38119797C>T	ENST00000261439.4	+	17	3301	c.2946C>T	c.(2944-2946)ttC>ttT	p.F982F	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	982	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGCTGGGATTCGTAGCCAGAG	0.522000													10	68					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104738	74104738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:74104738G>A	ENST00000370336.4	+	1	268	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.R37Q	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	37						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GAGTTGAATCGAACAGGTCCT	0.657000													8	100					0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57246282	57246282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57246282C>T	ENST00000371141.4	+	7	1445	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	STX16_ENST00000361830.3_Missense_Mutation_p.R241C|STX16_ENST00000371132.4_Missense_Mutation_p.R220C|STX16_ENST00000358029.4_Missense_Mutation_p.R237C|STX16_ENST00000355957.5_Missense_Mutation_p.R224C|STX16_ENST00000496003.1_Intron|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R241C|STX16_ENST00000359617.4_Missense_Mutation_p.R188C|STX16_ENST00000361770.5_Missense_Mutation_p.R224C	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	241	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			ACGAGAGATTCGCCAGATTGT	0.483000													20	67					0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225510	51225510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51225510G>A	ENST00000602930.1	-	9	1973	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	AGAP8_ENST00000425119.2_Missense_Mutation_p.S491F	NM_001276343.1	NP_001263272.1	Q5SRD3	AGAP8_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 8	491	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						TCGCACACGGGAAAGGCGGGT	0.527000													12	146					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50951489	50951489	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50951489G>A	ENST00000357701.5	+	13	1365	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	438	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CAGAGAAACAGCTGGAGGTCC	0.557000													5	20					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2549161	2549161	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2549161C>T	ENST00000155840.5	+	2	498	c.390C>T	c.(388-390)ttC>ttT	p.F130F	KCNQ1_ENST00000335475.5_Silent_p.F3F	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	130					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CTTGCAGCTTCCTCATCGTCC	0.642000													31	371					0	0	1	0	0
NEURL1	9148	broad.mit.edu	37	10	105330665	105330665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105330665G>A	ENST00000369780.4	+	2	531	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	NEURL_ENST00000369777.2_Missense_Mutation_p.R24Q	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		41					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACTTCTCACCGATGCCACCAC	0.652000													42	196					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325408	43325408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43325408G>A	ENST00000361428.2	-	3	721	c.644C>T	c.(643-645)cCc>cTc	p.P215L	ZNF318_ENST00000318149.3_Missense_Mutation_p.P215L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	215					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCCCAAGAAGGGACTGAGAGG	0.493000													7	48					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155561736	155561736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155561736G>A	ENST00000461783.3	+	18	4514	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E1105K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1081K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1081K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E457K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E393K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E417K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1081K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E6K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1081					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGACCGCGGGAGAATCAGGA	0.557000													6	57					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207753667	207753667	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207753667C>T	ENST00000367049.4	+	30	5019	c.5019C>T	c.(5017-5019)ttC>ttT	p.F1673F	RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.F1223F|CR1_ENST00000367052.1_Silent_p.F1223F|CR1_ENST00000400960.2_Silent_p.F1223F|CR1_ENST00000367053.1_Silent_p.F1223F	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1223	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.F1228L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGAAGTGTTCTACAGCTGTG	0.582000													12	26					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75276562	75276562	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75276562G>A	ENST00000305249.4	-	5	1986	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S		NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	407					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGTGGCCTAGGAGAGCACAT	0.562000													5	67					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117552761	117552761	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117552761C>T	ENST00000256652.4	+	2	391	c.333C>T	c.(331-333)ctC>ctT	p.L111L	CD101_ENST00000369470.1_Silent_p.L111L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	111	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTCAAAACTCCAGATGAAGG	0.478000													8	27					0	0	1	0	0
RPP14	11102	broad.mit.edu	37	3	58296241	58296241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58296241C>T	ENST00000445193.2	+	3	496	c.85C>T	c.(85-87)Caa>Taa	p.Q29*	RPP14_ENST00000544156.1_5'UTR|RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Nonsense_Mutation_p.Q29*|RPP14_ENST00000295959.5_Nonsense_Mutation_p.Q29*	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit	29					tRNA processing	nucleus	identical protein binding|ribonuclease P activity|RNA binding			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		TAGAGAATTTCAAGATTGTGG	0.333000													6	80					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784098	151784098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151784098G>A	ENST00000255262.3	-	1	742	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	193					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GACCCATTGGGGAAGTAGTGG	0.582000													11	87					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79581018	79581018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79581018G>A	ENST00000372391.2	-	15	3229	c.3224C>T	c.(3223-3225)tCc>tTc	p.S1075F	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1075					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GTAGTAGCTGGAAGCAATGCG	0.652000													4	68					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152507129	152507129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152507129C>T	ENST00000397345.3	-	53	7388	c.7186G>A	c.(7186-7188)Gat>Aat	p.D2396N	NEB_ENST00000604864.1_Missense_Mutation_p.D2396N|NEB_ENST00000409198.1_Missense_Mutation_p.D2396N|NEB_ENST00000603639.1_Missense_Mutation_p.D2396N|NEB_ENST00000427231.2_Missense_Mutation_p.D2396N|NEB_ENST00000172853.10_Missense_Mutation_p.D2396N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2396					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCACAACATCGTTCTGATCA	0.388000													8	40					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:143956537G>A	ENST00000292427.4	-	8	1266	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R483C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGGGGTTGCGACCCAGAGAG	0.627000									Familial Hyperaldosteronism type I				7	86					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47609046	47609046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47609046G>A	ENST00000371891.3	+	5	647	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.G206S|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.G206S	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	206						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCCATCAGGGCAGCATCCA	0.577000													13	37					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532996	42532996	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:42532996C>T	ENST00000282030.5	+	4	3987	c.3691C>T	c.(3691-3693)Ctg>Ttg	p.L1231L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1231						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGTGGACACCCTGTCTACACT	0.517000									Schinzel-Giedion syndrome				3	14					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721163	7721163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7721163G>A	ENST00000572933.1	+	67	11685	c.10225G>A	c.(10225-10227)Gaa>Aaa	p.E3409K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3409K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3409	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAACATGGAAGGAGGCCA	0.612000													8	44					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068962	157068962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157068962C>T	ENST00000454449.2	-	2	551	c.267G>A	c.(265-267)atG>atA	p.M89I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	89						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGTCATAATTCATCTGTGGTT	0.577000													4	39					0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51858160	51858160	+	Missense_Mutation	SNP	C	C	T	rs145044397	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:51858160C>T	ENST00000581310.1	-	7	710	c.337G>A	c.(337-339)Gac>Aac	p.D113N	STARD6_ENST00000307844.3_Missense_Mutation_p.D113N|STARD6_ENST00000580990.2_Missense_Mutation_p.R20Q			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	113	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TACACTAAGTCGATAAAGTCT	0.378000													4	30					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4834516	4834516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:4834516C>T	ENST00000378191.4	+	5	1574	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	AJAP1_ENST00000378190.3_Missense_Mutation_p.P398L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	398	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATCTTATTCCTGTGGCCTTC	0.532000													13	99					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087593	47087593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:47087593G>A	ENST00000374312.1	+	3	1229	c.810G>A	c.(808-810)atG>atA	p.M270I	NPY4R_ENST00000395716.1_Missense_Mutation_p.M270I	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TGGTGGTGATGGTGGTGGCCT	0.602000													5	96					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987925	50987925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50987925G>A	ENST00000395676.2	+	1	1464	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	444										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTGGCCCACGAGGCTGTGGC	0.672000													19	101					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160913865	160913865	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160913865G>A	ENST00000335388.5	-	0	455					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCAGAGGCACGAACACAGTCC	0.507000													4	28					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493061	128493061	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128493061T>C	ENST00000325888.8	+	37	6445	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.F2029L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2062					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGTGGCAGAGTTCATCGTGGA	0.637000													3	63					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164719	139164719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139164719C>T	ENST00000395297.1	-	13	2169	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	667										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)			GAGAGTTCCTCCTGCTCTTCT	0.517000										HNSCC(54;0.14)			5	60					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341719	115341719	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115341719A>C	ENST00000351270.3	+	9	1019	c.923A>C	c.(922-924)gAg>gCg	p.E308A	HABP2_ENST00000542051.1_Missense_Mutation_p.E282A|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	308					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GAGATAGCAGAGAGGAAGATC	0.557000													5	92					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333650	70333650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70333650C>T	ENST00000373644.4	+	2	1764	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	519					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCATTAGCCCCTGAGAGAGG	0.483000													4	38					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015479	93015479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:93015479C>T	ENST00000333334.2	+	1	596	c.101C>T	c.(100-102)aCt>aTt	p.T34I	C15orf32_ENST00000556865.1_Missense_Mutation_p.T34I	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	34										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			AACACCAAGACTTCCCCAAGA	0.537000													6	87					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40852546	40852546	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40852546A>G	ENST00000254691.5	+	3	1311	c.1112A>G	c.(1111-1113)cAa>cGa	p.Q371R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	371					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						CGAGACATACAAACCATTAAT	0.463000													5	39					0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123310	151123310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:151123310C>T	ENST00000370328.3	-	9	1437	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	462					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCACAATCGGGGACCATG	0.567000													9	18					0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599490	22599490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22599490G>A	ENST00000403807.3	+	2	318	c.179G>A	c.(178-180)aGg>aAg	p.R60K	VPREB1_ENST00000302273.2_Missense_Mutation_p.R59K			P12018	VPREB_HUMAN	pre-B lymphocyte 1	60	Framework-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TACCAGCAGAGGCCGGGCCAC	0.602000													25	88					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719964	140719964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140719964G>A	ENST00000394576.2	+	1	1426	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGACGGCCCATGACCC	0.542000													7	66					0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	419071	419071	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:419071G>C	ENST00000199706.8	-	3	473	c.438C>G	c.(436-438)ctC>ctG	p.L146L	MRPL28_ENST00000389675.2_Silent_p.L146L|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	146					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CGCTTGCCTTGAGGATGTAAA	0.587000													6	28					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32233122	32233122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32233122C>T	ENST00000400246.1	+	26	2477	c.2335C>T	c.(2335-2337)Cca>Tca	p.P779S	DEPDC5_ENST00000400248.1_Missense_Mutation_p.P770S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P770S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P779S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P701S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P779S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P770S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P701S			O75140	DEPD5_HUMAN	DEP domain containing 5	770					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGATCTCCTTCCAGAAGCAGA	0.532000													5	48					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227750	75227750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75227750G>A	ENST00000342232.4	-	2	525	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	162					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGAGGCCAGCGAGGTACGCAG	0.731000													5	31					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940017	64940017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64940017G>A	ENST00000377185.2	+	5	539	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	153	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCACCAGAGGGATAAGCTTTG	0.592000													6	79					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25313574	25313574	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:25313574C>T	ENST00000524413.1	+	3	1769	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	THNSL1_ENST00000376356.4_Silent_p.G474G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	474					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TAAACTGGGGCCGACTACTTC	0.383000													10	49					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102644754	102644754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102644754G>A	ENST00000332549.3	+	9	1326	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.G366E	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	366					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GTTTTGGGGGGAATATGGATG	0.512000													28	61					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657186	143657186	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143657186G>A	ENST00000392899.1	+	1	160	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCGTGCTGGGGAACTGTCTCA	0.522000													28	96					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152464812	152464812	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152464812G>A	ENST00000367255.5	-	138	25666	c.25065C>T	c.(25063-25065)atC>atT	p.I8355I	SYNE1_ENST00000341594.5_Silent_p.I7967I|SYNE1_ENST00000423061.1_Silent_p.I8307I|SYNE1_ENST00000265368.4_Silent_p.I8355I|SYNE1_ENST00000354674.4_Silent_p.I533I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Silent_p.I2879I|SYNE1_ENST00000539504.1_Silent_p.I510I|SYNE1_ENST00000448038.1_Silent_p.I8307I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8355					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)		TGCTGCGAATGATATTTTCGG	0.537000										HNSCC(10;0.0054)			11	88					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109684049	109684049	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109684049C>T	ENST00000338432.7	+	39	5486	c.5367C>T	c.(5365-5367)atC>atT	p.I1789I	ACACB_ENST00000377854.5_Silent_p.I1719I|ACACB_ENST00000377848.3_Silent_p.I1789I|ACACB_ENST00000543201.1_Silent_p.I455I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1789					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGATGTGATCGTCATCGGCA	0.552000													9	92					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72958339	72958339	+	Missense_Mutation	SNP	C	C	T	rs141799560	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72958339C>T	ENST00000425042.2	-	5	678	c.601G>A	c.(601-603)Gat>Aat	p.D201N		NM_030630.2	NP_085133.1			HID1 domain containing																		CGGTTCATATCGTGGATGTAG	0.647000													14	62					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119810202	119810202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:119810202G>A	ENST00000307142.4	+	1	207	c.11G>A	c.(10-12)gGg>gAg	p.G4E	SYNPO2_ENST00000448416.2_Missense_Mutation_p.G4E|SYNPO2_ENST00000429713.2_Missense_Mutation_p.G4E|SYNPO2_ENST00000434046.2_Missense_Mutation_p.G4E	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	4						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATGGGCACAGGGGATTTTATC	0.547000													6	71					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89760502	89760502	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89760502C>T	ENST00000268125.5	-	5	634	c.195G>A	c.(193-195)gaG>gaA	p.E65E		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	65					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TCTCCTGCAGCTCTCGCACTG	0.637000													9	83					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7887787	7887787	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:7887787T>G	ENST00000377532.3	+	17	3022	c.2798T>G	c.(2797-2799)tTg>tGg	p.L933W	PER3_ENST00000361923.2_Missense_Mutation_p.L925W			P56645	PER3_HUMAN	period circadian clock 3	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCACCCTTGCAGTTAAAC	0.517000													17	58					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73181206	73181206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:73181206G>A	ENST00000541685.1	-	6	541	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	DPF3_ENST00000546183.1_Missense_Mutation_p.R187C|DPF3_ENST00000556509.1_Missense_Mutation_p.R177C|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	177			R -> H (in dbSNP:rs17855717).		chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCAGAGCCGCGAGCCTGGGGA	0.597000													5	57					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55139785	55139785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:55139785G>A	ENST00000414150.2	+	10	2175	c.1897G>A	c.(1897-1899)Ggc>Agc	p.G633S	MROH7_ENST00000545244.1_Missense_Mutation_p.G201S|MROH7_ENST00000454855.2_Missense_Mutation_p.G151S|MROH7_ENST00000421030.2_Missense_Mutation_p.G633S|MROH7_ENST00000395690.2_Missense_Mutation_p.G633S|MROH7_ENST00000339553.5_Missense_Mutation_p.G633S|MROH7_ENST00000409996.1_Missense_Mutation_p.G201S					maestro heat-like repeat family member 7																		GGCTCTGGACGGCATCATCAT	0.527000													12	136					0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36776458	36776458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36776458G>A	ENST00000361475.2	-	5	759	c.586C>T	c.(586-588)Ctt>Ttt	p.L196F	TGM2_ENST00000536724.1_Missense_Mutation_p.L136F|TGM2_ENST00000536701.1_Missense_Mutation_p.L115F	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	196					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACATCTAGAAGGATCAGGCAG	0.587000													4	83					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81969923	81969923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81969923G>A	ENST00000359376.3	+	27	3206	c.2992G>A	c.(2992-2994)Gac>Aac	p.D998N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	998	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCAAACTACGACCCCTTCCG	0.557000													6	53					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049698	42049698	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049698C>T	ENST00000372584.1	-	3	1785	c.771G>A	c.(769-771)gaG>gaA	p.E257E	HIVEP3_ENST00000372583.1_Silent_p.E257E|HIVEP3_ENST00000429157.2_Silent_p.E257E|HIVEP3_ENST00000247584.5_Silent_p.E257E	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	257	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTGGGTACATCTCGCCACCCA	0.562000													6	79					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661378	36661378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:36661378C>T	ENST00000319136.4	+	7	811	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	APOL1_ENST00000426053.1_Nonsense_Mutation_p.Q148*|APOL1_ENST00000422706.1_Nonsense_Mutation_p.Q166*|APOL1_ENST00000397279.4_Nonsense_Mutation_p.Q166*|APOL1_ENST00000397278.3_Nonsense_Mutation_p.Q166*|APOL1_ENST00000347595.7_Nonsense_Mutation_p.Q45*|APOL1_ENST00000440669.2_3'UTR	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	166					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGATGGGGTTCAGAAGGTCCA	0.532000													8	109					0	0	1	0	0
SRY	6736	broad.mit.edu	37	Y	2655388	2655388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:2655388C>T	ENST00000383070.1	-	1	352	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	SRY_ENST00000525526.2_Missense_Mutation_p.R86Q|SRY_ENST00000534739.2_Missense_Mutation_p.R86Q	NM_003140.2	NP_003131.1	Q05066	SRY_HUMAN	sex determining region Y	86	Sufficient for interaction with KPNB1.				cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation	cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|prostate(1)	2						CTCTGAGTTTCGCATTCTGGG	0.502000									Swyer syndrome				5	9					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142574216	142574216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142574216G>A	ENST00000359396.3	-	6	952	c.707C>T	c.(706-708)cCc>cTc	p.P236L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	236					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGTGATTGGGCACGAGGTC	0.572000													12	45					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799810	39799810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39799810C>T	ENST00000564288.1	+	37	8327	c.7550C>T	c.(7549-7551)tCt>tTt	p.S2517F	MACF1_ENST00000289893.4_Missense_Mutation_p.S957F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2554F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S2522F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2522					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)			ATGAGACTTTCTGTTGATAAT	0.398000													5	104					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39223219	39223219	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39223219G>A	ENST00000331366.5	-	6	465	c.369C>T	c.(367-369)atC>atT	p.I123I	CPNE8_ENST00000360449.3_Silent_p.I111I	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	123								p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GTGAACCAACGATCTCTCCCA	0.328000													7	67					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35837316	35837316	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35837316C>A	ENST00000373825.2	-	11	1639	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	SRPK1_ENST00000423325.2_Nonsense_Mutation_p.E436*|SRPK1_ENST00000373822.1_Nonsense_Mutation_p.E345*			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	452	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGGGTATCTCTGCCCGAATG	0.468000													12	90					0.000978159	0.00098854	1	1	0
LRP5	4041	broad.mit.edu	37	11	68192669	68192669	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68192669C>G	ENST00000294304.7	+	15	3442	c.3336C>G	c.(3334-3336)atC>atG	p.I1112M		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1112	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGCCTCATCCGCCCTGTGG	0.642000													3	40					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7404345	7404345	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7404345C>T	ENST00000322644.6	+	12	2367	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	656					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCCACATCTCCTACCTAGAGA	0.537000													6	60					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427765	47427765	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:47427765G>A	ENST00000295454.3	+	9	1447	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	GABRB1_ENST00000538619.1_Silent_p.T315T	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	385					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGTGCTCACGAGCGTGAGCG	0.622000													5	56					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634991	172634991	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172634991G>A	ENST00000367721.2	+	4	865	c.681G>A	c.(679-681)ggG>ggA	p.G227G	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	227					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						TGATGGAGGGGAAGATGATGA	0.512000													4	50					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136146	233136146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233136146C>T	ENST00000258229.8	-	30	5467	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E397K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1745						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGAGCAGCTCTTCCTTGTTG	0.602000													15	79					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183600	1183600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1183600G>A	ENST00000333813.3	+	1	644	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	102					response to biotic stimulus	integral to membrane		p.R102T(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGCCCCCAGAGATTACCTC	0.627000													8	69					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159161564	159161564	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:159161564C>T	ENST00000296529.6	+	10	1316	c.796C>T	c.(796-798)Cta>Tta	p.L266L	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	266						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TGAAGCAGTCCTACCAGGTAA	0.378000													4	18					0	0	1	0	0
SURF2	6835	broad.mit.edu	37	9	136227982	136227982	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136227982C>A	ENST00000371964.4	+	6	779	c.738C>A	c.(736-738)ccC>ccA	p.P246P		NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN	surfeit 2	246							protein binding	p.P246P(1)		breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		ACCGCAAACCCAAGAGCTTCA	0.458000													5	153					1	1	1	1	0
IL36G	56300	broad.mit.edu	37	2	113742473	113742473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113742473C>T	ENST00000259205.4	+	5	426	c.357C>T	c.(355-357)ttC>ttT	p.F119F	IL36G_ENST00000376489.2_Silent_p.F84F	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	119					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCTTCCTTTTCTACCGTGCCA	0.517000													10	48					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28420502	28420502	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28420502T>A	ENST00000337532.5	-	7	710	c.434A>T	c.(433-435)aAt>aTt	p.N145I	MPP7_ENST00000445954.2_Missense_Mutation_p.N20I|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375732.1_Missense_Mutation_p.N145I|MPP7_ENST00000540098.1_Missense_Mutation_p.N145I|MPP7_ENST00000375719.3_Missense_Mutation_p.N145I	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	145	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGGTTCTCTATTTTTGACCAG	0.403000													6	30					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36057669	36057669	+	Silent	SNP	C	C	A	rs149080200		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36057669C>A	ENST00000315571.5	+	2	84	c.63C>A	c.(61-63)ccC>ccA	p.P21P	LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	21						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				AGCTGCTCCCCGGGAACAACT	0.592000													13	48					0.000151284	0.000153215	1	1	0
LCT	3938	broad.mit.edu	37	2	136566156	136566156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136566156C>T	ENST00000264162.2	-	8	3771	c.3761G>A	c.(3760-3762)cGa>cAa	p.R1254Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1254	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAGCAGCCTTCGCGTCCCCCA	0.567000													12	64					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750002	30750002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30750002C>T	ENST00000262518.4	+	34	9026	c.8641C>T	c.(8641-8643)Ccc>Tcc	p.P2881S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P2819S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2723S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2881	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGATGAGGCACCCTCATCCAC	0.582000													5	21					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218669221	218669221	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218669221G>A	ENST00000171887.4	-	33	5621	c.5169C>T	c.(5167-5169)ttC>ttT	p.F1723F	TNS1_ENST00000430930.1_Silent_p.F1702F|TNS1_ENST00000419504.1_Silent_p.F1709F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1723						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCTTGGAGACGAAGTTGACGA	0.637000													6	107					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693441	42693441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:42693441G>A	ENST00000372999.1	+	7	972	c.778G>A	c.(778-780)Gca>Aca	p.A260T	TOX2_ENST00000435864.2_Missense_Mutation_p.A180T|TOX2_ENST00000423191.1_Missense_Mutation_p.A260T|TOX2_ENST00000358131.5_Intron|TOX2_ENST00000341197.3_Missense_Mutation_p.A302T	NM_032883.2	NP_116272.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACAGAAGCAGCAAAGAAGGA	0.567000													5	83					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183871708	183871708	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183871708C>T	ENST00000304685.3	+	13	1890	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	RGL1_ENST00000536277.1_Silent_p.L440L|RGL1_ENST00000539189.1_Silent_p.L413L|RGL1_ENST00000360851.3_Silent_p.L442L|RGL1_ENST00000367531.1_Silent_p.L477L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	442	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TTAGGGTGGACTGATAAACTT	0.353000													8	19					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114483010	114483010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:114483010C>T	ENST00000513154.1	-	3	670	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000282369.3_Missense_Mutation_p.R127Q|TRIM36_ENST00000515104.1_5'UTR			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	127						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTGATTCCTCGTTCTCCAAG	0.463000													12	78					0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19977361	19977361	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:19977361C>T	ENST00000255006.6	+	11	2535	c.2386C>T	c.(2386-2388)Ctg>Ttg	p.L796L	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Silent_p.L314L	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	747	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGCACTTTCTCTGATAAAGAA	0.522000													5	29					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3669122	3669122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3669122C>T	ENST00000294600.2	+	1	161	c.77C>T	c.(76-78)tCa>tTa	p.S26L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	26										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGCCTGTCCTCATTCAGGTCC	0.572000													7	84					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24188792	24188792	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24188792G>A	ENST00000265769.4	+	12	1343	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Silent_p.G178G|ADAM28_ENST00000397649.3_Silent_p.G158G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.G411G|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	411	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAATTTGTGGGAACCAGTTGG	0.408000													3	14					0	0	1	0	0
SDE2	163859	broad.mit.edu	37	1	226175879	226175879	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226175879G>A	ENST00000272091.7	-	6	870	c.852C>T	c.(850-852)atC>atT	p.I284I	SDE2_ENST00000366817.1_Silent_p.I189I	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		CAGTCACCGGGATCTGCAGTT	0.498000													8	119					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603750	95603750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95603750G>A	ENST00000343958.4	-	2	1533	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FGD6_ENST00000549499.1_Missense_Mutation_p.S437L|FGD6_ENST00000546711.1_Missense_Mutation_p.S437L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	437					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CACAGCAAGCGACATACTAGA	0.393000													9	51					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138926	42138926	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42138926C>A	ENST00000382448.4	+	23	2542	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.L614M|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.L614M|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.L845M	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		614					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CCTGTGCCTGCTGGATGTTGG	0.597000													15	107					3.27435e-08	3.32699e-08	1	1	0
FOXM1	2305	broad.mit.edu	37	12	2983392	2983392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2983392G>A	ENST00000342628.2	-	2	366	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	FOXM1_ENST00000359843.3_Missense_Mutation_p.H85Y|FOXM1_ENST00000361953.3_Missense_Mutation_p.H85Y	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	85					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATGATGCTGTGAATATTAGCA	0.512000													7	88					0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65208639	65208639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65208639C>T	ENST00000247226.7	+	14	2544	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P307S|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.P802S|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P335S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	802					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGACCCACCTCCCATCTCAGA	0.622000													17	87					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754262	32754262	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32754262G>A	ENST00000249007.4	+	1	409	c.204G>A	c.(202-204)caG>caA	p.Q68Q	RFPL3_ENST00000382088.3_Silent_p.Q39Q|RFPL3_ENST00000397468.1_Silent_p.Q39Q	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	68							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATTCGCTGCAGAAGGAGCCCC	0.537000													16	55					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161135152	161135152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161135152C>T	ENST00000368002.3	+	14	1990	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F	USP21_ENST00000368001.1_Missense_Mutation_p.S524F|USP21_ENST00000289865.8_Missense_Mutation_p.S538F|USP21_ENST00000487163.1_3'UTR	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	538					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTAGTGTCTCCCCTGTCAGT	0.532000													6	43					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217842	45217842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45217842G>A	ENST00000279027.4	-	7	991	c.973C>T	c.(973-975)Cga>Tga	p.R325*	SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.R275*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.R278*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.R275*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.R278*|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.R278*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.R278*|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	325						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ATTACAGCTCGAGCCCTATCT	0.483000													6	106					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22178048	22178048	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22178048G>A	ENST00000374695.3	-	55	7228	c.7149C>T	c.(7147-7149)gtC>gtT	p.V2383V	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2383	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTGGTGCCGGACAGGGAGGC	0.662000													16	85					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49702259	49702259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49702259C>T	ENST00000296452.4	+	10	11882	c.11768C>T	c.(11767-11769)tCc>tTc	p.S3923F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3923					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAAAAATTTTCCTCATTCTGG	0.552000													7	88					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490424	30490424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30490424G>A	ENST00000356798.6	+	5	520	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	ITGAL_ENST00000454514.2_Missense_Mutation_p.G114R|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	114					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGTGACCCTGGGCTGTCTCG	0.517000													4	60					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978900	58978900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58978900C>T	ENST00000361050.3	-	1	1524	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	480						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAAGAGGCCCCCAAAAAGCAG	0.493000													9	83					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470193	92470193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92470193G>A	ENST00000267622.4	-	11	4500	c.4127C>T	c.(4126-4128)tCg>tTg	p.S1376L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1376					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GGCAGCAATCGAATCAGACAA	0.378000			T	PDGFRB	AML								6	50					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35207320	35207320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:35207320C>T	ENST00000156471.5	-	16	1628	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	468						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTTAAAGTTCCTTAGCAGGTA	0.353000													4	31					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55984888	55984888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55984888C>T	ENST00000263923.4	-	3	536	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	81	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAGAGGCCATCGCTGCACTCA	0.498000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			5	34					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319706	3319706	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3319706C>T	ENST00000336727.3	+	2	2713	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	RGS12_ENST00000344733.5_Silent_p.S603S|RGS12_ENST00000382788.3_Silent_p.S603S|RGS12_ENST00000543385.1_Silent_p.S603S	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	603						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGAGTGGTCCAGGAAGGCCT	0.577000													8	149					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086318	55086318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55086318G>A	ENST00000251377.3	+	5	606	c.473G>A	c.(472-474)gGa>gAa	p.G158E	LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.G158E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G158E|LILRA2_ENST00000391737.1_Missense_Mutation_p.G146E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGTAAGGAAGGAGAAGATGAA	0.602000													7	105					0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305240	121305240	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121305240C>T	ENST00000334384.3	+	4	751	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	247						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTCTTCTTTCCACTGTCTGT	0.468000													5	53					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28872388	28872388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:28872388C>T	ENST00000375664.3	+	4	809	c.200C>T	c.(199-201)tCa>tTa	p.S67L	WAC_ENST00000354911.4_Missense_Mutation_p.S112L|WAC_ENST00000347934.4_Missense_Mutation_p.S112L|WAC_ENST00000428935.1_Missense_Mutation_p.S67L|WAC_ENST00000375646.1_Missense_Mutation_p.S67L			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	112					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGTTCAAATTCACATTCTTCT	0.318000													10	62					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	203977874	203977874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203977874C>T	ENST00000449802.1	+	16	2585	c.2252C>T	c.(2251-2253)tCc>tTc	p.S751F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	751							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCATCAGCCTCCTGGGGAGGA	0.478000													32	542					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497791	52497791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52497791G>A	ENST00000602063.1	-	6	887	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ZNF615_ENST00000391795.3_Missense_Mutation_p.P185S|ZNF615_ENST00000594083.1_Missense_Mutation_p.P191S|ZNF615_ENST00000598071.1_Missense_Mutation_p.P191S|ZNF615_ENST00000376716.5_Missense_Mutation_p.P180S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAATTGCAGGAAACTTCATT	0.378000													5	53					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763707	102763707	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763707C>T	ENST00000370220.1	+	2	3915	c.852C>T	c.(850-852)tcC>tcT	p.S284S	LZTS2_ENST00000370223.3_Silent_p.S284S			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	284	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.S284S(1)|p.S147S(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCACAGGCTCCCTAGGGGGCC	0.711000													5	78					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413817	26413817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26413817C>T	ENST00000289361.6	+	10	1807	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L	BTN3A1_ENST00000414912.2_Missense_Mutation_p.S428L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	480	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGGATGGATCGCATATTCAT	0.483000													8	80					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949581	49949581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49949581G>A	ENST00000257981.6	+	12	2575	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	772					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCCCCACGTCGAACAGCACCC	0.692000													5	36					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921659	213921659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:213921659C>T	ENST00000457361.1	-	4	472	c.304G>A	c.(304-306)Gag>Aag	p.E102K	IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Missense_Mutation_p.E102K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E102K|IKZF2_ENST00000421754.2_Missense_Mutation_p.E102K|IKZF2_ENST00000413091.3_Missense_Mutation_p.E102K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E108K|IKZF2_ENST00000374319.4_Missense_Mutation_p.E102K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ATTCCTCCCTCGCCTTGAAGC	0.512000													4	4					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802694	137802694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137802694C>T	ENST00000239938.4	+	2	828	c.556C>T	c.(556-558)Cag>Tag	p.Q186*		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	186					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTCCGCCTCCCAGAGCCCACC	0.637000													7	134					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177295	223177295	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223177295C>T	ENST00000284476.6	+	8	2720	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	852					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCAGCTGCTTCATTGAGACAT	0.488000													33	434					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33582181	33582181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33582181G>A	ENST00000262873.7	+	25	2895	c.2803G>A	c.(2803-2805)Gac>Aac	p.D935N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	893						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGAAGAATGACCTGGCCCT	0.677000													6	43					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142749564	142749564	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142749564A>G	ENST00000418316.1	+	1	148	c.127A>G	c.(127-129)Atc>Gtc	p.I43V		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					AAACACCATCATCATAGTTAT	0.488000													11	179					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64604419	64604419	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64604419C>T	ENST00000342711.5	-	10	1277	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	426					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCAGCTCCACCTTCTCCTGCT	0.642000													8	72					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25250979	25250979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:25250979G>A	ENST00000400358.4	+	6	529	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SGSM1_ENST00000400359.4_Missense_Mutation_p.E158K	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	158	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTATGAGAAGGAAGCTCTCCT	0.502000													4	30					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151151733	151151733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:151151733G>A	ENST00000367328.1	+	16	1798	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G496R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	496					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAGAGAGGAAGGATCTCCCCA	0.493000													4	33					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99139496	99139496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99139496G>A	ENST00000370992.4	-	14	1676	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	RRP12_ENST00000414986.1_Missense_Mutation_p.S461F|RRP12_ENST00000536831.1_Missense_Mutation_p.S240F|RRP12_ENST00000315563.6_Missense_Mutation_p.S422F	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	522						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAATGAGGGGAGAGGCGCAG	0.602000													12	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065029	9065029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9065029G>A	ENST00000397910.4	-	3	22620	c.22417C>T	c.(22417-22419)Cct>Tct	p.P7473S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7475	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGAGAAAGGATGAATTTTC	0.473000													4	39					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389268	129389268	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129389268G>A	ENST00000393238.3	-	4	1756	c.1416C>T	c.(1414-1416)acC>acT	p.T472T	TMCC1_ENST00000432054.2_Silent_p.T148T|TMCC1_ENST00000329333.5_Silent_p.T293T|TMCC1_ENST00000426664.2_Silent_p.T358T	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	472						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GTCTGGCCTGGGTTTCCCGGA	0.478000													4	66					0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46408064	46408064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46408064G>A	ENST00000433765.2	-	1	43	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	15					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CAGGCGCACGGACTGATTGCC	0.577000													7	85					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44189425	44189425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44189425C>T	ENST00000403799.3	-	6	1082	c.613G>A	c.(613-615)Gac>Aac	p.D205N	GCK_ENST00000395796.3_Missense_Mutation_p.D204N|GCK_ENST00000345378.2_Missense_Mutation_p.D206N|GCK_ENST00000437084.1_Missense_Mutation_p.D188N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	205	Substrate binding.				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCCACCGTGTCATTCACCATT	0.572000													38	475					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238638	48238638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48238638G>A	ENST00000309562.2	+	1	295	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CATCTCTCTGGAAGGCTGTCT	0.448000													7	46					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114899621	114899621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114899621G>A	ENST00000315366.7	-	1	1236	c.370C>T	c.(370-372)Cca>Tca	p.P124S	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.P124S	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	124						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTCCTGGATGGTGTGCAAATA	0.403000													9	49					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227242	25227242	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25227242C>T	ENST00000551631.2	+	0	545				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTAGACTTTTCGATTTCAAGA	0.348000													22	74					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822104	56822104	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56822104G>A	ENST00000229201.4	-	13	1645	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	TIMELESS_ENST00000553532.1_Silent_p.F498F|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	498					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGTCACGAAGGAAAGAGCGGG	0.522000													9	42					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42244161	42244161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42244161C>T	ENST00000327628.5	+	13	2061	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	TRAK1_ENST00000449246.1_Missense_Mutation_p.S480F|TRAK1_ENST00000341421.3_Missense_Mutation_p.S496F|TRAK1_ENST00000396175.1_Missense_Mutation_p.S496F|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	554					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCCCGCTTCTCCGAGTTCACC	0.642000													8	62					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590839	140590839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590839C>T	ENST00000239450.2	+	1	2549	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P450L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		787					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P787L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGAAAATCCCCCATTTCAG	0.373000													6	30					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	477505	477505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:477505C>T	ENST00000264938.3	-	11	1711	c.1702G>A	c.(1702-1704)Gtc>Atc	p.V568I	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.V559I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	568						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCCACGTTGACCACGTTGTCG	0.652000													4	37					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175323630	175323630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175323630C>T	ENST00000367674.1	-	18	3987	c.3279G>A	c.(3277-3279)tgG>tgA	p.W1093*	TNR_ENST00000263525.2_Nonsense_Mutation_p.W1093*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1093	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGTCGAATCCAGGTGTCTT	0.552000													4	25					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44104183	44104183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44104183C>T	ENST00000361807.3	+	3	340	c.146C>T	c.(145-147)tCt>tTt	p.S49F	ZNF485_ENST00000374435.3_Missense_Mutation_p.S49F|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AATCTGGTGTCTGTGGGTGAG	0.507000													4	50					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767827	31767827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:31767827G>A	ENST00000240587.4	-	2	3199	c.2872C>T	c.(2872-2874)Cga>Tga	p.R958*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	958					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTGTCCTTCGAAGCTGGTAT	0.542000													6	35					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27381694	27381694	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27381694C>T	ENST00000323372.4	+	5	1118	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	264					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAGGAGAGTACCCAGGGCTGA	0.567000													13	52					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455254	76455254	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76455254G>A	ENST00000389840.5	-	61	9772	c.9648C>T	c.(9646-9648)ttC>ttT	p.F3216F	DNAH17_ENST00000585328.1_Silent_p.F3225F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGCGGATGAACTCGGGGT	0.657000													20	384					0	0	1	0	0
ONECUT1	3175	broad.mit.edu	37	15	53081290	53081290	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:53081290G>A	ENST00000305901.5	-	1	919	c.792C>T	c.(790-792)ctC>ctT	p.L264L	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	264					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CTGTGCCCAGGAGTTGCCCGT	0.647000													7	151					0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320141	247320141	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247320141G>A	ENST00000340684.6	-	4	735	c.597C>T	c.(595-597)ccC>ccT	p.P199P	ZNF124_ENST00000543802.2_Silent_p.P261P|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000491356.1_Intron	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TACATGGATAGGGTTCTTCAC	0.428000													4	53					0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105276	60105276	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60105276C>T	ENST00000300182.4	+	2	275	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	70						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						GTTTCATTCTCCTGTCTGTCA	0.463000													6	69					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140802648	140802648	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140802648C>T	ENST00000398587.2	+	1	1887	c.1854C>T	c.(1852-1854)ttC>ttT	p.F618F	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.F618F|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACTCTTCGCGGTGGGGG	0.662000													7	55					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308208	72308208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72308208G>A	ENST00000579490.1	+	11	1867	c.1732G>A	c.(1732-1734)Gag>Aag	p.E578K	DNAI2_ENST00000446837.2_Missense_Mutation_p.E521K|DNAI2_ENST00000582036.1_Missense_Mutation_p.E509K|DNAI2_ENST00000311014.6_Missense_Mutation_p.E521K|DNAI2_ENST00000307504.5_Missense_Mutation_p.E378K			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	521					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGGCTGAAGGAGAAGGGTAA	0.647000									Kartagener syndrome				11	38					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141554382	141554382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:141554382G>A	ENST00000220592.5	-	14	1881	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	AGO2_ENST00000519980.1_Missense_Mutation_p.P590L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		AAAGATGACGGGCTGCTGGAA	0.647000													8	127					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226967	79226967	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79226967C>A	ENST00000374759.3	-	12	1745	c.1362G>T	c.(1360-1362)ctG>ctT	p.L454L	SLC38A10_ENST00000288439.5_Silent_p.L454L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	454					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGCCTGCTCCAGCTCCTCTC	0.657000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	105					0.184627	0.185667	1	1	0
PMFBP1	83449	broad.mit.edu	37	16	72163011	72163011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72163011C>T	ENST00000537465.1	-	13	2077	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G635E|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G490E			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	640										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCAAGTTCTCCCTCCATCAG	0.488000													19	215					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620080	56620080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56620080C>T	ENST00000321691.3	-	1	1649	c.1468G>A	c.(1468-1470)Gag>Aag	p.E490K	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	490										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGGAAACTCCTTTGGTGGT	0.473000													11	272					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23004504	23004504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:23004504G>A	ENST00000312584.3	-	4	546	c.452C>T	c.(451-453)tCc>tTc	p.S151F		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	151					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CATCTCAGGGGAGTTTTTATC	0.493000													11	164					0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613675	18613675	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:18613675C>T	ENST00000330423.3	+	5	1195	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	TUBA8_ENST00000316027.6_Silent_p.A308A	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	374					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCAGCGGGCCGTCTGCATGC	0.642000													6	63					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9248242	9248242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9248242C>T	ENST00000318602.7	-	16	2213	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	636					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGTCCTGGTCATTCAAAGGC	0.378000													7	77					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519807	23519807	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23519807G>A	ENST00000374619.1	-	1	1415	c.906C>T	c.(904-906)atC>atT	p.I302I	HTR1D_ENST00000314113.3_Silent_p.I302I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	302					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATGCCCAGGATTTTAGTGG	0.552000													29	88					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294866	5294866	+	Silent	SNP	G	G	A	rs149123899	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5294866G>A	ENST00000546004.1	-	2	396	c.150C>T	c.(148-150)ttC>ttT	p.F50F	PROKR2_ENST00000217270.3_Silent_p.F50F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	50						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCTTGGCTGCGAAGAAGGTCC	0.517000										HNSCC(71;0.22)			6	90					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9484673	9484673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:9484673C>T	ENST00000281419.3	+	10	1202	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	ASAP2_ENST00000315273.4_Missense_Mutation_p.R288C	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	288					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCCCAAATTCGTCAGAGCAC	0.443000													4	47					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099128	169099128	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169099128G>A	ENST00000494292.1	-	2	319	c.222C>T	c.(220-222)atC>atT	p.I74I	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	74							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAGGAATGGGGATATCATCAG	0.473000													4	13					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898645	36898645	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36898645C>T	ENST00000429976.2	-	12	2683	c.2436G>A	c.(2434-2436)aaG>aaA	p.K812K	TRANK1_ENST00000428977.2_Silent_p.K262K|TRANK1_ENST00000301807.6_Silent_p.K262K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	812					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGATTTTCTTCTTGATGACCT	0.512000													12	109					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579077	55579077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55579077G>A	ENST00000333973.2	+	1	224	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M45I(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGGGCATGATTGCACTGA	0.488000													9	102					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21232290	21232290	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21232290G>A	ENST00000233242.1	-	26	7577	c.7450C>T	c.(7450-7452)Cta>Tta	p.L2484L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2484					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTCCTGTAGGCTTTCCAGA	0.423000													125	315					0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206664990	206664990	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206664990C>T	ENST00000367120.3	+	18	2116	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	C1orf147_ENST00000367119.1_3'UTR|IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Silent_p.F496F	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	581					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGGTGAATTTCAGTCATTTAG	0.527000													10	50					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192646	41192646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41192646C>T	ENST00000220509.5	+	4	1969	c.1630C>T	c.(1630-1632)Cat>Tat	p.H544Y	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	544					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGCCTCTATCCATGAGCTGCT	0.562000													9	151					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033762	40033762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40033762G>A	ENST00000373233.3	-	37	7796	c.7619C>T	c.(7618-7620)cCa>cTa	p.P2540L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2540					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGCCATGGGTGGACTGAGGAG	0.562000													10	103					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980755	75980755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75980755G>A	ENST00000308508.5	-	3	2743	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	884	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATAGAGTGGGGAGAAATATGG	0.597000													5	37					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98645422	98645422	+	Missense_Mutation	SNP	C	C	T	rs1053814		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:98645422C>T	ENST00000261574.5	+	11	1090	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F	IPO5_ENST00000539640.1_Missense_Mutation_p.L161F|IPO5_ENST00000490680.1_Missense_Mutation_p.L286F	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	286					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATCGTCACCCTCTCTGAGAC	0.388000													8	15					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108489328	108489328	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:108489328C>A	ENST00000368983.3	+	1	102	c.98C>A	c.(97-99)tCg>tAg	p.S33*	NR2E1_ENST00000368986.4_Intron			Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCTTTAGGCTCGGGCCTACCC	0.622000													6	15					0.0293803	0.0296125	1	1	0
VARS	7407	broad.mit.edu	37	6	31746806	31746806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31746806G>A	ENST00000375663.3	-	29	4104	c.3664C>T	c.(3664-3666)Cgt>Tgt	p.R1222C		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1222					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGCAGCACGGCGTTCCCGC	0.662000													32	194					0	0	1	0	0
MTAP	4507	broad.mit.edu	37	9	21816760	21816760	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21816760C>T	ENST00000380172.4	+	3	374	c.168C>T	c.(166-168)gtC>gtT	p.V56V	MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Silent_p.V56V|MTAP_ENST00000460874.2_Silent_p.V73V|MTAP_ENST00000580900.1_Silent_p.V56V	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	56			V -> I (in dbSNP:rs7023954).		nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	TTGATTGCGTCCTCCTTGCAA	0.318000													15	86					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282993	39282993	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39282993G>A	ENST00000425054.2	-	5	875	c.876C>T	c.(874-876)ctC>ctT	p.L292L	KCNK16_ENST00000373229.5_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373227.4_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCCGGGATGGAGTGGTCTAA	0.567000													4	22					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475646	52475646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52475646C>T	ENST00000231721.2	-	6	610	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	204	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		ACCTCCACTTCGGAAGATCAT	0.637000													5	49					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039405	184039405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184039405C>T	ENST00000342981.4	+	9	1447	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F	EIF4G1_ENST00000435046.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L149F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L352F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L258F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L305F|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L181F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L352F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L345F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L181F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L258F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L345F	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	345					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCAGTCCTCTCCAGGCTCC	0.527000													7	79					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90141871	90141871	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:90141871G>A	ENST00000449207.2	-	2	100	c.81C>T	c.(79-81)gcC>gcT	p.A27A	PRDM7_ENST00000407825.1_5'UTR|PRDM7_ENST00000569206.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	27	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TGTCTTTGAAGGCATCTTTGA	0.433000													25	180					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43903465	43903465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43903465C>T	ENST00000562955.1	+	45	6229	c.6229C>T	c.(6229-6231)Cct>Tct	p.P2077S	SZT2_ENST00000372442.1_Missense_Mutation_p.P1235S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2134						peroxisome		p.P1235S(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGGGTCCTCGTTCTCC	0.567000													15	138					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2811636	2811636	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2811636C>T	ENST00000301740.8	+	11	1656	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	369	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCACTCCGCTCCTTGCTGAGC	0.612000													8	110					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628386	71628386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71628386G>A	ENST00000377276.2	-	1	653	c.623C>T	c.(622-624)cCc>cTc	p.P208L		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	208	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GATGATCTCGGGGGCCAGGTA	0.627000													4	30					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110146621	110146621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110146621C>T	ENST00000351050.3	-	7	1012	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	276					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	p.E276K(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTGATTTTTTCCTCAAAGAGG	0.393000													6	39					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756661	52756661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52756661C>T	ENST00000257901.3	-	6	1129	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	KRT85_ENST00000544265.1_Missense_Mutation_p.E140K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	352	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCAATCTCGGCCGTCAGC	0.592000													8	70					0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002701	6002701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6002701C>T	ENST00000244766.2	-	2	302	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	29						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TCGCACTTGCCCGCTGCTCTC	0.647000													5	41					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154561131	154561131	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154561131G>A	ENST00000404039.1	+	9	1283	c.696G>A	c.(694-696)gaG>gaA	p.E232E	DPP6_ENST00000377770.3_Silent_p.E296E|DPP6_ENST00000332007.3_Silent_p.E234E|DPP6_ENST00000427557.1_Silent_p.E189E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	296					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTTAGAGGAGATTTTGAAGA	0.507000													4	54					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946494	61946494	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61946494C>T	ENST00000280772.1	-	17	2255	c.2064G>A	c.(2062-2064)gcG>gcA	p.A688A	ANK3_ENST00000373827.2_Silent_p.A682A|ANK3_ENST00000503366.1_Silent_p.A671A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	688					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTCACATTCGCATTTCTAC	0.507000													4	20					0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886360	119886360	+	Missense_Mutation	SNP	C	C	T	rs150001619		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:119886360C>T	ENST00000464295.1	-	10	2409	c.1964G>A	c.(1963-1965)cGa>cAa	p.R655Q	GPR156_ENST00000461057.1_Missense_Mutation_p.R651Q|GPR156_ENST00000315843.3_Missense_Mutation_p.R655Q			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	655						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGAAGGTCTTCGTACTCTGGA	0.572000													7	65					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763580	102763580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102763580C>T	ENST00000370220.1	+	2	3788	c.725C>T	c.(724-726)tCc>tTc	p.S242F	LZTS2_ENST00000370223.3_Missense_Mutation_p.S242F			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	242	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		p.S242F(1)|p.S105F(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		ACCACCAGCTCCCCAGGCGGG	0.697000													7	61					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31573001	31573001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31573001G>A	ENST00000379416.3	-	25	2768	c.2720C>T	c.(2719-2721)cCc>cTc	p.P907L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	907					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CGTGTTGGAGGGAAGGTTGGT	0.567000													35	105					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459988	107459988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107459988C>T	ENST00000409382.3	-	2	1056	c.446G>A	c.(445-447)gGa>gAa	p.G149E	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G149E|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G149E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	149					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGAAGGGAATCCCAATGTCCC	0.612000													13	199					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975557	44975557	+	Missense_Mutation	SNP	T	T	A	rs140155770		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:44975557T>A	ENST00000340446.4	-	1	925	c.634A>T	c.(634-636)Aat>Tat	p.N212Y		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	212						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGCTGATATTTTTCTGCCCA	0.403000													5	71					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406178	144406178	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144406178G>A	ENST00000523676.1	-	8	1062	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TOP1MT_ENST00000521193.1_Silent_p.F219F|TOP1MT_ENST00000519148.1_Silent_p.F219F|TOP1MT_ENST00000329245.4_Silent_p.F317F			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	317					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCTTATCGATGAAATACAGGG	0.612000													6	85					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186016	143186016	+	Silent	SNP	G	G	A	rs141105678		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:143186016G>A	ENST00000316549.6	-	12	1540	c.1332C>T	c.(1330-1332)atC>atT	p.I444I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	444					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCAAATGCGATCGCTCCTC	0.428000													4	15					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762143	101762143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:101762143C>T	ENST00000334289.3	-	9	1629	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	345	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GTGATGAATGCCATTTAGATT	0.448000													4	49					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711950	140711950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140711950C>T	ENST00000517417.1	+	1	1699	c.1699C>T	c.(1699-1701)Ctc>Ttc	p.L567F	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L567F	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCCCGCCCTCCCCACAGA	0.672000													17	105					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785617	1785617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1785617C>T	ENST00000539485.1	-	26	3507	c.3274G>A	c.(3274-3276)Gcc>Acc	p.A1092T	ATP8B3_ENST00000310127.6_Missense_Mutation_p.A1082T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A1045T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1082					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCGATGGCTTGGACGAAG	0.612000													4	32					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72519788	72519788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72519788C>T	ENST00000392621.1	-	3	488	c.484G>A	c.(484-486)Gga>Aga	p.G162R	CD300LB_ENST00000314401.3_Missense_Mutation_p.G162R	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	125						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GAAGCCGCTCCCTCTAGACAC	0.552000													7	56					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495472	6495472	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6495472G>A	ENST00000264071.2	-	4	1409	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	TUBB4A_ENST00000540257.1_Silent_p.P346P			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	346					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TCACGTTGTTGGGGATCCACT	0.632000													35	207					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37791993	37791993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37791993C>T	ENST00000307599.4	-	9	1183	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	362					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCAGGTATTCCACCTGCTGG	0.423000													6	121					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085016	44085016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44085016G>A	ENST00000359947.4	+	28	5044	c.4704G>A	c.(4702-4704)atG>atA	p.M1568I	PTPRF_ENST00000438120.1_Missense_Mutation_p.M1559I|PTPRF_ENST00000422171.2_Missense_Mutation_p.M927I|PTPRF_ENST00000372414.3_Missense_Mutation_p.M1568I|PTPRF_ENST00000372413.3_Missense_Mutation_p.M1559I|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1568	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGGAGCGGATGAAGCACGAGA	0.607000													9	36					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43520130	43520130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:43520130G>A	ENST00000405006.4	-	32	5012	c.4661C>T	c.(4660-4662)cCt>cTt	p.P1554L	THADA_ENST00000405975.2_Missense_Mutation_p.P1554L|THADA_ENST00000415080.2_Missense_Mutation_p.P1235L|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1554							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCGCACTTCAGGGAAGGCAGA	0.557000													24	429					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56874097	56874097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56874097C>T	ENST00000311966.4	-	2	535	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	GLS2_ENST00000539272.1_Missense_Mutation_p.R86Q	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	86					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATAGGGATTCGTTCCTGTCC	0.478000													8	67					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14562679	14562679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14562679C>T	ENST00000242783.6	+	7	1174	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PKN1_ENST00000342216.4_Missense_Mutation_p.P343S	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	337	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAGACCTCCCAGAGACCAT	0.692000													6	26					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17892525	17892525	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17892525C>T	ENST00000594202.1	+	23	2112	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	FCHO1_ENST00000600676.1_Silent_p.V611V|FCHO1_ENST00000389133.4_Silent_p.V611V|FCHO1_ENST00000539407.1_Silent_p.V611V|FCHO1_ENST00000252771.7_Silent_p.V611V|FCHO1_ENST00000596536.1_Silent_p.V611V|FCHO1_ENST00000596951.1_Silent_p.V611V|FCHO1_ENST00000595033.1_Silent_p.V561V|FCHO1_ENST00000597512.1_Silent_p.V618V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	611										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCCCAGGAGTCTCCCGGGGTC	0.627000													28	116					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891683	70891683	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:70891683G>A	ENST00000393567.2	-	72	12370	c.12220C>T	c.(12220-12222)Ctg>Ttg	p.L4074L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4074										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTACCAGCAGGAAAGGGACT	0.478000													4	23					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972595	40972595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40972595C>T	ENST00000313164.9	+	15	2332	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	658	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGACTGTTTCCTGTTCAGGT	0.458000													9	32					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776069	5776069	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5776069C>T	ENST00000317254.3	+	1	147	c.99C>T	c.(97-99)ttC>ttT	p.F33F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCTTCCCATTCTGCTCTATGT	0.443000													4	11					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11166831	11166831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:11166831G>A	ENST00000380732.3	-	12	2011	c.2012C>T	c.(2011-2013)tCt>tTt	p.S671F	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.S448F|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	639					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						cggaagcacagaacttgttct	0.582000													4	14					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237033	42237033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42237033C>T	ENST00000541110.1	-	5	864	c.296G>A	c.(295-297)gGa>gAa	p.G99E	TRERF1_ENST00000354325.2_Missense_Mutation_p.G99E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G99E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G99E|TRERF1_ENST00000372922.4_Missense_Mutation_p.G99E			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	99					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGGTTTCCACGTAGCTG	0.592000													22	126					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771114	74771114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74771114C>T	ENST00000588460.1	+	11	2952	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	MFSD11_ENST00000355954.3_Missense_Mutation_p.R252C|MFSD11_ENST00000593181.1_Missense_Mutation_p.R252C|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000336509.4_Missense_Mutation_p.R304C|MFSD11_ENST00000590514.1_Missense_Mutation_p.R304C|MFSD11_ENST00000586622.1_Missense_Mutation_p.R304C	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	304						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAAGAACAATCGTTTTGGTAG	0.468000													38	149					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026072	32026072	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32026072C>G	ENST00000375244.3	-	22	7789	c.7588G>C	c.(7588-7590)Gtg>Ctg	p.V2530L	TNXB_ENST00000375247.2_Missense_Mutation_p.V2530L			P22105	TENX_HUMAN	tenascin XB	2590	Fibronectin type-III 17.				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						GATCCTGTCACTGTCAGCTCC	0.662000													26	336					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15197948	15197948	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15197948G>A	ENST00000209540.2	+	1	158	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CAGAGCATCAGACCCTCCTCT	0.478000													12	47					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346604	72346604	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72346604C>T	ENST00000389916.4	+	11	1416	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	426					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGAGCAGCTCGCCAGCGCCT	0.657000													5	21					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331560	17331560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17331560G>A	ENST00000452699.1	-	4	485	c.296C>T	c.(295-297)tCc>tTc	p.S99F	ATP13A2_ENST00000326735.8_Missense_Mutation_p.S99F|ATP13A2_ENST00000341676.5_Missense_Mutation_p.S99F|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	99					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GAGCTGCCAGGAACTATCCTG	0.637000													13	31					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331226	55331226	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55331226G>A	ENST00000391728.4	+	4	447	c.414G>A	c.(412-414)gaG>gaA	p.E138E	KIR3DL1_ENST00000326542.7_Silent_p.E138E|KIR3DL1_ENST00000402254.2_Silent_p.E138E|KIR3DL1_ENST00000541392.1_Silent_p.E138E|KIR3DL1_ENST00000538269.1_Silent_p.E138E|KIR3DL1_ENST00000358178.4_Silent_p.E43E	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGGAGAGAGAGTCATCC	0.488000													10	78					0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202073923	202073923	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:202073923C>T	ENST00000286186.6	+	9	1488	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Silent_p.F308F|CASP10_ENST00000272879.5_Silent_p.F351F|CASP10_ENST00000448480.1_Silent_p.F308F|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Silent_p.F284F	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	351					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GGGACTGCTTCGTGTTCTGTA	0.512000													4	58					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151945093	151945093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151945093C>T	ENST00000355193.2	-	14	2644	c.2426G>A	c.(2425-2427)gGa>gAa	p.G809E	KMT2C_ENST00000262189.6_Missense_Mutation_p.G809E					lysine (K)-specific methyltransferase 2C																		CATGATGTTTCCAGCAGAGGA	0.448000													5	168					0	0	1	0	0
EXOSC9	5393	broad.mit.edu	37	4	122722619	122722619	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:122722619C>T	ENST00000379663.3	+	1	145	c.40C>T	c.(40-42)Cta>Tta	p.L14L	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.L14L	NM_001034194.1	NP_001029366.1	Q06265	EXOS9_HUMAN	exosome component 9	14	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						ACGCCGCTTCCTACTCCGTGC	0.592000													15	57					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45624608	45624608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:45624608C>T	ENST00000267430.5	+	8	1427	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	FANCM_ENST00000556036.1_Missense_Mutation_p.P448S|FANCM_ENST00000542564.2_Missense_Mutation_p.P422S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	448					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTATAGTCATCCAAAGTTAAA	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	10					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183694776	183694776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694776G>A	ENST00000511685.1	+	23	5167	c.5044G>A	c.(5044-5046)Gat>Aat	p.D1682N	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Missense_Mutation_p.D1682N					teneurin transmembrane protein 3																		GTCCTCGATCGATTCTTTCTA	0.463000													30	112					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23826108	23826108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:23826108G>A	ENST00000264867.2	-	6	900	c.781C>T	c.(781-783)Cct>Tct	p.P261S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	261					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGGTCAGAGGAAGAGATAAA	0.348000													6	48					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487731	108487731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:108487731G>A	ENST00000408999.3	+	20	3348	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1091K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1091	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCAAAAACGAGGTCAATGG	0.408000													10	126					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81558908	81558908	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:81558908C>T	ENST00000541158.2	+	7	823	c.501C>T	c.(499-501)atC>atT	p.I167I	TSHR_ENST00000554263.1_Silent_p.I167I|TSHR_ENST00000298171.2_Silent_p.I167I|TSHR_ENST00000554435.1_Silent_p.I167I|TSHR_ENST00000342443.6_Silent_p.I167I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	167			I -> N (in CHNG1).		cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGACGTCAATCCCTGTGAATG	0.408000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						3	25					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656823	31656823	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31656823G>A	ENST00000375842.4	-	13	1484	c.498C>T	c.(496-498)ccC>ccT	p.P166P	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Silent_p.P385P|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000440843.2_Silent_p.P352P			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	385						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCAAGGCCAAGGGCACCAGGT	0.587000													11	193					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610066	47610066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47610066G>A	ENST00000371890.3	+	6	709	c.673G>A	c.(673-675)Gga>Aga	p.G225R	CYP4A22_ENST00000371891.3_Silent_p.K276K|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.K276K|CYP4A22_ENST00000485117.1_3'UTR			Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	0				N -> S (in Ref. 2; AAQ21368).		endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTACAGAAGGAGGGGGAGC	0.532000													4	91					0	0	1	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294165	28294165	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:28294165G>A	ENST00000414429.1	-	8	1902	c.999C>T	c.(997-999)ctC>ctT	p.L333L	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Silent_p.L174L|ZSCAN31_ENST00000344279.6_Silent_p.L333L|ZSCAN31_ENST00000439158.1_Silent_p.L333L|ZSCAN31_ENST00000396838.2_Silent_p.L333L					zinc finger and SCAN domain containing 31																		ATGAGCTGAGGAGGAAAGCCT	0.502000													7	126					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445618	78445618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78445618C>T	ENST00000306773.4	-	4	1148	c.991G>A	c.(991-993)Gat>Aat	p.D331N		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	331	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGCGTGCCATCCTGGTAGGCC	0.622000													6	53					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962364	129962364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:129962364G>A	ENST00000222482.4	+	11	1142	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	CPA4_ENST00000445470.2_Missense_Mutation_p.D339N|CPA4_ENST00000493259.1_Missense_Mutation_p.D268N	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	372					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CTGGGCATATGACAACGGCAT	0.532000													7	73					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134059437	134059437	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134059437G>A	ENST00000368625.4	-	2	409	c.324C>T	c.(322-324)atC>atT	p.I108I	STK32C_ENST00000368622.1_5'UTR			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	95	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TGGCCCGAAGGATCTGGAAGT	0.627000													13	54					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870087	189870087	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189870087G>A	ENST00000304636.3	+	41	3113	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	981	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G981G(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAGTGGGAAACCAGGAG	0.428000													6	58					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34112369	34112369	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34112369G>A	ENST00000373381.4	-	29	4829	c.4653C>T	c.(4651-4653)ctC>ctT	p.L1551L	CSMD2_ENST00000373380.1_Silent_p.L424L|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1511	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTTCCTATGAGAGGGCTGA	0.567000													8	18					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594763	104594763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:104594763C>T	ENST00000369887.3	-	3	616	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	149					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTACTGATTTCCTGACAAACT	0.517000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	55					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174228591	174228591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174228591C>T	ENST00000306721.3	+	5	770	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	CDCA7_ENST00000347703.3_Missense_Mutation_p.R144C|CDCA7_ENST00000410019.3_Missense_Mutation_p.R102C|CDCA7_ENST00000410101.3_Missense_Mutation_p.R179C|CDCA7_ENST00000392567.2_Missense_Mutation_p.R144C	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	144					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TGGCTCGTTCCGTGGAAGACA	0.418000													8	173					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141320084	141320084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:141320084C>T	ENST00000325617.5	-	8	1245	c.805G>A	c.(805-807)Gat>Aat	p.D269N	CLGN_ENST00000537281.1_Missense_Mutation_p.D269N|CLGN_ENST00000414773.1_Missense_Mutation_p.D269N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	269					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCATTGGGATCTTCAATTTCT	0.408000													5	87					0	0	1	0	0
GRHPR	9380	broad.mit.edu	37	9	37424932	37424932	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:37424932C>T	ENST00000607784.1	+	2	179	c.174C>T	c.(172-174)ctC>ctT	p.L58L	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Silent_p.L58L			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	58					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TGCTCTGCCTCCTCTCCGACC	0.672000													4	54					0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99969997	99969997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:99969997C>T	ENST00000296411.6	+	9	1035	c.901C>T	c.(901-903)Cat>Tat	p.H301Y	METAP1_ENST00000544031.1_Missense_Mutation_p.H251Y	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	301					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAAGCTTTTTCATACAGCTCC	0.388000													7	62					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606251	1606251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1606251C>T	ENST00000382171.2	-	1	262	c.229G>A	c.(229-231)Ggg>Agg	p.G77R	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	77	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCCCCCTTGGAGCCC	0.677000													6	98					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19501790	19501790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19501790G>A	ENST00000396229.2	+	18	3396	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	TMC5_ENST00000564959.1_Missense_Mutation_p.D566N|TMC5_ENST00000561503.1_Missense_Mutation_p.D524N|TMC5_ENST00000542583.2_Missense_Mutation_p.D883N|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.D637N|TMC5_ENST00000541464.1_Missense_Mutation_p.D831N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	883						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCTGGATCGACACCCTAAG	0.483000													13	160					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202196	6202196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6202196G>A	ENST00000262450.3	-	15	2527	c.2428C>T	c.(2428-2430)Cgt>Tgt	p.R810C	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	810	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCATACGGAATACCTTC	0.592000													39	143					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43520131	43520131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:43520131G>A	ENST00000405006.4	-	32	5011	c.4660C>T	c.(4660-4662)Cct>Tct	p.P1554S	THADA_ENST00000405975.2_Missense_Mutation_p.P1554S|THADA_ENST00000415080.2_Missense_Mutation_p.P1235S|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1554							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CGCACTTCAGGGAAGGCAGAT	0.557000													26	425					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000149	56000149	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56000149A>G	ENST00000313264.4	-	1	588	c.513T>C	c.(511-513)taT>taC	p.Y171Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGCTCACTGAATACAGGAGAG	0.443000													10	70					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126379116	126379116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:126379116C>T	ENST00000287437.3	+	8	949	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	NSMCE2_ENST00000521460.1_3'UTR|NSMCE2_ENST00000522563.1_Missense_Mutation_p.H245Y|NSMCE2_ENST00000517315.1_Missense_Mutation_p.H185Y	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	245					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AAGACATCGTCATTCCGAGTA	0.498000													13	143					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158813902C>T	ENST00000368141.4	+	4	821	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000													10	84					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248262956	248262956	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248262956C>T	ENST00000366478.2	+	3	616	c.279C>T	c.(277-279)ttC>ttT	p.F93F	OR2L13_ENST00000358120.2_Silent_p.F93F	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCATCTCCTTCCTGGGATGTG	0.542000													7	120					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509945	41509945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41509945G>A	ENST00000324071.4	+	2	218	c.211G>A	c.(211-213)Gga>Aga	p.G71R	CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.G31R|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	71					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GGTACACCTGGGACCGAGGCC	0.557000													4	56					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824989	74824989	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74824989G>A	ENST00000256362.4	+	2	1744	c.1503G>A	c.(1501-1503)agG>agA	p.R501R		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	501					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						TGCCACTAAGGATGCCCCTGT	0.672000													5	91					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6274874	6274874	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6274874G>T	ENST00000379775.4	+	15	1862	c.1532G>T	c.(1531-1533)cGg>cTg	p.R511L	PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.R525L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.R491L|PFKFB3_ENST00000379785.1_3'UTR|PFKFB3_ENST00000360521.2_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	511	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.R511L(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						AAAGGCTCCCGGAGCAGCGCT	0.537000													4	128					1	1	1	1	0
ADAMTS10	81794	broad.mit.edu	37	19	8669951	8669951	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8669951G>A	ENST00000270328.4	-	3	647	c.381C>T	c.(379-381)caC>caT	p.H127H	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.H127H			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	127					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCCCTGCAGGTGACCAGCGT	0.662000													5	21					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9406785	9406785	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:9406785C>T	ENST00000345094.3	+	2	367	c.33C>T	c.(31-33)ctC>ctT	p.L11L	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.L11L|THUMPD3_ENST00000452837.2_Silent_p.L11L	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	11							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		CTAACCAACTCCTAGATGTGA	0.428000													5	71					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112029764	112029764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112029764C>T	ENST00000374566.3	-	4	1039	c.522G>A	c.(520-522)gaG>gaA	p.E174E	EPB41L4B_ENST00000374557.4_Silent_p.E174E	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	174	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTAAACTCCTCACGAAGGT	0.443000													6	44					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116730317	116730317	+	Missense_Mutation	SNP	G	G	A	rs36096777		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:116730317G>A	ENST00000375300.1	-	19	2290	c.2285C>T	c.(2284-2286)gCt>gTt	p.A762V	SIK3_ENST00000434315.2_Missense_Mutation_p.A603V|SIK3_ENST00000542607.1_Missense_Mutation_p.A704V|SIK3_ENST00000292055.4_Missense_Mutation_p.A704V|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.A762V|SIK3_ENST00000375288.1_Missense_Mutation_p.A99V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	704	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGAAGATGCAGCCCCTGGAGA	0.527000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	113					0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713960	42713960	+	Missense_Mutation	SNP	G	G	A	rs150206484		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42713960G>A	ENST00000595337.1	-	4	568	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DEDD2_ENST00000596251.1_Missense_Mutation_p.R161W|DEDD2_ENST00000598727.1_Missense_Mutation_p.R161W|DEDD2_ENST00000336034.4_Missense_Mutation_p.R156W|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	161					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GGCCGGCCCCGACTCCGCCGC	0.667000													4	42					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126139194	126139194	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126139194C>T	ENST00000373631.3	+	13	3712	c.3711C>T	c.(3709-3711)ctC>ctT	p.L1237L	CRB2_ENST00000373629.2_Silent_p.L905L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	1237						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TCCTCCTCCTCCTCCTGGGCC	0.687000													5	20					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901600	149901600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149901600G>A	ENST00000439741.2	-	16	2106	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	MTMR11_ENST00000369140.3_Missense_Mutation_p.P547L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	619	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGCCCTGGAGGTAAAGGGCA	0.592000													7	92					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79366681	79366681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79366681C>T	ENST00000264895.6	+	42	6111	c.5671C>T	c.(5671-5673)Cgt>Tgt	p.R1891C	FRAS1_ENST00000325942.6_Missense_Mutation_p.R1891C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1890					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						TGCAGGTGATCGTTTTGGCCC	0.393000													5	34					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832764	150832764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150832764G>A	ENST00000370357.4	+	11	1260	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	339						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTGATGGATCCAGTGGA	0.597000													6	19					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68154022	68154022	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68154022C>T	ENST00000294304.7	+	6	1360	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	418	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAACGACCCCGATGGCATCG	0.657000													10	73					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283894	130283894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130283894G>A	ENST00000358511.6	+	3	749	c.718G>A	c.(718-720)Gga>Aga	p.G240R	COL6A6_ENST00000453409.2_Missense_Mutation_p.G240R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	240	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTCAATCAATGGAAGTGAGGA	0.428000													14	103					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22696803	22696803	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:22696803C>T	ENST00000400546.1	+	6	969	c.720C>T	c.(718-720)ccC>ccT	p.P240P	NCAM2_ENST00000284894.7_Silent_p.P98P|NCAM2_ENST00000535285.1_Silent_p.P265P	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	240	Ig-like C2-type 3.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTCCAGAACCCGCCATCTCCT	0.493000													3	18					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17699768	17699768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:17699768C>T	ENST00000353383.1	+	3	3975	c.3506C>T	c.(3505-3507)cCc>cTc	p.P1169L	RAI1_ENST00000261641.6_Missense_Mutation_p.P1169L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1169						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCGGCTCCCCAACTGCCGT	0.647000													10	47					0	0	1	0	0
ACKR2	1238	broad.mit.edu	37	3	42906917	42906917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42906917C>T	ENST00000422265.1	+	3	1098	c.923C>T	c.(922-924)tCc>tTc	p.S308F	ACKR2_ENST00000273145.2_Missense_Mutation_p.S308F|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.S308F|ACKR2_ENST00000471537.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2									p.S308F(1)									TGCTGCTTTTCCCCCATCCTG	0.577000													6	108					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155750078	155750078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155750078G>A	ENST00000159060.2	-	9	1097	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	332	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	p.S332L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCACTCCAGCGAAGATATGGC	0.577000													4	67					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222527	27222527	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27222527C>T	ENST00000230582.3	+	10	1221	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.S145S	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	402					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CACTGCCCTCCCAGCTAGACC	0.577000													9	74					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492408	73492408	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73492408C>T	ENST00000314256.7	+	24	3493	c.3099C>T	c.(3097-3099)acC>acT	p.T1033T	KIAA0195_ENST00000375248.5_Silent_p.T1043T|KIAA0195_ENST00000579208.1_Silent_p.T684T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1033					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGAGACCTTTGGCTACG	0.622000													16	43					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39282888	39282888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39282888C>T	ENST00000373229.5	-	6	833	c.820G>A	c.(820-822)Gga>Aga	p.G274R	KCNK16_ENST00000507712.1_Missense_Mutation_p.G162R|KCNK16_ENST00000373227.4_Missense_Mutation_p.G227R|KCNK16_ENST00000425054.2_3'UTR	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	274						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCTTGGCTCCACAGCCTTGC	0.587000													9	72					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11854584	11854584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11854584G>A	ENST00000376592.1	-	7	1306	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	MTHFR_ENST00000376583.3_Missense_Mutation_p.S434F|MTHFR_ENST00000376585.1_Missense_Mutation_p.S434F|MTHFR_ENST00000376590.3_Missense_Mutation_p.S393F			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	393					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGCAGGGGAAGAGGAATTGCC	0.597000													18	54					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41796211	41796211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41796211G>A	ENST00000263800.6	-	20	2674	c.2578C>T	c.(2578-2580)Ccc>Tcc	p.P860S	LTK_ENST00000561619.1_Missense_Mutation_p.P558S|LTK_ENST00000355166.5_Missense_Mutation_p.P799S|LTK_ENST00000453182.2_Missense_Mutation_p.P730S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	860					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGATAAGTGGGATTCCAAAGG	0.602000										TSP Lung(18;0.14)			5	47					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72976923	72976923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:72976923G>A	ENST00000553530.1	+	14	1234	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	RGS6_ENST00000406236.4_Missense_Mutation_p.D343N|RGS6_ENST00000553525.1_Missense_Mutation_p.D343N|RGS6_ENST00000407322.4_Missense_Mutation_p.D343N|RGS6_ENST00000343854.6_Missense_Mutation_p.D306N|RGS6_ENST00000556437.1_Missense_Mutation_p.D343N|RGS6_ENST00000434263.2_Missense_Mutation_p.D274N|RGS6_ENST00000355512.6_Missense_Mutation_p.D343N|RGS6_ENST00000554782.1_Missense_Mutation_p.D204N|RGS6_ENST00000402788.2_Missense_Mutation_p.D343N|RGS6_ENST00000404301.2_Missense_Mutation_p.D343N|RGS6_ENST00000555571.1_Missense_Mutation_p.D343N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	343	RGS.				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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GATATTGAAGGACCAGGTGGG	0.463000													16	131					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529915	43529915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:43529915C>T	ENST00000306846.3	-	10	1551	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	PAIP1_ENST00000338972.4_Missense_Mutation_p.G328E|PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	440	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAAATCTGTTCCATTTTCTTC	0.348000													5	34					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191868	66191868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66191868C>T	ENST00000311034.2	+	7	1683	c.1507C>T	c.(1507-1509)Ccc>Tcc	p.P503S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	503					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGTTGACTCCCTGCACCTC	0.592000													32	190					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50357706	50357706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50357706C>T	ENST00000391842.1	+	2	385	c.215C>T	c.(214-216)tCc>tTc	p.S72F	PTOV1_ENST00000221557.9_Missense_Mutation_p.S40F|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601638.1_Missense_Mutation_p.S40F|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.S40F|PTOV1_ENST00000599732.1_Missense_Mutation_p.S72F|PTOV1_ENST00000601675.1_Missense_Mutation_p.S72F	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ATCGGTCCCTCCTCACCTGGG	0.667000													20	125					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46392918	46392918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46392918C>T	ENST00000454345.1	+	8	1315	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000318201.8_Missense_Mutation_p.S186L|DGKZ_ENST00000527911.1_Missense_Mutation_p.S209L|DGKZ_ENST00000421244.2_Missense_Mutation_p.S209L|DGKZ_ENST00000343674.6_Missense_Mutation_p.S225L|DGKZ_ENST00000532868.2_Missense_Mutation_p.S213L|DGKZ_ENST00000395574.3_Missense_Mutation_p.S175L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.S208L	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	397					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATCAGCTGCTCGTGGTGCAAG	0.642000													8	95					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769359	88769359	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88769359C>T	ENST00000444431.1	+	0	3959				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTGAGCTGTCCCTGGGCCAGC	0.592000													13	140					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101804382	101804382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101804382G>A	ENST00000375001.3	+	24	2990	c.2567G>A	c.(2566-2568)gGa>gAa	p.G856E		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	856	Triple-helical region 4 (COL4).				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)				GGACTAAAAGGAGAACAGGTA	0.418000													4	54					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510695	207510695	+	Missense_Mutation	SNP	C	C	T	rs12135160		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207510695C>T	ENST00000367064.3	+	8	1259	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367063.2_Missense_Mutation_p.S334F|CD55_ENST00000367062.4_Missense_Mutation_p.S334F|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.S334F|CD55_ENST00000391921.4_Missense_Mutation_p.S270F|CD55_ENST00000367065.5_Missense_Mutation_p.S334F|CD55_ENST00000391920.4_Missense_Mutation_p.S334F	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	334	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACACCTGTTTCCAGGACAACC	0.423000													4	29					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642775	57642775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:57642775G>A	ENST00000254181.4	+	4	3186	c.2732G>A	c.(2731-2733)gGg>gAg	p.G911E	USP29_ENST00000598197.1_Missense_Mutation_p.G911E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	911					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCCTCAGGGGGAATACGAA	0.468000													7	63					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766120	77766120	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77766120C>T	ENST00000521891.2	+	10	7411	c.6963C>T	c.(6961-6963)ttC>ttT	p.F2321F	ZFHX4_ENST00000518282.1_Silent_p.F2295F|ZFHX4_ENST00000050961.6_Silent_p.F2276F|ZFHX4_ENST00000455469.2_Silent_p.F2276F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTGGTTTTCCCCAGGATCT	0.393000										HNSCC(33;0.089)			9	49					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147119331	147119331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147119331G>A	ENST00000369238.5	-	10	1628	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	394					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CATGTCCAGCGGGCAGAGCCC	0.502000													7	56					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16918164	16918164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:16918164C>T	ENST00000310398.2	-	2	149	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	AGR3_ENST00000402239.3_Missense_Mutation_p.E27K	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	27						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGCCTCTTTTCCTTTTTTATT	0.403000													10	48					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845802	123845802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123845802G>A	ENST00000369005.1	+	4	4127	c.3787G>A	c.(3787-3789)Gct>Act	p.A1263T	TACC2_ENST00000453444.2_Missense_Mutation_p.A1263T|TACC2_ENST00000334433.3_Missense_Mutation_p.A1263T|TACC2_ENST00000515603.1_Missense_Mutation_p.A1263T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A1263T|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGACCCCAGAGCTCCTGGCGA	0.597000													7	61					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47122386	47122386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:47122386C>T	ENST00000290341.3	+	12	1688	c.1354C>T	c.(1354-1356)Cgt>Tgt	p.R452C	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.R313C	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	452	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R452G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTCCAAAGTTCGTATGGTTAT	0.468000													25	101					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955324	116955324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116955324C>T	ENST00000265441.3	-	3	688	c.389G>A	c.(388-390)gGa>gAa	p.G130E	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	130					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTTTACTTCTCCTTGGCTACA	0.453000													4	27					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10791923	10791923	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10791923C>T	ENST00000449870.1	+	11	1415	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A	ILF3_ENST00000318511.3_Silent_p.A366A|ILF3_ENST00000589998.1_Silent_p.A366A|ILF3_ENST00000250241.8_Silent_p.A366A|ILF3_ENST00000420083.1_Silent_p.A366A|ILF3_ENST00000592763.1_Silent_p.A366A|ILF3_ENST00000590261.1_Silent_p.A366A|ILF3_ENST00000407004.3_Silent_p.A366A|ILF3_ENST00000588657.1_Silent_p.A366A	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	366					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCACCTATGCCATTACGCCCA	0.572000													25	124					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81665026	81665026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:81665026C>T	ENST00000558726.1	-	2	277	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	TMC3_ENST00000359440.5_Missense_Mutation_p.E48K			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	48						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AAGATTTGTTCCGGATCATTG	0.448000													4	29					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	rs148996529	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000423795.1_Missense_Mutation_p.S515L|CPED1_ENST00000450913.2_Missense_Mutation_p.S735L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468000													4	38					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44278886	44278886	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44278886G>A	ENST00000244571.4	-	4	596	c.594C>T	c.(592-594)agC>agT	p.S198S		NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	198					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AAAGCACACGGCTAGCAGGCA	0.587000													7	62					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97475082	97475082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97475082G>A	ENST00000377075.2	+	7	2254	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	CNNM4_ENST00000540067.1_Silent_p.R235R	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	719					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACCAGAACGGGCTGCTGGCT	0.592000													5	40					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657540	72657540	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657540C>T	ENST00000425256.1	-	0	2371					NR_002164.1																						cattgcaggtcgataacctcc	0.502000													23	182					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601981	43601981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:43601981C>T	ENST00000355710.3	+	5	1257	c.1025C>T	c.(1024-1026)gCc>gTc	p.A342V	RET_ENST00000340058.5_Missense_Mutation_p.A342V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	342					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCGGTCCAGGCCAACGGCAGC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	27					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609702	60609702	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60609702C>T	ENST00000227520.5	+	1	159	c.105C>T	c.(103-105)ttC>ttT	p.F35F	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	35					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TTGTGGAGTTCGAGTCGAACC	0.657000													9	31					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640520	3640520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3640520G>A	ENST00000294008.3	-	12	3759	c.3119C>T	c.(3118-3120)cCc>cTc	p.P1040L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1040	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCGCCCTGGGGAGGCCCCAA	0.667000								Direct reversal of damage					9	120					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701885	56701885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56701885C>T	ENST00000586855.2	-	5	1112	c.799G>A	c.(799-801)Gat>Aat	p.D267N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.D267N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	267					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCAGCATCCACATTTTCC	0.502000													9	103					0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452353	17452353	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17452353T>C	ENST00000324894.8	+	9	1388	c.1320T>C	c.(1318-1320)ggT>ggC	p.G440G	GTPBP3_ENST00000358792.7_Silent_p.G472G|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Silent_p.G462G|GTPBP3_ENST00000600625.1_Silent_p.G419G	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	440					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACCTCCAGGGTTGCCTGGATG	0.667000													3	76					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678708	64678708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64678708G>A	ENST00000421419.2	-	10	1382	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ATG2A_ENST00000377264.3_Missense_Mutation_p.P423L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	423							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGCGAGTCAGGGCGCATGGT	0.627000													11	83					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288974	130288974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:130288974C>T	ENST00000257359.6	-	2	1640	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		ATGGCCGTGTCGTAGTGCTCT	0.642000													8	148					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035853	37035853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:37035853C>T	ENST00000379242.3	+	15	1930	c.1628C>T	c.(1627-1629)tCc>tTc	p.S543F	VIT_ENST00000401530.1_Missense_Mutation_p.S507F|VIT_ENST00000404084.1_Missense_Mutation_p.S480F|VIT_ENST00000497382.1_Missense_Mutation_p.S197F|VIT_ENST00000389975.3_Missense_Mutation_p.S528F|VIT_ENST00000379241.3_Missense_Mutation_p.S506F	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	528	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTTGAGATTTCCGACACGGAC	0.582000													6	73					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2132987	2132987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2132987G>A	ENST00000511885.2	-	17	2115	c.1762C>T	c.(1762-1764)Cag>Tag	p.Q588*	POLN_ENST00000382865.1_Nonsense_Mutation_p.Q588*			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	588					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTAGTAATCTGAATTGGGTGC	0.343000								DNA polymerases (catalytic subunits)					4	63					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120593413	120593413	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120593413G>A	ENST00000300648.6	-	29	3435	c.3423C>T	c.(3421-3423)atC>atT	p.I1141I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1141					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGCTTCCGGATCTCCTCCT	0.522000													7	89					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71892420	71892420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71892420C>T	ENST00000258104.3	+	46	5463	c.5186C>T	c.(5185-5187)tCc>tTc	p.S1729F	DYSF_ENST00000394120.2_Missense_Mutation_p.S1730F|DYSF_ENST00000413539.2_Missense_Mutation_p.S1760F|DYSF_ENST00000409762.1_Missense_Mutation_p.S1746F|DYSF_ENST00000410041.1_Missense_Mutation_p.S1747F|DYSF_ENST00000409651.1_Missense_Mutation_p.S1761F|DYSF_ENST00000409744.1_Missense_Mutation_p.S1737F|DYSF_ENST00000429174.2_Missense_Mutation_p.S1750F|DYSF_ENST00000410020.3_Missense_Mutation_p.S1768F|DYSF_ENST00000409582.3_Missense_Mutation_p.S1767F|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.S1751F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1729						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AAAGAATATTCCATTGAAGAG	0.532000													15	61					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38568006	38568006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38568006G>A	ENST00000423485.1	-	8	1012	c.854C>T	c.(853-855)tCc>tTc	p.S285F		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	285					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TACTTTCAAGGAGTTACCAGT	0.358000													10	29					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10077060	10077060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10077060G>A	ENST00000264828.3	-	64	4797	c.4712C>T	c.(4711-4713)tCg>tTg	p.S1571L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1571	Fibrillar collagen NC1.				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)			AACCCTGAACGAGTCCCGCGC	0.612000													7	42					0	0	1	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266579	113266579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:113266579C>T	ENST00000369630.3	+	4	495	c.278C>T	c.(277-279)gCt>gTt	p.A93V	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTCTTGGCTGCCCACTGT	0.607000													5	61					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652319	34652319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34652319G>A	ENST00000314891.6	-	12	1412	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	412					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						TACCTCAAAGGCCAGACGAGT	0.577000													5	75					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024875	22024875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22024875C>T	ENST00000406385.1	+	3	163	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	PPIL2_ENST00000492445.2_Missense_Mutation_p.R35C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R35C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R35C|PPIL2_ENST00000412327.1_Missense_Mutation_p.R35C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R35C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	35					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAAATTTTCGTCGTTTACC	0.368000													6	114					0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100104391	100104391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100104391C>T	ENST00000372966.3	-	11	1526	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E404K|NOX1_ENST00000217885.5_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	441	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCACCTGTCTCCCTGCAGATC	0.438000													4	10					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28634950	28634950	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:28634950C>T	ENST00000264716.4	+	4	1479	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	FOSL2_ENST00000545753.1_Silent_p.L167L|FOSL2_ENST00000379619.1_Silent_p.L198L	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	206					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTGGGCTGCAGCCCAT	0.667000													26	55					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000													4	39					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235223	17235223	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:17235223G>A	ENST00000261381.6	-	7	1458	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	458					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTTCCGAATGAACCTGGGAG	0.577000													5	29					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26294330	26294330	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:26294330G>A	ENST00000335473.7	+	29	4975	c.4725G>A	c.(4723-4725)aaG>aaA	p.K1575K	CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000407587.2_Silent_p.K1576K|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000536101.1_Silent_p.K1575K|CTA-125H2.2_ENST00000597284.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1575	Tail.					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						ACCAACTGAAGAGGAAGTGCC	0.493000													6	60					0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134129563	134129563	+	Missense_Mutation	SNP	C	C	T	rs17849561		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:134129563C>T	ENST00000281182.4	+	6	735	c.629C>T	c.(628-630)cCa>cTa	p.P210L	ACAD8_ENST00000543332.1_Missense_Mutation_p.P112L|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.P133L|ACAD8_ENST00000374752.4_Missense_Mutation_p.P83L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	210				P -> L (in Ref. 4; AAH01964).	branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ACAGGAGGACCAGGCCCCAAG	0.547000													7	101					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29237342	29237342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29237342C>T	ENST00000379558.4	+	8	1310	c.959C>T	c.(958-960)cCc>cTc	p.P320L	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.P320L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	320							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTCTGCTCCCACGCTGACA	0.592000													5	15					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953567	43953567	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:43953567C>T	ENST00000282406.4	+	17	2808	c.2698C>T	c.(2698-2700)Cta>Tta	p.L900L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	900	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AACTTACCTCCTAATTGGATC	0.338000													69	148					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738354	110738354	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110738354T>G	ENST00000331565.4	+	10	2124	c.1639T>G	c.(1639-1641)Tat>Gat	p.Y547D		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	547					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCCTGGATTTATGGAACCAA	0.522000													3	44					0	0	1	0	0
DUSP21	63904	broad.mit.edu	37	X	44703567	44703567	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:44703567C>T	ENST00000339042.4	+	1	319	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	63	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						ACGTATTCTTCGAGGGCATTC	0.502000													8	58					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035947	36035947	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:36035947G>A	ENST00000282507.3	-	7	1526	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	UGT3A2_ENST00000513300.1_Silent_p.V441V|UGT3A2_ENST00000545528.1_Silent_p.V173V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	475						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTGCTGAAAGACATAGGGCT	0.617000													4	25					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498897	31498897	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31498897G>A	ENST00000330498.3	+	7	721	c.702G>A	c.(700-702)ctG>ctA	p.L234L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	234					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						ACAAATACCTGGGAGCAGCGA	0.647000													9	81					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7668894	7668894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:7668894G>A	ENST00000507866.2	+	8	1224	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SORCS2_ENST00000329016.9_Missense_Mutation_p.R200Q	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	372						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATCGTCGAAATGAATTT	0.493000													13	120					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025720	15025720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrY:15025720C>T	ENST00000336079.3	+	7	734	c.628C>T	c.(628-630)Cct>Tct	p.P210S	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.P210S	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	210	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ACATGCCATTCCTATTATTAA	0.378000													3	14					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94396969	94396969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94396969C>T	ENST00000260731.3	+	15	1994	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	635					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTCTAAGTTCACTGGAAATG	0.323000													39	277					0	0	1	0	0
NUGGC	389643	broad.mit.edu	37	8	27922053	27922053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27922053C>T	ENST00000413272.2	-	7	1049	c.907G>A	c.(907-909)Gag>Aag	p.E303K	NUGGC_ENST00000341513.6_Missense_Mutation_p.E303K	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		TTCCACATCTCGTCCCTCTTG	0.493000													4	35					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22891872	22891872	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22891872G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000535351.1_RNA|TRDV2_ENST00000390469.2_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000537850.1_RNA																							GAAGACCCAAGGTAACACAAT	0.458000													10	17					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115219992	115219992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:115219992C>T	ENST00000369538.3	-	9	1502	c.1455G>A	c.(1453-1455)atG>atA	p.M485I	AMPD1_ENST00000520113.2_Missense_Mutation_p.M489I|AMPD1_ENST00000353928.6_Missense_Mutation_p.M456I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	456					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	GAACCTGGATCATCCATGTCA	0.537000													5	57					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308779	79308779	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79308779C>G	ENST00000264895.6	+	29	4339	c.3899C>G	c.(3898-3900)tCc>tGc	p.S1300C	FRAS1_ENST00000325942.6_Missense_Mutation_p.S1300C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1299					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						GACAGCACATCCGATGTTGCA	0.488000													7	28					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44065740	44065740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44065740C>T	ENST00000260645.1	-	1	218	c.79G>A	c.(79-81)Ggg>Agg	p.G27R	ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	27					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGGAGCCCCCTCCAGGGAG	0.647000													16	262					0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18557151	18557151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18557151G>A	ENST00000262809.4	-	10	1743	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	558					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	p.R558W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GAGAGCTGCCGGAGCTGGGCG	0.677000			T	MLL	AL								8	12					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16256934	16256934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:16256934C>T	ENST00000205557.7	-	24	3451	c.3422G>A	c.(3421-3423)cGa>cAa	p.R1141Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1141	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGCCTGGGTTCGGAATGCCCG	0.597000													9	93					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31741063	31741063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:31741063G>A	ENST00000266269.5	-	1	1155	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	PATZ1_ENST00000215919.3_Missense_Mutation_p.R176C|PATZ1_ENST00000405309.3_Missense_Mutation_p.R176C|PATZ1_ENST00000351933.4_Missense_Mutation_p.R176C	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	176					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCAGGGGGGCGAAAGAGCATT	0.592000													10	117					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79579741	79579741	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:79579741G>A	ENST00000372391.2	-	16	3443	c.3438C>T	c.(3436-3438)tcC>tcT	p.S1146S	DLG5_ENST00000372388.2_Silent_p.S806S|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1146					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCTCCGGGGAGAGTTCTC	0.622000													4	89					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236767259	236767259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236767259G>A	ENST00000366582.3	-	2	251	c.137C>T	c.(136-138)gCc>gTc	p.A46V	HEATR1_ENST00000366579.1_Missense_Mutation_p.A46V|HEATR1_ENST00000366581.2_Missense_Mutation_p.A46V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	46					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCACCAATGGCGAAGGCGGT	0.443000													7	39					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33026293	33026293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33026293G>A	ENST00000374864.4	+	8	749	c.536G>A	c.(535-537)gGa>gAa	p.G179E	ITCH_ENST00000262650.6_Missense_Mutation_p.G220E|ITCH_ENST00000535650.1_Missense_Mutation_p.G69E	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	220					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCACAAATGGATCAGATGAC	0.423000													6	48					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344539	53344539	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53344539G>A	ENST00000595646.1	-	4	1128	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	ZNF468_ENST00000396409.4_Silent_p.F283F|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Silent_p.F283F|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AATTATATGCGAAAGCCTCAT	0.363000													6	30					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119837	38119837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38119837G>A	ENST00000406386.3	+	7	1529	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	425					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGCCACACGAGACAACCCC	0.577000													10	62					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501865	172501865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172501865G>A	ENST00000367723.3	+	1	377	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CTGGGAAAGAGAAAAACGAAT	0.507000													5	36					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024113	76024113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76024113C>T	ENST00000393004.2	-	5	1656	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E380K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E479K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	479										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATTCCAATTCTTTAACTCGA	0.373000													4	38					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270491	153270491	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153270491G>A	ENST00000290722.1	-	7	1019	c.967C>T	c.(967-969)Ctg>Ttg	p.L323L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	323					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGGGGACAGGATGTTGACC	0.597000													45	176					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183711	55183711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55183711C>T	ENST00000337714.3	+	2	1119	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	AKAP1_ENST00000314126.3_Nonsense_Mutation_p.Q296*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.Q296*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.Q296*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.Q296*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	296					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCCAAAGCCCAGGATAGAGG	0.547000													9	93					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41447273	41447273	+	RNA	SNP	G	G	A	rs34110144		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41447273G>A	ENST00000599198.1	+	0	772					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AAACCTACAGGAAATCAATGC	0.517000													5	100					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635639	200635639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200635639G>A	ENST00000447706.2	-	2	381	c.230C>T	c.(229-231)cCc>cTc	p.P77L	DDX59_ENST00000367348.3_Missense_Mutation_p.P77L|DDX59_ENST00000331314.6_Missense_Mutation_p.P77L			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	77			P -> T (in a breast cancer sample; somatic mutation).			intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACCCTGCTCGGGACTTACTGA	0.547000													13	69					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56719165	56719165	+	Missense_Mutation	SNP	C	C	T	rs149179511	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56719165C>T	ENST00000425394.2	-	9	1809	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	PAN2_ENST00000257931.5_Missense_Mutation_p.R478Q|PAN2_ENST00000440411.3_Missense_Mutation_p.R478Q|PAN2_ENST00000548043.1_Missense_Mutation_p.R478Q	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	478					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCCTCTTCTCGTCCTACTGG	0.507000													8	96					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1075533	1075533	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:1075533G>A	ENST00000264930.5	-	15	1963	c.1920C>T	c.(1918-1920)tcC>tcT	p.S640S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	640					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGGCGGACAGCGCGT	0.657000													4	43					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34145016	34145016	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34145016C>T	ENST00000348547.2	+	12	1145	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ERGIC3_ENST00000447986.1_Silent_p.F371F|ERGIC3_ENST00000357394.4_Silent_p.F361F|ERGIC3_ENST00000279052.6_Silent_p.F361F	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	356					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GGGGCATGTTCACAGGTAAGA	0.632000													11	122					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294928	42294928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42294928C>A	ENST00000342228.3	-	8	1471	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	SLC20A2_ENST00000520179.1_Nonsense_Mutation_p.E368*|SLC20A2_ENST00000520262.1_Nonsense_Mutation_p.E368*	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	368					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.E368*(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGCTTCTCCTCGGGGCCCCTG	0.597000													6	214					1	1	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36872569	36872569	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36872569C>T	ENST00000429976.2	-	21	8620	c.8373G>A	c.(8371-8373)caG>caA	p.Q2791Q	TRANK1_ENST00000428977.2_Silent_p.Q2241Q|TRANK1_ENST00000301807.6_Silent_p.Q2241Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2791					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGAGTATTTCTGGTAGGCCA	0.532000													21	143					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890033	139890033	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139890033G>A	ENST00000303045.6	-	3	1064	c.618C>T	c.(616-618)atC>atT	p.I206I	COL22A1_ENST00000435777.1_Silent_p.I206I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	206	VWFA.				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)			GGATCTTGTCGATGGCATTGA	0.662000										HNSCC(7;0.00092)			11	43					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169756	57169756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:57169756G>A	ENST00000371244.4	+	7	967	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	301					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAAAATTTGAATGTACAGA	0.373000													6	110					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21534491	21534491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21534491C>T	ENST00000313654.9	+	75	10122	c.9881C>T	c.(9880-9882)cCt>cTt	p.P3294L	LAMA3_ENST00000399516.3_Missense_Mutation_p.P3238L|LAMA3_ENST00000269217.6_Missense_Mutation_p.P1685L|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1629L|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3294	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGAGGATCCCTGTGTGGAAA	0.453000													7	29					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564203	58564203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58564203C>T	ENST00000348616.4	+	9	1568	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	CDH26_ENST00000244047.5_Missense_Mutation_p.P423L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	423	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P423Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCATGGATCCAGACAGCCAG	0.532000													28	263					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430675	43430675	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43430675C>T	ENST00000406070.2	-	0	999				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTCATTTCTCGTGACACTGG	0.502000													23	170					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807457	20807457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20807457G>A	ENST00000601440.1	-	4	1372	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAGGTTAGAGGAGTACTTAAA	0.398000													4	35					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108815	75108815	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75108815G>A	ENST00000309664.5	+	3	517	c.378G>A	c.(376-378)ggG>ggA	p.G126G	LMAN1L_ENST00000379709.3_Silent_p.G126G	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	126	L-type lectin-like.					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						CTGTCCTTGGGGGGCTGGCTT	0.667000													10	114					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794549	15794549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15794549C>T	ENST00000550308.1	+	7	1274	c.894C>T	c.(892-894)ttC>ttT	p.F298F	CYP4F12_ENST00000324632.9_Silent_p.F298F	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTTGGATTTCATTGATGTGC	0.438000													9	151					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418836	23418836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23418836G>A	ENST00000302291.4	-	4	2720	c.1919C>T	c.(1918-1920)cCg>cTg	p.P640L	LUZP1_ENST00000418342.1_Missense_Mutation_p.P640L|LUZP1_ENST00000314174.5_Missense_Mutation_p.P640L|LUZP1_ENST00000374623.3_Missense_Mutation_p.P640L			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GGCTTCATGCGGACTGCTGTC	0.463000													22	145					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924578	188924578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:188924578G>A	ENST00000326866.4	+	4	1025	c.617G>A	c.(616-618)aGa>aAa	p.R206K	ZFP42_ENST00000509524.1_Missense_Mutation_p.R206K	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	206					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCTGCCCTGAGAAAGCATCTC	0.478000													19	79					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132671209	132671209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:132671209C>T	ENST00000420781.1	-	12	1446	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	FNBP1_ENST00000446176.2_Missense_Mutation_p.D419N|FNBP1_ENST00000443566.2_Missense_Mutation_p.D47N|FNBP1_ENST00000355681.3_Missense_Mutation_p.D390N|FNBP1_ENST00000478129.1_5'UTR			Q96RU3	FNBP1_HUMAN	formin binding protein 1	419	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTTAACTCATCGACTTTCTGC	0.423000			T	MLL	AML								3	14					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100147	168100147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168100147G>A	ENST00000409195.1	+	9	2334	c.2245G>A	c.(2245-2247)Ggc>Agc	p.G749S	XIRP2_ENST00000295237.9_Missense_Mutation_p.G749S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	574					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						AGATGGTTCGGGCCAAATGCT	0.383000													3	22					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60743815	60743815	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:60743815G>A	ENST00000303375.5	+	4	1096		c.e4-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGTGGTGGCAGGTAACGACTG	0.632000													9	68					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2321186	2321186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2321186C>T	ENST00000381458.5	+	13	2104	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	681					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAACAAGTTCCCTGCAATCAA	0.592000													10	56					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93581431	93581431	+	Silent	SNP	G	G	A	rs11845925		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:93581431G>A	ENST00000267615.6	-	2	251	c.78C>T	c.(76-78)gcC>gcT	p.A26A	ITPK1_ENST00000556603.2_Silent_p.A26A|ITPK1_ENST00000354313.3_Silent_p.A26A|ITPK1_ENST00000555495.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	26					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCTCGGCGAAGGCCTGGAAAT	0.657000													5	23					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231738192	231738192	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231738192C>T	ENST00000326427.6	+	2	307	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ITM2C_ENST00000335005.6_Intron|ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000326407.6_Silent_p.L61L|ITM2C_ENST00000409704.2_5'UTR	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	61					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGTGTGCTACCTGTCGATGGG	0.632000													12	44					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882147	2882147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2882147C>T	ENST00000382280.3	+	4	693	c.614C>T	c.(613-615)cCc>cTc	p.P205L	ZG16B_ENST00000572863.1_Missense_Mutation_p.P175L	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	205						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						GCAAACTCACCCGTGGGTCGC	0.547000													7	57					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104200	109104200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:109104200C>T	ENST00000309863.6	+	17	4690	c.3976C>T	c.(3976-3978)Cga>Tga	p.R1326*		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1326					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CTACAAAGTCCGAGTTCATAA	0.358000													7	44					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190803	104190803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104190803G>A	ENST00000392876.3	-	6	662	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	208							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTGTTTCCATGAGAGCTCTGC	0.527000													11	36					0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306629	1306629	+	Silent	SNP	C	C	T	rs35609827		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1306629C>T	ENST00000211076.3	+	2	343	c.195C>T	c.(193-195)ttC>ttT	p.F65F	TPSD1_ENST00000397534.2_Silent_p.F58F	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	65	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGATGCACTTCTGCGGGGGCT	0.682000													16	94					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139756882	139756882	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139756882G>A	ENST00000263549.3	-	3	1407	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	178						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCAGATATGGAGCTTGATGC	0.433000													7	98					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49065687	49065687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49065687G>A	ENST00000550347.1	-	4	1196	c.1153C>T	c.(1153-1155)Cgt>Tgt	p.R385C	KANSL2_ENST00000553086.1_Missense_Mutation_p.R202C|KANSL2_ENST00000357861.3_Missense_Mutation_p.R7C|KANSL2_ENST00000420613.2_Missense_Mutation_p.R202C			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	202																	GACTGCAAACGAATTAGCTTT	0.403000													14	88					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10406151	10406151	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10406151C>T	ENST00000226207.5	-	24	3109	c.3015G>A	c.(3013-3015)gaG>gaA	p.E1005E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1005						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGGTGGGCCTCCTGGAGAG	0.488000													9	72					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33700389	33700389	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33700389C>T	ENST00000253188.3	-	10	1412	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	422					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					TGAGAAGGTTCACCTGGGGAA	0.607000													7	49					0	0	1	0	0
MIR409	574413	broad.mit.edu	37	14	101531703	101531703	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:101531703C>T	ENST00000362237.1	+	0	67					NR_029975.1																						CGGTGAACCCCTTTTCGGTAT	0.582000													7	70					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38260270	38260270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38260270C>T	ENST00000373045.6	+	1	797	c.416C>T	c.(415-417)gCc>gTc	p.A139V	MANEAL_ENST00000397631.3_Missense_Mutation_p.A139V	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	139						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AAGATCTCGGCCAGCTACCCC	0.692000													5	41					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024363	27024363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:27024363G>A	ENST00000354760.3	+	5	447	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	138	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGAAGGCAATGAAGTAGGGTC	0.562000													5	70					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208215514	208215514	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208215514G>A	ENST00000367033.3	-	22	4972	c.4215C>T	c.(4213-4215)ctC>ctT	p.L1405L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1405					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)		GCAGCTGCTTGAGGACATCAG	0.612000													6	53					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3746849	3746849	+	Missense_Mutation	SNP	G	G	A	rs144396449	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3746849G>A	ENST00000541714.2	+	18	2759	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	TJP3_ENST00000262968.9_Missense_Mutation_p.R799Q|TJP3_ENST00000587686.1_Missense_Mutation_p.R785Q|TJP3_ENST00000539908.2_Missense_Mutation_p.R730Q|TJP3_ENST00000382008.3_Missense_Mutation_p.R780Q|TJP3_ENST00000589378.1_Missense_Mutation_p.R775Q	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	780	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAGACGCGGCCCATCTGG	0.657000													3	16					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171515	34171515	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34171515C>T	ENST00000588240.1	+	15	1327	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	TAF15_ENST00000311979.3_Silent_p.G401G|TAF15_ENST00000592237.1_Silent_p.G313G	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	404	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GAGAGAGGGGCTACAGAGGTC	0.572000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								9	100					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372836	135372836	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135372836G>A	ENST00000368517.3	-	3	195	c.57C>T	c.(55-57)gtC>gtT	p.V19V	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.V19V|SYCE1_ENST00000343131.5_Silent_p.V55V	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	55					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTTAATCAGGACCTCAACTC	0.592000													9	42					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151284173	151284173	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:151284173C>T	ENST00000509345.2	-	0	238																											CTTTGGTGCTCCTCTAGGGCC	0.542000													6	12					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112235944	112235944	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112235944G>A	ENST00000261733.2	+	10	1207	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	ALDH2_ENST00000416293.3_Silent_p.A335A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	382					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AAGAGGGGGCGAAGCTGCTGT	0.547000			T	HMGA2	leiomyoma								5	38					0	0	1	0	0
SLC35E2	9906	broad.mit.edu	37	1	1670428	1670428	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1670428G>A	ENST00000355439.2	-	4	1151	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	SLC35E2_ENST00000246421.4_Nonsense_Mutation_p.Q131*|SLC35E2_ENST00000400924.1_Nonsense_Mutation_p.Q131*	NM_001199787.1	NP_001186716.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	131						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTTGTGCTGATATAAACAG	0.542000													8	89					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247554	50247554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50247554C>T	ENST00000246801.3	-	8	1377	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	TSKS_ENST00000358830.3_Missense_Mutation_p.R232Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	432							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCCTCTTCGAGAGTTCTG	0.612000													5	53					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442358	20442358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20442358G>A	ENST00000331849.4	+	9	1316	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	390					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATCAAGTCTGGATCCATGGGG	0.537000													11	134					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155460287	155460287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:155460287G>A	ENST00000499023.2	-	12	1247	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	PLRG1_ENST00000393905.2_Missense_Mutation_p.S374L|PLRG1_ENST00000302078.5_Missense_Mutation_p.S365L	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	374						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCCTAACTGATTTTTTGTG	0.353000													4	21					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036848	193036848	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:193036848G>A	ENST00000342358.4	-	17	2082	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	655					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAATGACACGGAAGCCTTGCA	0.483000													6	53					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966204	87966204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:87966204G>A	ENST00000327946.7	-	3	522	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	146						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGGCGGACGGGTGGTCTCGA	0.622000										Multiple Myeloma(13;0.14)			5	36					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32052303	32052303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32052303G>A	ENST00000375244.3	-	8	3533	c.3332C>T	c.(3331-3333)cCc>cTc	p.P1111L	TNXB_ENST00000375247.2_Missense_Mutation_p.P1111L			P22105	TENX_HUMAN	tenascin XB	1198	Fibronectin type-III 3.				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						CGAGCGCTGGGGTCCTTCCAC	0.612000													39	598					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503339	39503339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39503339C>T	ENST00000007735.3	-	4	768	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	242	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCTCCACTTCCCTGCGGTTG	0.627000													7	47					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121563788	121563788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:121563788C>T	ENST00000361976.2	+	10	1386	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	407	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACTTACGTTTCGTTTGACTTC	0.428000													6	55					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694972	42694972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42694972G>A	ENST00000398652.3	+	3	325	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398646.3_Missense_Mutation_p.G71R|FAM3B_ENST00000357985.2_Missense_Mutation_p.G48R			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	48					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCGCAGCATCGGGGAGAGGCC	0.607000													8	52					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631986	205631986	+	Silent	SNP	G	G	A	rs146644393	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205631986G>A	ENST00000367145.3	-	3	1228	c.933C>T	c.(931-933)acC>acT	p.T311T		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	311					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCGGGCCTCGGTGCCCGGCT	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								11	66					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121882	38121882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121882C>T	ENST00000406386.3	+	7	3574	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1107					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGAGCCCCTTCAGCTCCCTGC	0.642000													9	131					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5112727	5112727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:5112727G>A	ENST00000407184.1	+	8	876	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	RBAK_ENST00000498308.1_3'UTR|RBAK_ENST00000396904.2_3'UTR			Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	0	Required for interaction with RB1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CGGGGAACATGGGGCTTTCCC	0.657000													4	38					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505442	32505442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32505442G>A	ENST00000520502.2	+	1	206	c.206G>A	c.(205-207)gGt>gAt	p.G69D	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	280	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCTGAGAGGTTGCCTCAAC	0.597000													11	74					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267065	66267065	+	Silent	SNP	G	G	A	rs144195353		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66267065G>A	ENST00000327268.4	-	6	1400	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.V412V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	412						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CAATGCCCACGACATCATCCT	0.468000													8	48					0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61018652	61018652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61018652G>A	ENST00000312403.5	+	9	1251	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	PGA4_ENST00000422676.2_Missense_Mutation_p.E356K|PGA5_ENST00000541528.1_Missense_Mutation_p.E96K|PGA5_ENST00000451616.2_Missense_Mutation_p.E202K	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	356					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CGTCCCCACCGAATCTGGAGA	0.557000													15	175					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39703566	39703566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:39703566G>A	ENST00000395670.3	-	32	4521	c.4102C>T	c.(4102-4104)Cgt>Tgt	p.R1368C	KIF21A_ENST00000541463.2_Missense_Mutation_p.R1314C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1367C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R1330C|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1354C|KIF21A_ENST00000547745.1_5'UTR			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1367					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTACAAGTACGATCTAAAACA	0.323000													3	10					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38942419	38942419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38942419G>A	ENST00000357387.3	-	38	5144	c.5114C>T	c.(5113-5115)tCt>tTt	p.S1705F	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1729F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1705					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GGATTCAGCAGATGTATCAAC	0.348000													5	18					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3543884	3543884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3543884C>T	ENST00000262919.5	+	10	1728	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C	ATRN_ENST00000446916.2_Missense_Mutation_p.R554C	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	554					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGATTTTTCCGTTACTTGCA	0.378000													10	44					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1437313	1437313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1437313G>A	ENST00000345913.4	+	4	374	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	TPO_ENST00000382269.3_Missense_Mutation_p.E95K|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E95K|TPO_ENST00000539820.1_Missense_Mutation_p.E95K|TPO_ENST00000329066.4_Missense_Mutation_p.E95K|TPO_ENST00000382201.3_Missense_Mutation_p.E95K|TPO_ENST00000346956.3_Missense_Mutation_p.E95K|TPO_ENST00000337415.3_Missense_Mutation_p.E95K|TPO_ENST00000349624.3_Missense_Mutation_p.E95K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	95					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAGATAATGGAAACATCAAT	0.478000													5	27					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423558	88423558	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:88423558G>A	ENST00000394480.1	-	18	2556	c.2235C>T	c.(2233-2235)atC>atT	p.I745I	NTRK3_ENST00000357724.2_Silent_p.I751I|NTRK3_ENST00000355254.2_Silent_p.I745I|NTRK3_ENST00000360948.2_Silent_p.I759I|NTRK3_ENST00000557856.1_Silent_p.I737I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	759	Protein kinase.		R -> P (in a lung carcinoma sample; somatic mutation).		transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTCCCAGAGGATCACCCCGA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			7	60					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228523940	228523940	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228523940G>A	ENST00000570156.2	+	75	19451	c.19377G>A	c.(19375-19377)gcG>gcA	p.A6459A	OBSCN_ENST00000284548.11_Silent_p.A5502A|OBSCN_ENST00000366709.4_Silent_p.A2621A|OBSCN_ENST00000422127.1_Silent_p.A5502A|OBSCN_ENST00000366707.4_Silent_p.A3136A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5502					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)				TGGAAACTGCGAGTTTTGCTG	0.607000													11	81					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042439	90042439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:90042439C>T	ENST00000535571.1	+	2	758	c.449C>T	c.(448-450)cCa>cTa	p.P150L	CLDN12_ENST00000287916.4_Missense_Mutation_p.P150L|CLDN12_ENST00000394605.2_Missense_Mutation_p.P150L	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	150					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						AGCCTCTCCCCATCTATCTGG	0.478000													5	60					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525236	248525236	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248525236C>T	ENST00000366475.1	+	1	354	c.354C>T	c.(352-354)gtC>gtT	p.V118V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TGGACCAGGTCATGGGTGTGA	0.498000													6	61					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12234920	12234920	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:12234920C>T	ENST00000256194.4	+	7	1098	c.810C>T	c.(808-810)ttC>ttT	p.F270F	MICAL2_ENST00000527546.1_Silent_p.F270F|MICAL2_ENST00000379612.3_Silent_p.F270F|MICAL2_ENST00000537344.1_Silent_p.F270F|MICAL2_ENST00000342902.5_Silent_p.F270F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	270						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTTTCATCTTCAATCAGAAAT	0.468000													8	101					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663505	103663505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:103663505G>A	ENST00000395884.3	-	3	1924	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L	KLF10_ENST00000285407.6_Missense_Mutation_p.P352L	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	352					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGCTGCTGAAGGGGAAAACCC	0.517000													9	79					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31902172	31902172	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31902172C>T	ENST00000418949.2	+	6	995	c.945C>T	c.(943-945)caC>caT	p.H315H	CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Intron					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TCACAGCCCACCTCCTCCAAG	0.468000													6	43					0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53201524	53201524	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53201524C>T	ENST00000293774.4	-	7	1742	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	KRT4_ENST00000458244.2_Missense_Mutation_p.R397Q|KRT4_ENST00000551956.1_Missense_Mutation_p.R417Q			B4DRS2	B4DRS2_HUMAN	keratin 4	417						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						ACGCAGCATTCGTGCCAGCTC	0.597000													8	62					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195330	3195330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3195330C>T	ENST00000323404.1	-	1	546	c.547G>A	c.(547-549)Gac>Aac	p.D183N	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGTGGGAGGTCACAGTAGAAG	0.542000													7	103					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34298119	34298119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:34298119C>T	ENST00000257209.4	+	16	2455	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	FHOD3_ENST00000590592.1_Missense_Mutation_p.S953F|FHOD3_ENST00000359247.4_Missense_Mutation_p.S761F|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.S740F	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	761					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGAGAGGTTCCATCTCCCCT	0.547000													12	91					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720293	140720293	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140720293C>T	ENST00000394576.2	+	1	1755	c.1755C>T	c.(1753-1755)ggC>ggT	p.G585G	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCCCGGCTACCTGGTGA	0.667000													8	99					0	0	1	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573396	27573396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:27573396G>A	ENST00000544915.1	+	16	1959	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ARNTL2_ENST00000261178.5_Missense_Mutation_p.M566I|ARNTL2_ENST00000266503.5_Missense_Mutation_p.M614I|ARNTL2_ENST00000395901.2_Missense_Mutation_p.M577I|ARNTL2_ENST00000546179.1_Silent_p.*541*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000542388.1_Missense_Mutation_p.M529I|ARNTL2_ENST00000311001.5_Missense_Mutation_p.M600I	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	614					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGCATTTATGAATTACTTAG	0.448000													5	72					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203668766	203668766	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203668766C>T	ENST00000357681.5	+	4	1693	c.570C>T	c.(568-570)ttC>ttT	p.F190F	ATP2B4_ENST00000367218.3_Silent_p.F190F|ATP2B4_ENST00000367219.3_Silent_p.F190F|ATP2B4_ENST00000341360.2_Silent_p.F190F|ATP2B4_ENST00000391954.2_Silent_p.F190F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	190					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAAAAGTTCTCCATCATCC	0.488000													18	127					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472286	25472286	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25472286G>A	ENST00000453082.2	+	0	1238				SNORD115-31_ENST00000365318.1_RNA	NR_003343.1																						ATATTGTCCTGAAGAAAGGTG	0.507000													8	171					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36485362	36485362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36485362C>T	ENST00000342292.4	-	11	4110	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1364						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGCAGCTTCCCACCCAGGC	0.612000													5	79					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70342949	70342949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70342949C>T	ENST00000333646.6	+	11	1689	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	MED12_ENST00000374080.3_Missense_Mutation_p.S497F|MED12_ENST00000374102.1_Missense_Mutation_p.S497F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	497					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTCCAGATCTCCTCAGATGAT	0.488000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						23	70					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47604163	47604163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47604163G>A	ENST00000383738.2	-	5	3726	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	CSPG5_ENST00000456150.1_Missense_Mutation_p.S378L|CSPG5_ENST00000264723.4_Missense_Mutation_p.S516L	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	543					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGTTTGGGCGACATGGAGTT	0.493000													9	124					0	0	1	0	0
ASB17	127247	broad.mit.edu	37	1	76387881	76387881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:76387881G>A	ENST00000284142.6	-	2	704	c.565C>T	c.(565-567)Cct>Tct	p.P189S		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	189					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ACTCTCGAAGGGTAGAGTACT	0.363000													6	43					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74803645	74803645	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74803645G>A	ENST00000290536.5	-	6	986	c.870C>T	c.(868-870)ttC>ttT	p.F290F	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Silent_p.F290F|M1AP_ENST00000358434.2_Silent_p.F8F|M1AP_ENST00000536235.1_Silent_p.F290F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		AGAGTGTGATGAAGTCTCCTT	0.517000													8	16					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57324215	57324215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57324215C>T	ENST00000293502.1	-	2	498	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	119						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTCAGCCATTCGTTGGGACCA	0.557000													8	30					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5445203	5445203	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5445203C>T	ENST00000345221.3	-	6	3227	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	NLRP1_ENST00000262467.5_Silent_p.Q891Q|NLRP1_ENST00000269280.4_Silent_p.Q891Q|NLRP1_ENST00000577119.1_Silent_p.Q891Q|NLRP1_ENST00000572272.1_Silent_p.Q891Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.Q891Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	891					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGCAGCTCGGCTGTCTCAGTC	0.587000													9	38					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16608950	16608950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16608950G>A	ENST00000443824.1	-	18	2470	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	CTPS2_ENST00000380241.3_Missense_Mutation_p.S576L|CTPS2_ENST00000359276.4_Missense_Mutation_p.S576L|CTPS2_ENST00000483053.1_5'UTR	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	576					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					CCTTGGCTCTGAAAAGCTGTC	0.378000													5	54					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95918458	95918458	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:95918458G>A	ENST00000258499.3	-	4	2019	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	USP44_ENST00000393091.2_Silent_p.F577F|USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Silent_p.F577F	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	577					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTACAGACCTGAATCGTTTGA	0.388000													5	55					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49688996	49688996	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49688996C>T	ENST00000296452.4	+	5	2121	c.2007C>T	c.(2005-2007)taC>taT	p.Y669Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	669					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAAGCCTTACTCTCAGGATG	0.582000													6	63					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420748	55420748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55420748G>A	ENST00000594765.1	+	4	525	c.500G>A	c.(499-501)gGa>gAa	p.G167E	NCR1_ENST00000357397.5_Missense_Mutation_p.G60E|NCR1_ENST00000350790.5_Missense_Mutation_p.G72E|NCR1_ENST00000291890.4_Missense_Mutation_p.G167E|NCR1_ENST00000598576.1_Missense_Mutation_p.G155E|NCR1_ENST00000338835.5_Missense_Mutation_p.G167E|NCR1_ENST00000447255.1_Missense_Mutation_p.G167E			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	167	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GTACAGCGCGGATACGGGAAG	0.567000													7	79					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44152287	44152287	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44152287G>A	ENST00000260665.7	-	27	2872	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	939					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATTTTTCCAGAGTTTCAACC	0.318000													16	248					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234851302	234851302	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234851302G>A	ENST00000324695.4	+	6	649	c.609G>A	c.(607-609)agG>agA	p.R203R	TRPM8_ENST00000409625.1_Silent_p.R126R|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Silent_p.R153R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	203						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCATCAGCAGGAGTTCAGAGG	0.532000													7	115					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626639	142626639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142626639G>A	ENST00000265310.1	-	4	719	c.371C>T	c.(370-372)gCt>gTt	p.A124V	TRPV5_ENST00000442623.1_Missense_Mutation_p.A124V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	124					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTCACAACAGCGATGTGCAG	0.627000													4	73					0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39047471	39047471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39047471C>T	ENST00000373256.4	+	11	1218	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	392					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCCTTCACCTCCTTCCAGGTG	0.552000													5	59					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333102	55333102	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55333102C>T	ENST00000391728.4	+	5	771	c.738C>T	c.(736-738)tcC>tcT	p.S246S	KIR3DL1_ENST00000326542.7_Silent_p.S246S|KIR3DL1_ENST00000402254.2_Silent_p.S246S|KIR3DL1_ENST00000541392.1_Silent_p.S246S|KIR3DL1_ENST00000538269.1_Silent_p.S246S|KIR3DL1_ENST00000358178.4_Silent_p.S151S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTGTAGCTCCCGGAGCTCCT	0.572000													7	57					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907745	12907745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12907745G>A	ENST00000317869.6	-	2	623	c.398C>T	c.(397-399)cCt>cTt	p.P133L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AATGGGAGGAGGAGGAGGTAC	0.493000													9	77					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221700	32221700	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32221700G>A	ENST00000373658.3	-	4	1079	c.738C>T	c.(736-738)acC>acT	p.T246T	BAI2_ENST00000373655.2_Silent_p.T246T|BAI2_ENST00000398556.3_Silent_p.T249T|BAI2_ENST00000527361.1_Silent_p.T246T|BAI2_ENST00000398538.1_Silent_p.T234T|BAI2_ENST00000398542.1_Silent_p.T234T|BAI2_ENST00000398547.1_Silent_p.T234T|BAI2_ENST00000257070.4_Silent_p.T246T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	246					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CATTGGACAGGGTGTGGGCAG	0.667000													11	120					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390428	208390428	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:208390428G>A	ENST00000367033.3	-	2	1597	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	280	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)		AGAGCCGCACGATGCGTGAGG	0.612000													27	63					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912891	94912891	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94912891A>T	ENST00000334708.3	-	3	758	c.694T>A	c.(694-696)Ttc>Atc	p.F232I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	232					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TCCACAAAGAAACTTTCCTGC	0.488000													6	52					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41739884	41739884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:41739884C>T	ENST00000242208.4	-	2	335	c.89G>A	c.(88-90)aGc>aAc	p.S30N	AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S30N|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	30					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGGCCGCGCTGTGCCCCTC	0.587000										TSP Lung(11;0.080)			25	317					0	0	1	0	0
TRAV8-1	28685	broad.mit.edu	37	14	22265852	22265852	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22265852C>T	ENST00000390430.2	+	0	267																											GCAACTATTCCTATGGTGGAA	0.478000													4	58					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120642	115120642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:115120642C>T	ENST00000349155.2	-	1	1327	c.364G>A	c.(364-366)Gag>Aag	p.E122K	TBX3_ENST00000257566.3_Missense_Mutation_p.E122K	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	122					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGACCATCTCGGTGCCCCGC	0.542000													8	82					0	0	1	0	0
CABP2	51475	broad.mit.edu	37	11	67287310	67287310	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67287310G>A	ENST00000294288.4	-	6	660	c.591C>T	c.(589-591)atC>atT	p.I197I	CABP2_ENST00000353903.5_Silent_p.I140I	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	197	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CGTCCTGGAGGATCTCGTCCA	0.662000													9	47					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134646861	134646861	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134646861C>T	ENST00000368586.5	-	50	7218		c.e50+1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40											breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCAGTTCCTACCTGTCTCTTC	0.373000													5	59					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811672	42811672	+	Missense_Mutation	SNP	C	C	T	rs143467494	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42811672C>T	ENST00000398600.2	+	10	1513	c.488C>T	c.(487-489)aCc>aTc	p.T163I	MX1_ENST00000455164.2_Missense_Mutation_p.T163I|MX1_ENST00000288383.6_Missense_Mutation_p.T140I|MX1_ENST00000398598.3_Missense_Mutation_p.T163I	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	163					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAGCTAATCACCCTGGAGATC	0.502000													5	87					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922427	17922427	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17922427C>T	ENST00000318683.6	+	3	762	c.615C>T	c.(613-615)ttC>ttT	p.F205F	B3GNT3_ENST00000595387.1_Silent_p.F205F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	205					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.F205F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACGCCAGCTTCGTGCTCAACG	0.582000													12	34					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033116	20033116	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:20033116G>A	ENST00000377340.2	-	2	385	c.354C>T	c.(352-354)gtC>gtT	p.V118V	CRNKL1_ENST00000377327.4_Silent_p.V106V	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	118					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GAACTTGCAGGACTGACCTTT	0.607000													12	60					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299543	39299543	+	Silent	SNP	G	G	A	rs145088175	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39299543G>A	ENST00000307751.4	-	3	657	c.180C>T	c.(178-180)gtC>gtT	p.V60V	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	60	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGTGGAAGGCGACGTCTGAGC	0.632000													7	20					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139661795	139661795	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139661795C>T	ENST00000263552.6	+	13	1438	c.900C>T	c.(898-900)atC>atT	p.I300I	TBXAS1_ENST00000336425.5_Silent_p.I299I|TBXAS1_ENST00000425687.1_Silent_p.I232I|TBXAS1_ENST00000448866.1_Silent_p.I299I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Silent_p.I346I|TBXAS1_ENST00000411653.1_Silent_p.I299I|TBXAS1_ENST00000458722.1_Silent_p.I345I|TBXAS1_ENST00000414508.2_Silent_p.I300I|TBXAS1_ENST00000436047.2_Silent_p.I300I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	299					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACTTTGACATCGTCAGAGACG	0.537000													4	30					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52980754	52980754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52980754C>T	ENST00000293745.2	-	8	1406	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	KRT72_ENST00000398066.3_Missense_Mutation_p.E253K|KRT72_ENST00000537672.2_Missense_Mutation_p.E441K|KRT72_ENST00000354310.4_Missense_Mutation_p.E399K	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	441	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTTGGATATTCGCCAGACATC	0.453000													8	34					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102030466	102030466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102030466G>A	ENST00000549145.1	+	9	689	c.589G>A	c.(589-591)Gat>Aat	p.D197N	MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D209N|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D184N|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D184N|MYBPC1_ENST00000441232.1_Missense_Mutation_p.D184N|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D171N|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D158N|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D184N|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D209N|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D85N|MYBPC1_ENST00000550270.1_Missense_Mutation_p.D184N|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D184N|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D170N|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D172N			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	184					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTCAAGAGGATGCAGGAGA	0.438000													3	20					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	605145	605145	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:605145C>T	ENST00000264555.5	+	11	1307	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	PHRF1_ENST00000416188.2_Silent_p.I393I|PHRF1_ENST00000413872.2_Silent_p.I392I|PHRF1_ENST00000533464.1_Silent_p.I389I	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	393	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTCTCGAATCGCGCGGACGC	0.567000													5	26					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57176859	57176859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:57176859C>T	ENST00000504228.1	+	4	418	c.313C>T	c.(313-315)Cct>Tct	p.P105S	KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000541073.1_Missense_Mutation_p.P98S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P105S			Q6ZU35	K1211_HUMAN	KIAA1211	105										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCTCTAAGTCCTCTGAATCT	0.428000													7	46					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19740809	19740809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19740809G>A	ENST00000203556.4	-	21	3013	c.2876C>T	c.(2875-2877)cCg>cTg	p.P959L	GMIP_ENST00000445806.2_Missense_Mutation_p.P930L|GMIP_ENST00000587238.1_Missense_Mutation_p.P933L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	959					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGACGTCCGGGCAGCAGGT	0.597000													4	16					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429124	2429124	+	Missense_Mutation	SNP	G	G	A	rs78068524		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2429124G>A	ENST00000452833.1	-	19	2815	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.S934F|TRPM5_ENST00000533060.1_Missense_Mutation_p.S934F|TRPM5_ENST00000155858.6_Missense_Mutation_p.S934F			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	934						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGTGGGTGGAGCAGTTCAC	0.617000													55	298					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29253878	29253878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:29253878G>A	ENST00000330889.3	+	3	594	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	ADAP2_ENST00000580525.1_Missense_Mutation_p.A93T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	87	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCGTGTGAAGGCCAAGTTCGA	0.493000													5	31					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156873738	156873738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156873738C>T	ENST00000338302.3	+	3	245	c.20C>T	c.(19-21)cCc>cTc	p.P7L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P7L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	7						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTCTGTGTCCCCTCCTTCTC	0.642000													21	137					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3779715	3779715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3779715G>A	ENST00000262367.5	-	31	6142	c.5333C>T	c.(5332-5334)tCg>tTg	p.S1778L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1740L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1778	Interaction with TRERF1.				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)		GTGCACCAGCGACTGGATGCA	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	36					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65342188	65342188	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:65342188C>T	ENST00000402939.2	-	23	4253	c.4254G>A	c.(4252-4254)agG>agA	p.R1418R	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1447					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTCTCTGTTCCTTTTGTCCA	0.657000													8	124					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545607	234545607	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234545607C>T	ENST00000344644.5	+	1	508	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.L147L	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGCAGTGTTTCTGGATCCTTT	0.388000													9	55					0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20870930	20870930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:20870930G>A	ENST00000272224.3	+	2	1674	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	366					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGACGACTGGATCATCGCGC	0.692000													8	27					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154995717	154995717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154995717C>T	ENST00000368424.3	-	14	2039	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	661						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGGCCCTCCTCATCGCTG	0.592000													5	35					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55956990	55956990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55956990G>A	ENST00000577830.1	-	3	859	c.446C>T	c.(445-447)cCc>cTc	p.P149L	CUEDC1_ENST00000577840.1_Missense_Mutation_p.P12L|CUEDC1_ENST00000407144.2_Missense_Mutation_p.P149L|CUEDC1_ENST00000360238.2_Missense_Mutation_p.P149L	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	149	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CGGAGTCGGGGGAGCCAGAGG	0.597000													19	86					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212532	100212532	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100212532T>A	ENST00000393950.2	+	4	836	c.554T>A	c.(553-555)tTg>tAg	p.L185*	MOSPD3_ENST00000424091.2_Nonsense_Mutation_p.L175*|MOSPD3_ENST00000379527.2_Nonsense_Mutation_p.L185*|MOSPD3_ENST00000223054.4_Nonsense_Mutation_p.L185*	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	185						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTCCTCTTCTTGCTGACGGGG	0.622000													26	73					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048589	9048589	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9048589C>T	ENST00000397910.4	-	5	33245	c.33042G>A	c.(33040-33042)gaG>gaA	p.E11014E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11016	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTGTGGTCTCTGGTTCAC	0.517000													4	36					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205814603	205814603	+	Silent	SNP	C	C	T	rs138877289		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205814603C>T	ENST00000367136.4	-	3	383	c.339G>A	c.(337-339)tcG>tcA	p.S113S	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	113						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCTGGGGTCCGAGCCTTGGA	0.552000													7	85					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:25570308C>T	ENST00000269141.3	-	10	1774	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_ENST00000399380.3_Missense_Mutation_p.D420N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	451	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393000													5	28					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6258674	6258674	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:6258674C>T	ENST00000379775.4	+	5	702	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PFKFB3_ENST00000536985.1_Silent_p.F104F|PFKFB3_ENST00000540253.1_Silent_p.F138F|PFKFB3_ENST00000379789.4_Silent_p.F104F|PFKFB3_ENST00000379785.1_Silent_p.F124F|PFKFB3_ENST00000360521.2_Silent_p.F124F|PFKFB3_ENST00000317350.4_Silent_p.F124F|PFKFB3_ENST00000379782.3_Silent_p.F124F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	124	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ATCAGGTTTTCGATGCCACCA	0.438000													43	169					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166092	118166092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118166092C>T	ENST00000369448.3	+	2	849	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	201										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TCCAATAATCCCATCTCTGAG	0.478000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			9	119					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242689687	242689687	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242689687C>T	ENST00000321264.4	+	7	1184	c.975C>T	c.(973-975)ctC>ctT	p.L325L	D2HGDH_ENST00000403782.1_Silent_p.L191L|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	325					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGCGCCATCTCCACCTGGCCA	0.617000													13	107					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352428	38352428	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38352428C>T	ENST00000322350.5	+	5	886	c.540C>T	c.(538-540)ttC>ttT	p.F180F	EGFLAM_ENST00000354891.3_Silent_p.F180F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	180	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTGGAATTCATCAGGTAAG	0.522000													6	89					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095588	179095588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179095588G>A	ENST00000502732.1	-	4	814	c.611C>T	c.(610-612)cCt>cTt	p.P204L	ABL2_ENST00000507173.1_Missense_Mutation_p.P183L|ABL2_ENST00000512653.1_Missense_Mutation_p.P189L|ABL2_ENST00000392043.3_Missense_Mutation_p.P183L|ABL2_ENST00000408940.3_Missense_Mutation_p.P168L|ABL2_ENST00000504405.1_Missense_Mutation_p.P168L|ABL2_ENST00000511413.1_Missense_Mutation_p.P204L|ABL2_ENST00000344730.3_Missense_Mutation_p.P189L|ABL2_ENST00000367623.4_Missense_Mutation_p.P183L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	204	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CAGCTGCCCAGGGCTACTCTC	0.542000			T	ETV6	AML								10	56					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97547928	97547928	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:97547928G>A	ENST00000370192.3	-	22	2965	c.2865C>T	c.(2863-2865)aaC>aaT	p.N955N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	955	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.N955K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATTTACCACAGTTGATACACA	0.398000													8	39					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523344	9523344	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:9523344G>A	ENST00000378429.3	-	10	2439	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	PAK7_ENST00000378423.1_Silent_p.I631I|PAK7_ENST00000353224.5_Silent_p.I631I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	631	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTATCACCATGATCCCGAGGG	0.522000													6	42					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17507461	17507461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:17507461G>A	ENST00000229922.2	+	5	894	c.362G>A	c.(361-363)aGa>aAa	p.R121K	CAP2_ENST00000378990.2_Missense_Mutation_p.R95K|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.R121K|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	121					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CAAACTTTCAGAGAGAGAAAC	0.483000													4	38					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123458800	123458800	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123458800C>T	ENST00000360772.3	-	7	800	c.422_splice	c.e7+1	p.G141_splice	MYLK_ENST00000359169.1_Splice_Site_p.G141_splice|MYLK_ENST00000360304.3_Splice_Site_p.G141_splice|MYLK_ENST00000346322.5_Splice_Site_p.G141_splice|MYLK_ENST00000475616.1_Splice_Site_p.G141_splice			Q15746	MYLK_HUMAN	myosin light chain kinase	141					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGACTTACCCTAAGGTTTT	0.473000													21	149					0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45038639	45038639	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:45038639C>T	ENST00000265564.7	+	4	363	c.315C>T	c.(313-315)atC>atT	p.I105I	EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	105					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCACCGAGATCGCTAACACCC	0.458000													5	106					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178722	112178722	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:112178722C>T	ENST00000457016.1	+	16	7811	c.7431C>T	c.(7429-7431)tcC>tcT	p.S2477S	APC_ENST00000257430.4_Silent_p.S2477S|APC_ENST00000508376.2_Silent_p.S2477S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2477	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACTAGGTCCCAGGCACAAA	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			5	20					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899067	233899067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233899067G>A	ENST00000233840.3	+	2	443	c.443G>A	c.(442-444)gGc>gAc	p.G148D		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	148							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCGGCCATCGGCCCAGCCTAC	0.667000													4	29					0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100692631	100692631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:100692631G>A	ENST00000259456.3	-	4	1189	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	349					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATAGTCTTCAGAATGAGGTGT	0.363000													11	123					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141441975	141441975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141441975C>T	ENST00000481508.1	+	3	466	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	SSBP1_ENST00000498107.1_Missense_Mutation_p.R11C|SSBP1_ENST00000465582.1_Missense_Mutation_p.R11C|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.R11C|SSBP1_ENST00000265304.6_Missense_Mutation_p.R11C	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	11					DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TTAGGTACTTCGTCAGTTTGT	0.318000													6	30					0	0	1	0	0
IGLV1-40	28825	broad.mit.edu	37	22	22764309	22764309	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22764309C>T	ENST00000390299.2	+	0	102																											TTCCAGGGTCCTGGGCCCAGT	0.617000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	160					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044217	53044217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53044217G>A	ENST00000309680.3	-	2	727	c.706C>T	c.(706-708)Ctc>Ttc	p.L236F		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	236	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TATCTCTTGAGGCTGTCGATA	0.473000													8	135					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90773985	90773985	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90773985C>T	ENST00000355740.2	+	9	1006	c.786C>T	c.(784-786)atC>atT	p.I262I	FAS_ENST00000357339.2_Silent_p.I241I|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000355279.2_3'UTR	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	262	Death.|Interaction with HIPK3 (By similarity).		I -> S (in ALPS1A).		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)		TAGATGAGATCAAGAATGACA	0.373000													6	35					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229818	21229818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21229818G>A	ENST00000233242.1	-	26	10049	c.9922C>T	c.(9922-9924)Cat>Tat	p.H3308Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3308					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTAGGGACATGAAGGACTGGC	0.428000													13	233					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10108068	10108068	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10108068G>A	ENST00000264828.3	-	11	1327	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	414	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)			GGTCGCCAGGGAATCCTGGGG	0.592000													4	42					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155220458	155220458	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155220458G>A	ENST00000361361.2	-	9	1628	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	FAM189B_ENST00000368368.3_Silent_p.G355G|FAM189B_ENST00000350210.2_Silent_p.G277G	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	373						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAGGCAGTAGCCGGCACGGC	0.701000													4	43					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808425	8808425	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8808425G>A	ENST00000324436.3	-	1	747	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	209						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGTAGCCCTGGAAGACGGGCA	0.682000													5	30					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34049413	34049413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34049413C>T	ENST00000373381.4	-	47	7245	c.7069G>A	c.(7069-7071)Gag>Aag	p.E2357K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2359	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCAGAAGCTCATTTGTTGGA	0.512000													11	57					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221654	18221654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:18221654C>T	ENST00000380033.4	-	5	1006	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	BEND2_ENST00000380030.3_Missense_Mutation_p.A292T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GATGACAAGGCTCTACCTGGG	0.418000													16	26					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936279	4936279	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4936279C>T	ENST00000424747.1	-	5	2032	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	SLC52A1_ENST00000512825.2_3'UTR|SLC52A1_ENST00000254853.5_Silent_p.K440K	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	440						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.K440N(1)									CTACACAGTCCTTTCTGCTTT	0.607000													4	35					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130219603	130219603	+	Silent	SNP	C	C	T	rs113869335		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130219603C>T	ENST00000323301.4	+	5	787	c.183C>T	c.(181-183)atC>atT	p.I61I	LRSAM1_ENST00000373324.4_Silent_p.I61I|LRSAM1_ENST00000373322.1_Silent_p.I61I|LRSAM1_ENST00000300417.6_Silent_p.I61I	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	61					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGTGCTGATCGTCCACACGA	0.642000													5	34					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200090064	200090064	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200090064C>T	ENST00000367362.3	+	7	1605	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NR5A2_ENST00000544748.1_Silent_p.F381F|NR5A2_ENST00000236914.3_Silent_p.F407F	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	453					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTCTGAAATTCTTGGTGCTCT	0.423000													11	50					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151235888	151235888	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151235888T>C	ENST00000274576.4	-	5	825	c.533A>G	c.(532-534)cAg>cGg	p.Q178R	GLRA1_ENST00000545569.1_Missense_Mutation_p.Q95R|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.Q178R	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	178					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATACATGTCTGGACATCCAT	0.478000													6	42					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	5997222	5997222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5997222G>A	ENST00000303657.5	-	16	2011	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.S596F|RFX2_ENST00000359161.3_Missense_Mutation_p.S621F	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATCACCATGGAGCTGGGGAC	0.642000													5	18					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148747	125148747	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125148747C>T	ENST00000362012.2	+	9	1037	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PTGS1_ENST00000223423.4_Silent_p.I344I|AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000540753.1_Silent_p.I319I|PTGS1_ENST00000373698.5_Silent_p.I235I	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	344					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AGATTGTCATCGAGGAGTACG	0.532000													6	93					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249080	124249080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124249080G>A	ENST00000368984.3	+	3	843	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	239	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGCCACTTACGAAGCCAAAAT	0.493000													6	47					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44067273	44067273	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:44067273G>A	ENST00000344290.5	+	8	1534	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.L404L|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000571987.1_Silent_p.L404L|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000262410.5_Silent_p.L404L|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000446361.3_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	404					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTAAAACCTTGAAAAATAGGC	0.463000													34	190					0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156480761	156480761	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:156480761G>A	ENST00000353442.4	-	16	1586	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	LMBR1_ENST00000359422.4_Intron|LMBR1_ENST00000354505.4_Silent_p.F491F|LMBR1_ENST00000540390.1_Intron	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	450						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CTGCAGAGGTGAATTTTCGGA	0.358000													6	27					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279990	32279990	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32279990G>A	ENST00000360482.2	-	2	1074	c.945C>T	c.(943-945)ctC>ctT	p.L315L	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Silent_p.L315L|SPOCD1_ENST00000533231.1_Silent_p.L315L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	315					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGAACTGAGGGACTCCC	0.637000													5	27					0	0	1	0	0
MED20	9477	broad.mit.edu	37	6	41877043	41877043	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41877043G>A	ENST00000265350.4	-	3	467	c.387C>T	c.(385-387)gtC>gtT	p.V129V	MED20_ENST00000409312.1_Intron|MED20_ENST00000467535.1_5'UTR|MED20_ENST00000409060.1_Silent_p.V129V	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	129					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCCATTGTGACCGTGCCCA	0.562000													13	88					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407010	105407010	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:105407010C>A	ENST00000333244.5	-	7	14897	c.14778G>T	c.(14776-14778)gtG>gtT	p.V4926V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4926						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)			GCAAGGAGGCCACAAGCTCTT	0.567000													10	48					0.0581538	0.0585968	1	1	0
HCRTR1	3061	broad.mit.edu	37	1	32084964	32084964	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32084964C>T	ENST00000403528.2	+	3	556	c.171C>T	c.(169-171)ttC>ttT	p.F57F	HCRTR1_ENST00000373706.5_Silent_p.F57F|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.F57F	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	57					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGGCTGTGTTCGTCGTGGCCC	0.587000													11	126					0	0	1	0	0
TMEM110	375346	broad.mit.edu	37	3	52876860	52876860	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52876860C>T	ENST00000355083.5	-	7	880	c.735G>A	c.(733-735)cgG>cgA	p.R245R	TMEM110-MUSTN1_ENST00000504329.1_Silent_p.R245R|TMEM110_ENST00000464769.1_5'UTR	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATGCGGCCCTCCGGTAGCGGA	0.587000													5	43					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314231	176314231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176314231C>T	ENST00000292432.5	-	12	1799	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	570	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCACAGTCTCGGGAATGGAG	0.617000													5	39					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55058509	55058509	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:55058509A>T	ENST00000262288.3	+	2	198	c.143A>T	c.(142-144)gAt>gTt	p.D48V	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	48					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCCGCAAGGATGCCTACATG	0.502000													5	34					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220350093	220350093	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220350093C>T	ENST00000312358.7	+	31	7767	c.7635C>T	c.(7633-7635)ctC>ctT	p.L2545L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2545					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAAGCCGGCTCCGCTGGGGCT	0.622000													17	110					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717956	45717956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45717956G>A	ENST00000327619.5	+	8	1114	c.740G>A	c.(739-741)gGg>gAg	p.G247E	EYA2_ENST00000317304.6_Missense_Mutation_p.G247E|EYA2_ENST00000357410.3_Missense_Mutation_p.G247E	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	247					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)				GCCTCCGACGGGAAGCTCCGA	0.577000													9	74					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14939527	14939527	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:14939527C>T	ENST00000285046.5	+	6	3101	c.2991C>T	c.(2989-2991)ttC>ttT	p.F997F	FGD5_ENST00000543601.1_Silent_p.F756F|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	997	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.F997F(1)|p.F756F(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGCAGTTCGACAGGTACC	0.602000													9	98					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242082329	242082329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242082329G>A	ENST00000403638.3	-	2	210	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PASK_ENST00000539818.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.S40L|PASK_ENST00000358649.4_Missense_Mutation_p.S40L|PASK_ENST00000234040.4_Missense_Mutation_p.S40L|PASK_ENST00000544142.1_5'UTR	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	40					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGAGGAAAACGACCTGCTGGG	0.587000													10	44					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521269	36521269	+	Missense_Mutation	SNP	C	C	T	rs145376452		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36521269C>T	ENST00000577233.1	+	4	1037	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	SOCS7_ENST00000331159.5_Intron	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	346	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCCTACCTCCGCCTCCTCCA	0.498000													9	50					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468145	74468145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74468145G>A	ENST00000249842.3	+	2	1303	c.946G>A	c.(946-948)Gac>Aac	p.D316N	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.D316N	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	316	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCTTATCCCCGACTTTGGCAA	0.662000													6	62					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599417	50599417	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50599417G>A	ENST00000262794.5	+	26	3570	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	MOV10L1_ENST00000395852.1_Missense_Mutation_p.E290K|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1117K|MOV10L1_ENST00000540615.1_Intron|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1163K	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1163					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGCTTTGCTGGAATACAGTAT	0.502000													9	196					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667118	157667118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157667118C>T	ENST00000368184.3	-	6	947	c.656G>A	c.(655-657)aGg>aAg	p.R219K	FCRL3_ENST00000368186.5_Missense_Mutation_p.R219K|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	219	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACATCTGGCCTCTGTGGAGA	0.577000													5	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179642625	179642625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179642625G>A	ENST00000589042.1	-	25	4510	c.4286C>T	c.(4285-4287)cCt>cTt	p.P1429L	TTN_ENST00000591111.1_Missense_Mutation_p.P1429L|TTN_ENST00000359218.5_Missense_Mutation_p.P1383L|TTN_ENST00000360870.5_Missense_Mutation_p.P1429L|TTN_ENST00000342992.6_Missense_Mutation_p.P1429L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P1383L|TTN_ENST00000342175.6_Missense_Mutation_p.P1383L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1429	ZIS5.						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)			CATCCGTGCAGGAGACATCCT	0.483000													3	12					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49233689	49233689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49233689G>A	ENST00000308025.3	-	5	497	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	140	Glu-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GATAATGGCTGGGCCTGAAGA	0.453000													9	47					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24411109	24411109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24411109G>A	ENST00000330966.7	-	16	1984	c.1822C>T	c.(1822-1824)Caa>Taa	p.Q608*	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Nonsense_Mutation_p.Q607*|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.Q607*			Q5VTT5	MYOM3_HUMAN	myomesin 3	607	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTTGAACTTGAGCTGGAGGA	0.522000													13	214					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563973	8563973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8563973G>A	ENST00000423345.4	-	2	1239	c.719C>T	c.(718-720)tCc>tTc	p.S240F	PRAM1_ENST00000255612.3_Missense_Mutation_p.S240F			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	288	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGCGGCACGGACTTCTTAGG	0.617000													8	49					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109347931	109347931	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:109347931G>A	ENST00000283195.6	+	4	531		c.e4+1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAACTAAAGGTAAACAAACA	0.323000													16	116					0	0	1	0	0
ACRBP	84519	broad.mit.edu	37	12	6749307	6749307	+	Silent	SNP	C	C	T	rs146172116		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6749307C>T	ENST00000229243.2	-	8	1437	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Silent_p.T415T	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	448						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CACAGCCTTTCGTGGCAAGCC	0.562000													4	47					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718642	24718642	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24718642C>T	ENST00000206765.6	-	15	2454	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q	TGM1_ENST00000544573.1_Silent_p.Q335Q	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	777					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CACCGTGCACCTGGGAGAGCT	0.612000													5	53					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124377955	124377955	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124377955C>T	ENST00000409039.3	+	52	8842	c.8817C>T	c.(8815-8817)acC>acT	p.T2939T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2939	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGGGGACACCCTGAGGACCT	0.582000													5	61					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943132	12943132	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12943132G>A	ENST00000235349.5	-	2	154	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	28										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGGGTGGACATGGCCA	0.587000													56	150					0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145518256	145518256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:145518256G>A	ENST00000369306.3	+	3	507	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	PEX11B_ENST00000537888.1_Missense_Mutation_p.A106T	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	120					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGAAGTGGGCCCAGCGTTC	0.453000													12	117					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562682	179562682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179562682G>A	ENST00000444136.1	+	3	570	c.320G>A	c.(319-321)gGa>gAa	p.G107E	TDRD5_ENST00000367614.1_Missense_Mutation_p.G107E|TDRD5_ENST00000294848.8_Missense_Mutation_p.G107E	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	107					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGCATAAGGGAAGACCTAGT	0.458000													14	36					0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	998080	998080	+	Nonsense_Mutation	SNP	C	C	T	rs121965025		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:998080C>T	ENST00000453894.1	+	11	2015	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	IDUA_ENST00000247933.4_Nonsense_Mutation_p.R621*|IDUA_ENST00000514224.1_Nonsense_Mutation_p.R489*			P35475	IDUA_HUMAN	iduronidase, alpha-L-	621					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CTACCGAGTTCGAGCCCTGGA	0.662000													9	63					0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032628	46032628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46032628G>A	ENST00000334662.2	+	1	633	c.611G>A	c.(610-612)aGa>aAa	p.R204K	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	204	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						TCCTGCTGCAGACCCTCCTCC	0.662000													13	127					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108380811	108380811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:108380811C>T	ENST00000265843.4	-	6	5533	c.5423G>A	c.(5422-5424)cGa>cAa	p.R1808Q	EXPH5_ENST00000428840.1_Missense_Mutation_p.R1732Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1620Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1801Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1808					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATGGCTTTTTCGTAGTAGATC	0.453000													7	71					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994567	140994567	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140994567C>T	ENST00000285879.4	+	4	1663	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	459							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.488000										HNSCC(15;0.026)			15	48					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503308	140503308	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140503308C>T	ENST00000194152.1	+	1	1728	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		576	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGGTGCCCCGGGCGGCCG	0.701000													10	83					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484986	43484986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:43484986G>A	ENST00000395891.1	+	11	2820	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	HECW1_ENST00000453890.1_Missense_Mutation_p.E739K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	739					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E718*(1)|p.E739*(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAGACGACGAGGAGGAGGA	0.642000													14	94					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669314	95669314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95669314G>A	ENST00000298912.4	-	9	2485	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	791						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GCTGGCACTGGGGAGGCTCTC	0.637000													6	41					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887386	48887386	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48887386C>T	ENST00000262105.2	+	14	2438	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	MCM4_ENST00000523944.1_Silent_p.A743A	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	743					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TAGCAGAAGCCCATGCTAAAG	0.478000													22	149					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089878	9089878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9089878C>T	ENST00000397910.4	-	1	2140	c.1937G>A	c.(1936-1938)gGt>gAt	p.G646D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGGGACACCGTTCGTGGC	0.567000													13	71					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788232	21788232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21788232G>A	ENST00000206660.6	+	11	1363	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E428K|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E455K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E97K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E428K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	455					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GCATAAACAGGAAGTAGAGCT	0.428000													5	22					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020129	56020129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56020129C>T	ENST00000303059.3	+	1	454	c.454C>T	c.(454-456)Cac>Tac	p.H152Y		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGCTTATGATCACTATGTAGC	0.408000													10	87					0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46002882	46002882	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46002882C>T	ENST00000376741.4	+	6	1853	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	572					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GTGACGAGCTCCAACGGCATG	0.632000													26	96					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756976	71756976	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756976G>A	ENST00000318442.5	-	2	838	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGGGCTGCGGGAACAGCAAAG	0.582000													27	165					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702970	27702970	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702970C>T	ENST00000438700.3	-	1	327	c.210G>A	c.(208-210)gaG>gaA	p.E70E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	70					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGTCCCCCTCTGGCAGGG	0.711000													15	62					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7721110	7721110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7721110G>A	ENST00000572933.1	+	67	11632	c.10172G>A	c.(10171-10173)tGg>tAg	p.W3391*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W3391*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3391	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTCCAGGTGGGCACTGATG	0.642000													6	36					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2611206	2611206	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2611206C>T	ENST00000402050.2	+	4	361	c.177C>T	c.(175-177)tcC>tcT	p.S59S	IQCE_ENST00000404984.1_Intron|IQCE_ENST00000438376.2_Silent_p.S43S|IQCE_ENST00000325979.7_5'UTR	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	59										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCTGGAGGTCCCTCAGGACGG	0.597000													16	70					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390841	78390841	+	Silent	SNP	C	C	T	rs143243521	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:78390841C>T	ENST00000238561.5	+	8	999	c.900C>T	c.(898-900)ttC>ttT	p.F300F	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.F232F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	307	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGATGATCTTCGTCAATGGCT	0.582000													13	94					0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278554	79278554	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79278554G>A	ENST00000332012.5	-	0	1039					NR_038080.1																						TCTGGTCCAGGGGCCTGGGTT	0.682000													3	11					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36142655	36142655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:36142655G>A	ENST00000296603.4	-	3	683	c.221C>T	c.(220-222)cCt>cTt	p.P74L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	74						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTATTCTCAGGAGGGCTTGA	0.368000													12	83					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58988660	58988660	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58988660C>T	ENST00000596341.1	+	2	2295	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ZNF446_ENST00000594369.1_Silent_p.A25A|ZNF446_ENST00000335841.4_Silent_p.A25A			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	25					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGAGACTGCCCGCCTCCGCT	0.657000													9	117					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191903929	191903929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:191903929G>A	ENST00000392320.2	-	16	1744	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	STAT4_ENST00000470708.1_5'UTR|STAT4_ENST00000358470.4_Missense_Mutation_p.S477F	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	477					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTCTACCTGGGAATCGTTGGT	0.428000													9	50					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733075	152733075	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152733075G>A	ENST00000368773.1	+	2	1069	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	KPRP_ENST00000606109.1_Silent_p.Q337Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	337	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCAGGCAGGTTCCCCCAC	0.632000													6	49					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29913002	29913002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29913002C>T	ENST00000308748.5	+	1	962	c.710C>T	c.(709-711)cCg>cTg	p.P237L	ASPHD1_ENST00000483405.1_5'UTR	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	237					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ACTACCCCTCCGCCTCGGGGC	0.697000													7	65					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25331747	25331747	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25331747C>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000549804.2_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ATACCGTCATCCTCGTCGAAC	0.468000													10	69					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44432451	44432451	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44432451C>T	ENST00000372343.3	+	17	3182	c.2520C>T	c.(2518-2520)ttC>ttT	p.F840F	IPO13_ENST00000372339.3_Silent_p.F58F	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	840					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCTGTGGCTTCTTTGTGAGTC	0.587000													6	30					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686128	100686128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100686128G>A	ENST00000306151.4	+	3	11495	c.11431G>A	c.(11431-11433)Gaa>Aaa	p.E3811K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3811	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTACGAGTGAAAGAAGCAC	0.478000													4	42					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464174	141464174	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141464174T>C	ENST00000247879.2	+	1	278	c.216T>C	c.(214-216)tcT>tcC	p.S72S	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	72					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TAGAATTCTCTCCCAACACAC	0.398000													17	71					0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217688185	217688185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:217688185G>A	ENST00000366935.3	-	6	1255	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	382						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGAATCCGGGGAAAAATGAAC	0.358000													4	16					0	0	1	0	0
C4orf17	84103	broad.mit.edu	37	4	100434256	100434256	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100434256G>A	ENST00000514652.1	+	2	372	c.18G>A	c.(16-18)ccG>ccA	p.P6P	C4orf17_ENST00000326581.4_Silent_p.P6P			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	6										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TCAACCCCCCGACATCTGCTC	0.473000													14	16					0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3722937	3722937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3722937G>A	ENST00000254963.2	+	4	293	c.148G>A	c.(148-150)Gag>Aag	p.E50K	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	50							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCAGAAACCCGAGGTCCGAGC	0.587000													5	49					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645853	39645853	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39645853G>A	ENST00000393986.2	-	2	326	c.114C>T	c.(112-114)tcC>tcT	p.S38S	KRT36_ENST00000328119.6_Silent_p.S88S			O76013	KRT36_HUMAN	keratin 36	88	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				TGCCGTTGAAGGAGCCCTCGC	0.632000													29	70					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190151	38190151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38190151G>A	ENST00000355202.4	-	5	1476	c.881C>T	c.(880-882)tCc>tTc	p.S294F	ZNF607_ENST00000395835.3_Missense_Mutation_p.S293F|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CACAAGGTGGGAAAACTGACG	0.423000													8	50					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932653	153932653	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153932653G>T	ENST00000368623.3	-	3	1655	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	SLC39A1_ENST00000310483.6_Missense_Mutation_p.S299Y|SLC39A1_ENST00000356205.4_Missense_Mutation_p.S299Y|SLC39A1_ENST00000368621.1_Missense_Mutation_p.S299Y|SLC39A1_ENST00000537590.1_Missense_Mutation_p.S197Y			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	299						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCTTTGCTCAGAACTGGCCAG	0.567000													23	84					3.5997e-14	3.66435e-14	1	1	0
OR10W1	81341	broad.mit.edu	37	11	58034437	58034437	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58034437C>T	ENST00000395079.2	-	1	1295	c.894G>A	c.(892-894)agG>agA	p.R298R		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAAGGCAGTTCCTGGTAAGAA	0.493000													5	54					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33875357	33875357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33875357G>A	ENST00000374408.3	-	4	1321	c.1225C>T	c.(1225-1227)Ctc>Ttc	p.L409F		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	409										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTATAGAGCCCAGGAGGG	0.627000													7	35					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41419077	41419077	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:41419077C>T	ENST00000551295.2	+	21	2766	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	CNTN1_ENST00000348761.2_Silent_p.A872A|CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.A883A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	883	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCGGGGCCTGCAATAGTG	0.473000													6	56					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038487	159038487	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159038487A>T	ENST00000368130.4	-	3	555	c.267T>A	c.(265-267)gaT>gaA	p.D89E	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	89					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGTATTGCTTATCAACTGATT	0.368000													9	38					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28739453	28739453	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:28739453G>T	ENST00000257197.3	-	2	364	c.103C>A	c.(103-105)Ctt>Att	p.L35I	DSC1_ENST00000257198.5_Missense_Mutation_p.L35I|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	35					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAACTCGAAGATAAACTTTC	0.328000													4	30					0.014758	0.0148893	1	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797893	31797893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:31797893C>T	ENST00000390690.2	-	1	393	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	113						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTCCTGGATCCACAGCTCAG	0.502000													5	16					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20113831	20113831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20113831C>T	ENST00000396085.1	+	29	6102	c.5741C>T	c.(5740-5742)tCc>tTc	p.S1914F	NAV2_ENST00000540292.1_Missense_Mutation_p.S1901F|NAV2_ENST00000311043.8_Missense_Mutation_p.S975F|NAV2_ENST00000533917.1_Missense_Mutation_p.S975F|NAV2_ENST00000396087.3_Missense_Mutation_p.S1970F|NAV2_ENST00000360655.4_Missense_Mutation_p.S1847F|NAV2_ENST00000349880.4_Missense_Mutation_p.S1911F|NAV2_ENST00000527559.2_Missense_Mutation_p.S1899F	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1970						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGGCTCCTTCCCAAGTGTCC	0.562000													8	80					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811673	42811673	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42811673C>T	ENST00000398600.2	+	10	1514	c.489C>T	c.(487-489)acC>acT	p.T163T	MX1_ENST00000455164.2_Silent_p.T163T|MX1_ENST00000288383.6_Silent_p.T140T|MX1_ENST00000398598.3_Silent_p.T163T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	163					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGCTAATCACCCTGGAGATCA	0.498000													5	86					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176316540	176316540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:176316540C>T	ENST00000292432.5	-	8	847	c.756G>A	c.(754-756)atG>atA	p.M252I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	252	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGCCTCCTCCATGTAACACG	0.637000													4	25					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056797	64056797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64056797C>T	ENST00000411458.1	+	9	1416	c.1388C>T	c.(1387-1389)cCt>cTt	p.P463L	GPR137_ENST00000313074.3_Missense_Mutation_p.P405L|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	405						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGGCCGGCTCCTTGCTGCTCC	0.667000													32	135					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73751256	73751256	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73751256C>T	ENST00000276033.5	+	6	1876	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	SLC16A2_ENST00000587091.1_Silent_p.F496F			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	496						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCCTCTTCTTCGTCCCTCTGA	0.532000													5	20					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125883	8125883	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:8125883C>T	ENST00000223145.5	+	8	1916	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	453										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGGTTAATTTCATCCCAACCG	0.433000													8	135					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50563091	50563091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50563091G>A	ENST00000444124.2	-	9	1101	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	DDC_ENST00000357936.5_Missense_Mutation_p.P301S|DDC_ENST00000380984.4_Missense_Mutation_p.P301S|DDC_ENST00000426377.1_Missense_Mutation_p.P223S|DDC_ENST00000431062.1_Missense_Mutation_p.P208S	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	301					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CATTTGTGGGGATTAAAGTTG	0.378000													4	38					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21239331	21239331	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21239331G>A	ENST00000233242.1	-	21	3439	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1104					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATGAGGGCGACCTCAGTAA	0.478000													21	304					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39645993	39645993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39645993G>A	ENST00000328119.6	-	1	123	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	42	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCACCGGCGAGACTGGGGACC	0.622000													9	57					0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18557152	18557152	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18557152G>T	ENST00000262809.4	-	10	1742	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	557					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGAGCTGCCGGAGCTGGGCGT	0.677000			T	MLL	AL								8	12					0.000274275	0.000277461	1	1	0
STRIP2	57464	broad.mit.edu	37	7	129104486	129104486	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:129104486C>T	ENST00000249344.2	+	16	1723	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	STRIP2_ENST00000435494.2_Silent_p.I561I	NM_020704.2	NP_065755.1			striatin interacting protein 2																		AGCTGGGCATCGATGTGAACA	0.478000													10	52					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26898006	26898006	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26898006C>T	ENST00000374168.2	+	18	1811	c.1657C>T	c.(1657-1659)Ctg>Ttg	p.L553L	RPS6KA1_ENST00000531382.1_Silent_p.L562L|RPS6KA1_ENST00000530003.1_Silent_p.L537L|RPS6KA1_ENST00000526792.1_Silent_p.L461L|RPS6KA1_ENST00000374162.2_Silent_p.L461L|RPS6KA1_ENST00000374166.4_Silent_p.L542L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	553	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCGAGTGCCTGCGCATCTG	0.582000													5	42					0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640603	58640603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58640603C>T	ENST00000598312.1	-	4	501	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	ZNF329_ENST00000358067.4_Missense_Mutation_p.G90S	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCATGGAAACCATTTGTTGCC	0.468000													13	113					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62465666	62465666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:62465666G>A	ENST00000541428.1	-	20	1623	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	ASPH_ENST00000379454.4_Missense_Mutation_p.S517F	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	517					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGGATCTCCGGATTCTATTCC	0.393000													13	64					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111844	142111844	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142111844G>A	ENST00000390378.1	-	0	15																											ACCCAGCAGAGGAGCCCGGGG	0.602000													3	22					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38353980	38353980	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38353980G>A	ENST00000373023.2	-	10	1167	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	INPP5B_ENST00000373026.1_Silent_p.S358S|INPP5B_ENST00000373024.3_Silent_p.S278S|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Silent_p.S114S|INPP5B_ENST00000458109.2_Silent_p.S41S	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	358					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTTTGGGGGACTGCCCAT	0.468000													9	62					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784088	24784088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24784088G>A	ENST00000376451.2	+	3	1106	c.846G>A	c.(844-846)atG>atA	p.M282I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.M599I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.M282I|KIAA1217_ENST00000430453.2_Missense_Mutation_p.M485I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.M282I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.M519I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.M282I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M564I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.M564I			Q5T5P2	SKT_HUMAN	KIAA1217	599					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAAATGATGAAAACCACAG	0.433000													4	30					0	0	1	0	0
LSMEM2	132228	broad.mit.edu	37	3	50316590	50316590	+	Missense_Mutation	SNP	G	G	A	rs145420790		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50316590G>A	ENST00000316436.3	+	1	133	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_153215.1	NP_694947.1			leucine-rich single-pass membrane protein 2																		CATGCCTGAGGAGACCCAAGA	0.602000													4	39					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38126810	38126810	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38126810G>A	ENST00000301659.4	+	4	586	c.468G>A	c.(466-468)gtG>gtA	p.V156V		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	156					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGATGGAGGTGGTGGAGACGG	0.567000													5	10					0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66366651	66366651	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66366651C>T	ENST00000533244.1	+	3	618	c.177C>T	c.(175-177)agC>agT	p.S59S	CCS_ENST00000310190.4_Silent_p.S40S	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	59	HMA.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						CTCTACCCAGCCAGGAGGTGC	0.627000													5	77					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124750327	124750327	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:124750327C>T	ENST00000397801.1	+	27	4164	c.3972C>T	c.(3970-3972)ctC>ctT	p.L1324L	ROBO3_ENST00000538940.1_Silent_p.L1302L|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_Silent_p.L87L	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1324					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGGCCTGGCTCCCATACAGCA	0.637000													4	17					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644652	169644652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169644652C>T	ENST00000428432.2	+	6	991	c.602C>T	c.(601-603)tCc>tTc	p.S201F	SAMD7_ENST00000335556.3_Missense_Mutation_p.S201F	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	201										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCTGAGAGTTCCAAAAGTCAA	0.463000													4	30					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964923	3964923	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:3964923G>A	ENST00000545797.2	-	3	372	c.129C>T	c.(127-129)ttC>ttT	p.F43F	DAPK3_ENST00000301264.3_Silent_p.F43F			O43293	DAPK3_HUMAN	death-associated protein kinase 3	43	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTTGATGAACTTGGCTG	0.657000													13	94					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588393	31588393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31588393C>T	ENST00000379416.3	-	23	2522	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCATGCATCGCACAGGGCG	0.577000													6	81					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19496170	19496170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:19496170G>A	ENST00000328041.6	+	3	507	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	104						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACAAACGAGGATAGAAGACA	0.527000													4	91					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40059777	40059777	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40059777C>T	ENST00000336649.4	+	22	3546	c.3546C>T	c.(3544-3546)gtC>gtT	p.V1182V	CACNA1I_ENST00000400164.3_Silent_p.V1141V|CACNA1I_ENST00000402142.3_Silent_p.V1176V|CACNA1I_ENST00000401624.1_Silent_p.V1176V|CACNA1I_ENST00000407673.1_Silent_p.V1141V|CACNA1I_ENST00000404898.1_Silent_p.V1141V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1176					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTACGTCGTCCTGGCCTTCA	0.632000													12	143					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824491	74824491	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74824491C>T	ENST00000256362.4	+	2	1246	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	335					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						TTCAGCAGTTCCTCCAGCGGT	0.662000													11	67					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008787	11008787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11008787C>T	ENST00000377004.4	-	12	1404	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	C1orf127_ENST00000377008.4_Missense_Mutation_p.E302K	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	320										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ATCCCTGCTTCCCCTGGGGGA	0.647000													5	126					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67400524	67400524	+	Silent	SNP	G	G	A	rs149888346		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67400524G>A	ENST00000335385.3	-	5	687	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	200				FV -> LL (in Ref. 3; AAC23481).	anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GTGGGTCCACGAAGACCACGT	0.562000													28	162					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779044	36779044	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779044G>A	ENST00000416516.2	-	2	1597	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	369	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.V369V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						ACTCCTTCACGACAGCAAAGT	0.572000													4	36					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331667	70331667	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70331667G>A	ENST00000338508.4	-	32	4733	c.4734C>T	c.(4732-4734)atC>atT	p.I1578I	SHANK2_ENST00000409161.1_Silent_p.I981I|SHANK2_ENST00000449833.2_Silent_p.I982I|SHANK2_ENST00000423696.2_Silent_p.I1198I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1198					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			cgggcggggggATAACAAAGC	0.577000													10	72					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441075	149441075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:149441075C>T	ENST00000286301.3	-	13	2128	c.1837G>A	c.(1837-1839)Gtg>Atg	p.V613M	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	613	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCACAGCCACCTTCAGGACA	0.622000													7	76					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30313211	30313211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30313211C>T	ENST00000262643.3	+	10	1184	c.905C>T	c.(904-906)tCg>tTg	p.S302L	CCNE1_ENST00000444983.2_Missense_Mutation_p.S287L|CCNE1_ENST00000357943.5_Missense_Mutation_p.S259L	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	302					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTTGCTGCTTCGGCCTTGTAT	0.443000			A		serous ovarian								19	124					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791139	106791139	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106791139C>T	ENST00000390613.2	-	0	296																											TTACTTCCATCATATGATATA	0.512000													9	214					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540947	40540947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40540947G>A	ENST00000434248.1	-	5	1884	c.1819C>T	c.(1819-1821)Cat>Tat	p.H607Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H459Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	607					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)					TCACCAGTATGAAATTTCTGA	0.423000													5	46					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89083224	89083224	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:89083224C>T	ENST00000554922.1	-	42	5891		c.e42-1		EML5_ENST00000352093.5_Splice_Site|EML5_ENST00000380664.5_Splice_Site	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5							cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCTAGAATACTAGAGGGAAG	0.413000													5	45					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153430437	153430437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153430437C>T	ENST00000368723.3	-	3	261	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	S100A7_ENST00000368722.1_Missense_Mutation_p.G51S	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	51	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAATTTGTGCCCTTTTTGTCC	0.413000													4	50					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32209516	32209516	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:32209516C>T	ENST00000396193.1	-	3	782	c.189G>A	c.(187-189)ggG>ggA	p.G63G		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCTTGACATTCCCTGTGAGCC	0.517000													8	39					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322016	57322016	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57322016G>A	ENST00000340573.4	-	3	612	c.6C>T	c.(4-6)atC>atT	p.I2I	UBE2L6_ENST00000287156.4_Silent_p.I68I	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	68					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						TTGTGAATTTGATCATGGGAG	0.537000													14	160					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159340	18159340	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18159340C>T	ENST00000396275.2	+	3	952	c.591C>T	c.(589-591)gtC>gtT	p.V197V		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGCCTGGTCCTGCTGGTCA	0.522000													12	66					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361447	70361447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:70361447C>T	ENST00000305107.6	-	1	179	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E45K|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	45					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E45K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAAGTTCATCCAGGATT	0.448000													4	20					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564525	46564525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46564525G>A	ENST00000458649.2	-	7	1460	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	AMBRA1_ENST00000528950.1_Missense_Mutation_p.P348S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P258S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P258S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P348S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P348S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P348S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	348					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGATGGAAGGGCTCGGTCTGT	0.612000													21	89					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504765	113504765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:113504765C>T	ENST00000297405.5	-	31	5475	c.5231G>A	c.(5230-5232)gGa>gAa	p.G1744E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1640E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1744E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1704E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1744	Sushi 9.					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						TCCATCATCTCCCATGATACA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	39					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822521	45822521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45822521G>A	ENST00000177694.1	+	6	1608	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	466					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGAGGGACGGGGACCAGAG	0.657000													5	28					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6935375	6935375	+	Missense_Mutation	SNP	G	G	A	rs138546589		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6935375G>A	ENST00000311268.3	+	4	1859	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	GPR162_ENST00000382315.3_Missense_Mutation_p.D54N|GPR162_ENST00000428545.2_Missense_Mutation_p.D74N	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	358						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGGCTGTGACGACTATGCAGA	0.592000											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	55					0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38465025	38465025	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38465025G>A	ENST00000373016.3	-	2	228	c.60C>T	c.(58-60)atC>atT	p.I20I	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	20					muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTCTGTCTGGATGTACTTGC	0.537000													11	49					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230397	91230397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:91230397C>T	ENST00000509176.1	+	2	1250	c.962C>T	c.(961-963)cCt>cTt	p.P321L	CCSER1_ENST00000432775.2_Missense_Mutation_p.P321L|CCSER1_ENST00000333691.8_Missense_Mutation_p.P321L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		ATTATGTCTCCTGGGAAATAT	0.418000													7	22					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37555367	37555367	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37555367C>T	ENST00000264741.5	+	9	1267	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V	ITGA9_ENST00000422441.1_Silent_p.V337V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	337					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGGGACAGGTCACTGTCTACA	0.582000													7	81					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371267	371267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:371267G>A	ENST00000342640.4	-	6	733	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	THEG_ENST00000346878.2_Missense_Mutation_p.R207C	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	231					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTCAGGCGACTCGACGCT	0.652000													21	169					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063773	9063773	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9063773G>A	ENST00000397910.4	-	3	23876	c.23673C>T	c.(23671-23673)ttC>ttT	p.F7891F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7893	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATGTAGAGAACCAGCTGA	0.498000													4	37					0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65417870	65417870	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65417870C>A	ENST00000533601.2	-	4	584		c.e4-1		RAB15_ENST00000426039.3_Splice_Site|RAB15_ENST00000436278.2_Splice_Site|RAB15_ENST00000267512.5_Splice_Site|CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		AAAATATCCCCTGAGAGAGAG	0.517000													4	53					1	1	1	1	0
ANO2	57101	broad.mit.edu	37	12	5672726	5672726	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5672726C>T	ENST00000356134.5	-	27	2810	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	ANO2_ENST00000546188.1_Silent_p.V913V|ANO2_ENST00000327087.8_Silent_p.V912V	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	917						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCAGGAACATCACGAGGTTCT	0.557000													8	79					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071631	240071631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240071631G>A	ENST00000255380.4	+	5	1659	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	294					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CAGCAGTTACGAACTTCAACA	0.547000													7	27					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5208026	5208026	+	Silent	SNP	G	G	A	rs138437349		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5208026G>A	ENST00000372412.4	-	37	5921	c.5688C>T	c.(5686-5688)atC>atT	p.I1896I	PTPRS_ENST00000357368.4_Silent_p.I1895I|PTPRS_ENST00000262963.6_Silent_p.I1875I|PTPRS_ENST00000587303.1_Silent_p.I1895I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Silent_p.I1448I|PTPRS_ENST00000348075.2_Silent_p.I1857I|PTPRS_ENST00000588012.1_Silent_p.I1857I|PTPRS_ENST00000353284.2_Silent_p.I1448I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1895	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCTCCAGCACGATGCTAAGCG	0.602000													12	39					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116635	28116635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:28116635C>T	ENST00000535992.1	-	3	516	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	PTHLH_ENST00000395872.1_Missense_Mutation_p.R57Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.R57Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Missense_Mutation_p.R57Q|PTHLH_ENST00000545234.1_Missense_Mutation_p.R57Q|PTHLH_ENST00000201015.4_Missense_Mutation_p.R57Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.R57Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.R57Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	57	Important for receptor binding.				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.R57Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					AAGGAAGAATCGTCGCCGTAA	0.473000													19	103					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5215583	5215583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5215583G>A	ENST00000372412.4	-	27	4356	c.4123C>T	c.(4123-4125)Ccc>Tcc	p.P1375S	PTPRS_ENST00000357368.4_Missense_Mutation_p.P1374S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1354S|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1374S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P927S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1336S|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1336S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P927S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1374					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCTGCGATGGGAATTGGCGGG	0.672000													8	62					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41572498	41572498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41572498C>T	ENST00000396942.1	-	15	1780	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	ANK1_ENST00000379758.2_Missense_Mutation_p.G566E|ANK1_ENST00000396945.1_Missense_Mutation_p.G566E|ANK1_ENST00000289734.7_Missense_Mutation_p.G566E|ANK1_ENST00000347528.4_Missense_Mutation_p.G566E|ANK1_ENST00000352337.4_Missense_Mutation_p.G566E|ANK1_ENST00000265709.8_Missense_Mutation_p.G599E			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	566	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACTTTTCCGGCAGCATT	0.587000													7	48					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542270	12542270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:12542270G>A	ENST00000301547.5	-	4	913	c.716C>T	c.(715-717)tCc>tTc	p.S239F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	239					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						TCTTAGATAGGAACTGTAAAA	0.358000													11	84					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11996013	11996013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11996013C>T	ENST00000333796.3	-	1	573	c.257G>A	c.(256-258)gGa>gAa	p.G86E	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	86					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGTATTTCCCATATTCTG	0.567000													10	99					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1481879	1481879	+	Missense_Mutation	SNP	G	G	A	rs139735568		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1481879G>A	ENST00000297508.7	-	7	1835	c.1660C>T	c.(1660-1662)Ccg>Tcg	p.P554S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P342S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	554						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCTGGCTTCGGCCTGGAGCCA	0.677000													11	122					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999137	143999137	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:143999137G>A	ENST00000323110.2	-	1	122	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	40					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.A40A(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGGGCATGGCTTCAAACG	0.652000									Familial Hyperaldosteronism type I				16	79					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069012	40069012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40069012G>A	ENST00000336649.4	+	31	4726	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K	CACNA1I_ENST00000400164.3_Missense_Mutation_p.E1535K|CACNA1I_ENST00000402142.3_Missense_Mutation_p.E1570K|CACNA1I_ENST00000401624.1_Missense_Mutation_p.E1570K|CACNA1I_ENST00000407673.1_Missense_Mutation_p.E1535K|CACNA1I_ENST00000404898.1_Missense_Mutation_p.E1535K			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1570					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACCCTGGAGGAGATCGAGAT	0.612000													15	77					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638727	65638727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65638727C>T	ENST00000307998.6	-	4	498	c.268G>A	c.(268-270)Gac>Aac	p.D90N	EFEMP2_ENST00000528176.1_Missense_Mutation_p.D90N	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	90					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CCGTGTAGGTCGTTGATGACG	0.647000													8	162					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109797389	109797389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:109797389C>T	ENST00000230122.3	-	4	1360	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGTATGAACTCGGTAATGGCT	0.368000													6	37					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786120	112786120	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112786120G>A	ENST00000295408.4	+	19	2936	c.2679G>A	c.(2677-2679)ctG>ctA	p.L893L	MERTK_ENST00000421804.2_Silent_p.L893L|MERTK_ENST00000409780.1_Silent_p.L717L			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	893					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTGCTCCACTGGACTTGAACA	0.542000													12	101					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184801295	184801295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184801295G>A	ENST00000335012.2	-	2	443	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	85										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						GGCCTGGCAGGAATCTCAGTG	0.473000													5	72					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325007	150325007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150325007C>T	ENST00000328902.5	-	3	895	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	227							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAATCTCCTTCGTTTTCCCAC	0.512000													9	102					0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46786217	46786217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46786217C>T	ENST00000442359.2	-	1	28	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PRSS50_ENST00000460241.1_Intron	NM_199183.2	NP_954652.2	Q7RTY3	PRS45_HUMAN	protease, serine, 45	10	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CATCCGGAGGCTCACCTCCCA	0.597000													4	28					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335538	42335538	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42335538C>T	ENST00000262418.6	-	11	1253	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	366					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCTGGGCCCCCATTTAAGT	0.582000													8	71					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22212977	22212977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22212977G>A	ENST00000356766.6	+	23	3029	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	PIWIL2_ENST00000454009.2_Missense_Mutation_p.E961K|PIWIL2_ENST00000521356.1_Missense_Mutation_p.E925K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	961				E -> G (in Ref. 2; BAB55155).	DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTGCATCATGAACCAGCCAT	0.537000													6	29					0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842231	5842231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5842231G>A	ENST00000317037.2	+	1	688	c.666G>A	c.(664-666)atG>atA	p.M222I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTACACTATGATTTTGCAGG	0.433000													5	35					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879131	879131	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:879131G>A	ENST00000342066.3	+	13	1826	c.1743G>A	c.(1741-1743)gaG>gaA	p.E581E		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	581	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGACGGAGGAGCACCTGCTGA	0.672000													7	42					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69957191	69957191	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:69957191G>A	ENST00000358913.5	+	16	3729	c.3241G>A	c.(3241-3243)Gat>Aat	p.D1081N	MYPN_ENST00000540630.1_Missense_Mutation_p.D1081N|MYPN_ENST00000354393.2_Missense_Mutation_p.D806N	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1081	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCTCCTGGGGATATGGTAGC	0.493000													7	53					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245121	238245121	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238245121C>T	ENST00000295550.4	-	40	9074	c.8622G>A	c.(8620-8622)acG>acA	p.T2874T	COL6A3_ENST00000346358.4_Silent_p.T2674T|COL6A3_ENST00000353578.4_Silent_p.T2668T|COL6A3_ENST00000347401.3_Silent_p.T2673T|COL6A3_ENST00000409809.1_Silent_p.T2668T|COL6A3_ENST00000472056.1_Silent_p.T2267T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2874	Nonhelical region.|Thr-rich.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCGGCTTCGTTGTCGTCA	0.433000													15	133					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	351820	351820	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:351820G>A	ENST00000343164.4	-	4	490	c.438C>T	c.(436-438)atC>atT	p.I146I	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	146					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGGGCAGGTCGATGGTGAAGC	0.552000													4	30					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528027	61528027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61528027G>A	ENST00000266070.4	-	7	2235	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	DIDO1_ENST00000395335.2_Missense_Mutation_p.A637V|DIDO1_ENST00000395340.1_Missense_Mutation_p.A637V|DIDO1_ENST00000395343.1_Missense_Mutation_p.A637V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	637					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTCCTTACGGCTCCCACCAA	0.617000													14	81					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567246	33567246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33567246G>A	ENST00000262873.7	+	4	363	c.271G>A	c.(271-273)Gtc>Atc	p.V91I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	49	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGGCCGAGGTCAAGTCGGA	0.607000													6	29					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57062238	57062238	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57062238C>T	ENST00000436936.1	+	8	2409	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	NLRC5_ENST00000262510.6_Silent_p.A728A|NLRC5_ENST00000539144.1_Silent_p.A728A|NLRC5_ENST00000308149.7_Silent_p.A728A			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	728					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AAATCACTGCCCGAGGCATCA	0.547000													10	76					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137623452	137623452	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137623452C>T	ENST00000371817.3	+	8	1689	c.1275C>T	c.(1273-1275)agC>agT	p.S425S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	425	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		accccACCAGCTCCCCGTCGG	0.632000													11	107					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310283	168310283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168310283C>T	ENST00000519560.1	-	5	891	c.472G>A	c.(472-474)Gat>Aat	p.D158N	SLIT3_ENST00000332966.8_Missense_Mutation_p.D158N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D158N	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	158					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTCACATCGGTGATGCCG	0.507000													4	40					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676679	100676679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100676679C>T	ENST00000306151.4	+	3	2046	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	661	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTGTGACCACTTCAACT	0.478000													22	221					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344324	56344324	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56344324G>A	ENST00000526812.2	-	1	939	c.874C>T	c.(874-876)Cta>Tta	p.L292L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTTCCGTAGGCTATAGATC	0.388000													15	174					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694973	42694973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42694973G>A	ENST00000398652.3	+	3	326	c.260G>A	c.(259-261)gGg>gAg	p.G87E	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398646.3_Missense_Mutation_p.G71E|FAM3B_ENST00000357985.2_Missense_Mutation_p.G48E			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	48					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CGCAGCATCGGGGAGAGGCCT	0.607000													8	55					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17597146	17597146	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:17597146T>A	ENST00000226299.4	+	8	1251	c.977T>A	c.(976-978)aTt>aAt	p.I326N	AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.I295N	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	326					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AATTTGCCCATTAATATTATA	0.448000													13	77					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52242083	52242083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:52242083G>A	ENST00000299601.5	-	10	1780	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	LEO1_ENST00000315141.5_Nonsense_Mutation_p.R514*	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	574					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCATCGTATCGATCAGGTTCC	0.527000													18	88					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042626	90042626	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:90042626C>T	ENST00000535571.1	+	2	945	c.636C>T	c.(634-636)tcC>tcT	p.S212S	CLDN12_ENST00000287916.4_Silent_p.S212S|CLDN12_ENST00000394605.2_Silent_p.S212S	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	212					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CATTGTACTCCCATCCACCCA	0.438000													6	114					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716743	40716743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40716743C>T	ENST00000393818.2	+	4	1520	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	COASY_ENST00000421097.2_Missense_Mutation_p.P355L|COASY_ENST00000449624.1_Missense_Mutation_p.P60L|COASY_ENST00000590958.1_Missense_Mutation_p.P384L|COASY_ENST00000420359.1_Missense_Mutation_p.P355L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	355	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCAGAGCTCCCCACATGTCTC	0.572000													20	119					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47226197	47226197	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47226197G>A	ENST00000391910.3	-	14	2247	c.1797C>T	c.(1795-1797)gtC>gtT	p.V599V	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.V592V|STRN4_ENST00000539396.1_Silent_p.V473V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	592						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGAGGTGGGGACCCCGTGCT	0.667000													5	56					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56088288	56088288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56088288G>A	ENST00000257880.7	-	18	2647	c.2428C>T	c.(2428-2430)Ctt>Ttt	p.L810F	ITGA7_ENST00000452168.2_Missense_Mutation_p.L673F|ITGA7_ENST00000553804.1_Missense_Mutation_p.L770F|ITGA7_ENST00000347027.6_Missense_Mutation_p.L760F|ITGA7_ENST00000394230.2_Missense_Mutation_p.L770F|ITGA7_ENST00000257879.6_Missense_Mutation_p.L766F|ITGA7_ENST00000394229.2_Missense_Mutation_p.L766F|ITGA7_ENST00000555728.1_Missense_Mutation_p.L810F			Q13683	ITA7_HUMAN	integrin, alpha 7	810					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGGTGCTAAGGATGAGGTAG	0.582000													5	31					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787464	167787464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167787464G>A	ENST00000367848.1	-	31	4549	c.4052C>T	c.(4051-4053)tCc>tTc	p.S1351F	ADCY10_ENST00000367851.4_Missense_Mutation_p.S1443F|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.S1290F			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1443					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGCTCTATTGGAAAATTTGTA	0.383000													6	49					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41262768	41262768	+	Silent	SNP	C	C	T	rs121917767		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:41262768C>T	ENST00000284440.4	+	4	423	c.279C>T	c.(277-279)atC>atT	p.I93I	UCHL1_ENST00000508768.1_Silent_p.I93I|UCHL1_ENST00000503431.1_Silent_p.I93I|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Silent_p.I93I	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	93			I -> M (in PARK5; impaired enzymatic hydrolase activity; has about a 50% reduction in catalytic activity compared to wild-type protein).		cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						GTGGCACAATCGGACTTATTC	0.443000													7	84					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15512123	15512123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15512123C>T	ENST00000435459.2	-	11	606	c.607G>A	c.(607-609)Ggt>Agt	p.G203S	COLQ_ENST00000383788.5_Splice_Site_p.G213_splice|COLQ_ENST00000603808.1_Splice_Site_p.G213_splice|COLQ_ENST00000383786.5_Splice_Site_p.G179_splice|COLQ_ENST00000383781.4_Splice_Site_p.G203_splice|COLQ_ENST00000383785.2_Splice_Site_p.G213_splice|COLQ_ENST00000383787.2_Splice_Site_p.G204_splice			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	213	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCCATTTCACCCTGGAAAGAA	0.532000													8	104					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710878	14710878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14710878C>T	ENST00000547437.1	+	12	855	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	CLEC17A_ENST00000417570.1_Missense_Mutation_p.P260S|CLEC17A_ENST00000397439.2_Missense_Mutation_p.P243S	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	260						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGGCTGGCTGCCCTTTGAGGG	0.527000													9	36					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45748058	45748058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45748058G>A	ENST00000297323.7	+	18	2949	c.2927G>A	c.(2926-2928)cGa>cAa	p.R976Q		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	976					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTTGTCCTCCGAGTTGGTATG	0.512000													8	69					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897117	49897117	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49897117G>A	ENST00000477224.1	-	11	1618	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	CAMKV_ENST00000467248.1_Silent_p.A305A|CAMKV_ENST00000488336.1_Intron|CAMKV_ENST00000463537.1_Intron|CAMKV_ENST00000296471.7_Silent_p.A352A|CAMKV_ENST00000466940.1_Intron			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	380	Ala-rich.					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)		GGTCTGCGGGGGCCACATTAT	0.647000													10	100					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545943	138545943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138545943C>T	ENST00000440172.1	-	16	5237	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1730Q|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1680Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1730						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGTGGCTCGCCTCTCTTC	0.637000			O	BRAF	pilocytic astrocytoma								8	78					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48757187	48757187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48757187G>A	ENST00000285238.8	+	26	3814	c.3734G>A	c.(3733-3735)cGa>cAa	p.R1245Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1245	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGATGATACGAATGATGTCA	0.527000													5	59					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999569	99999569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99999569G>A	ENST00000398027.2	-	17	1814	c.1567C>T	c.(1567-1569)Cct>Tct	p.P523S	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	523							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGGTGCAGGAGGAGCTGTG	0.547000													8	118					0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566731	103566731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:103566731C>T	ENST00000380069.3	+	1	251	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	59										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCCTTCTCCCGGGCCAGCCA	0.657000													3	13					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31816309	31816309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:31816309C>T	ENST00000419022.1	-	9	1061	c.593G>A	c.(592-594)gGa>gAa	p.G198E	PAX6_ENST00000379107.2_Missense_Mutation_p.G198E|PAX6_ENST00000379132.3_Missense_Mutation_p.G184E|PAX6_ENST00000379111.2_Missense_Mutation_p.G184E|PAX6_ENST00000379115.4_Missense_Mutation_p.G198E|PAX6_ENST00000379123.5_Missense_Mutation_p.G184E|PAX6_ENST00000379129.2_Missense_Mutation_p.G198E|PAX6_ENST00000241001.8_Missense_Mutation_p.G184E	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	184	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGTATTCTCTCCCCCTCCTTC	0.463000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				4	79					0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110465858	110465858	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110465858C>T	ENST00000329608.6	+	6	1006	c.615C>T	c.(613-615)gtC>gtT	p.V205V	CSF1_ENST00000344188.5_Silent_p.V205V|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369802.3_Silent_p.V205V|CSF1_ENST00000369801.1_Silent_p.V205V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	205					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGCCTCTGTCTCCCCTCATC	0.607000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	97					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453481	32453481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32453481G>A	ENST00000341377.5	+	2	753	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	NRG1_ENST00000287840.5_Missense_Mutation_p.R79Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R58Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R79Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R79Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R79Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R79Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R79Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R294Q|NRG1_ENST00000405005.2_Missense_Mutation_p.R79Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R79Q			Q02297	NRG1_HUMAN	neuregulin 1	79	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAATTGAATCGAAAAAACAAA	0.373000													4	15					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26689584	26689584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26689584G>A	ENST00000272371.2	-	36	4624	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W	OTOF_ENST00000339598.3_Missense_Mutation_p.R733W|OTOF_ENST00000338581.6_Missense_Mutation_p.R733W|OTOF_ENST00000403946.3_Missense_Mutation_p.R1500W|OTOF_ENST00000402415.3_Missense_Mutation_p.R810W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1500	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTCACCCGGACCACATAG	0.587000													5	51					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62049186	62049186	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62049186G>A	ENST00000578147.1	-	4	583	c.507C>T	c.(505-507)acC>acT	p.T169T	SCN4A_ENST00000435607.1_Silent_p.T169T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	169					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGACTCAAAGGTGTAGATCC	0.592000													7	28					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814328	137814328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:137814328G>A	ENST00000409968.1	+	3	656	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E129K|THSD7B_ENST00000543459.1_Missense_Mutation_p.E19K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E160K					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)		TGAAATATGCGAACACTTTGC	0.517000													15	69					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49948261	49948261	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:49948261A>G	ENST00000257981.6	+	11	2320	c.2060A>G	c.(2059-2061)gAg>gGg	p.E687G		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	687					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGTACCCCGAGTTTGCCCCG	0.632000													7	82					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601593	61601593	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61601593T>A	ENST00000583023.1	+	2	181	c.170T>A	c.(169-171)gTg>gAg	p.V57E	KCNH6_ENST00000456941.2_Missense_Mutation_p.V57E|KCNH6_ENST00000314672.5_Missense_Mutation_p.V57E|KCNH6_ENST00000580652.1_Missense_Mutation_p.V57E|KCNH6_ENST00000581784.1_Missense_Mutation_p.V57E	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	57	PAS.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TACTCCCGAGTGGAGGTGATG	0.612000													10	164					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844472	5844472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5844472G>A	ENST00000303225.6	-	3	1013	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	FUT3_ENST00000589620.1_Missense_Mutation_p.P127S|FUT3_ENST00000589918.1_Missense_Mutation_p.P127S|FUT3_ENST00000458379.2_Missense_Mutation_p.P127S	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	127					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGCCCCTGCGGCCTCGGGGAA	0.597000													19	97					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489500	76489500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76489500C>T	ENST00000311623.4	+	2	279	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	C4orf26_ENST00000435974.2_Silent_p.S96S	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	82						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GCCCAGAATCCATTTTAGGTT	0.512000													8	97					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46771899	46771899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46771899G>A	ENST00000529230.1	-	42	5675	c.5629C>T	c.(5629-5631)Cag>Tag	p.Q1877*	CKAP5_ENST00000354558.3_Nonsense_Mutation_p.Q1817*|CKAP5_ENST00000415402.1_Nonsense_Mutation_p.Q1884*|CKAP5_ENST00000312055.5_Nonsense_Mutation_p.Q1817*			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1877					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATAGCTCTGGAAGAACTGT	0.428000													5	23					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98819908	98819908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98819908C>T	ENST00000266058.4	-	10	1194	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SLIT1_ENST00000371041.3_Missense_Mutation_p.E317K|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E317K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	317					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGTTCAGCTCCAGGCGTCTG	0.597000													7	57					0	0	1	0	0
ADCYAP1	116	broad.mit.edu	37	18	905492	905492	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:905492G>A	ENST00000579794.1	+	1	383	c.105G>A	c.(103-105)ggG>ggA	p.G35G	ADCYAP1_ENST00000450565.3_Silent_p.G35G|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	35					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGTTCCCCGGGATCAGGTAGG	0.642000													9	35					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65330539	65330539	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:65330539G>A	ENST00000342505.4	-	8	1355	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	369	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGATTTCAGGGAAGTAAGAAA	0.378000			Mis		ALL								4	33					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	G	A	rs145316984		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:119936933G>A	ENST00000297350.4	-	5	1264	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	296	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463000													6	31					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122666886	122666886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122666886C>T	ENST00000284273.5	+	8	1511	c.1136C>T	c.(1135-1137)cCc>cTc	p.P379L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	379						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AACAGCCAGCCCGGCCCCCAG	0.547000											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	65					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6702615	6702615	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6702615G>A	ENST00000309577.6	-	16	2644	c.2481C>T	c.(2479-2481)gcC>gcT	p.A827A	CHD4_ENST00000544484.1_Silent_p.A824A|CHD4_ENST00000357008.2_Silent_p.A827A|CHD4_ENST00000544040.1_Silent_p.A820A			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	827	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CACCACGAATGGCATTGTCTT	0.507000													13	107					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3139882	3139882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:3139882G>A	ENST00000446632.2	-	6	1034	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	IL5RA_ENST00000456302.1_Missense_Mutation_p.H154Y|IL5RA_ENST00000256452.3_Missense_Mutation_p.H154Y|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Missense_Mutation_p.H154Y|IL5RA_ENST00000418488.2_Missense_Mutation_p.H154Y|IL5RA_ENST00000311981.8_Missense_Mutation_p.H154Y|IL5RA_ENST00000438560.1_Missense_Mutation_p.H154Y|IL5RA_ENST00000383846.1_Missense_Mutation_p.H154Y	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	154					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAGGTGCAGTGAAGGGAAACT	0.423000													4	48					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908248	158908248	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158908248G>A	ENST00000368140.1	+	3	572	c.327G>A	c.(325-327)caG>caA	p.Q109Q	PYHIN1_ENST00000368138.3_Silent_p.Q100Q|PYHIN1_ENST00000368135.4_Silent_p.Q109Q|PYHIN1_ENST00000392252.3_Silent_p.Q100Q|PYHIN1_ENST00000392254.2_Silent_p.Q109Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	109					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGACGAAACAGAAAGAAGTGT	0.428000													9	53					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206241	121206241	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121206241G>A	ENST00000353487.2	-	8	1163	c.660C>T	c.(658-660)gcC>gcT	p.A220A		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	221						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCTGAGTGGCCACCTTCA	0.542000													14	112					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183694641	183694641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183694641C>T	ENST00000511685.1	+	23	5032	c.4909C>T	c.(4909-4911)Cgt>Tgt	p.R1637C	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Missense_Mutation_p.R1637C					teneurin transmembrane protein 3																		CAGTGAAGGTCGTCTGACAAA	0.403000													17	70					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006118	74006118	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74006118C>T	ENST00000301607.3	-	22	3421	c.3168G>A	c.(3166-3168)ctG>ctA	p.L1056L	EVPL_ENST00000586740.1_Silent_p.L1078L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1056	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCCTTCTTCAGCCCTTCCA	0.612000													28	139					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128028988	128028988	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128028988G>A	ENST00000493187.2	-	12	2140	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	ERCC3_ENST00000285398.2_Silent_p.L623L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	623	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)		AGATCTGAATGAGGACATTTG	0.453000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	135					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397658	111397658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:111397658G>A	ENST00000265162.5	+	1	430	c.88G>A	c.(88-90)Gga>Aga	p.G30R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	30					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGTGGGTGTAGGATTAATAGT	0.557000													9	155					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96578027	96578027	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:96578027A>G	ENST00000376747.3	-	20	2272	c.2200_splice	c.e20-1	p.D734_splice		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	734					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTATACTCTCATCTGAAAGTT	0.294000													6	10					0	0	1	0	0
IGKV3D-20	28874	broad.mit.edu	37	2	90077780	90077780	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:90077780G>A	ENST00000390270.2	+	0	101																											GGGAACCATGGAAACCCCAGC	0.577000													5	70					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689749	153689749	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153689749T>G	ENST00000369682.3	+	3	1080	c.905T>G	c.(904-906)cTg>cGg	p.L302R		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	302	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCTGGCCTGCTGCTGGCC	0.662000													12	50					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61749456	61749456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61749456C>T	ENST00000423902.2	+	17	4549	c.4070C>T	c.(4069-4071)tCt>tTt	p.S1357F	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1357	Helicase C-terminal.				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)			AAACCTGATTCTGATAGGTTT	0.478000													8	74					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090197	34090197	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34090197G>A	ENST00000373381.4	-	35	5723	c.5547C>T	c.(5545-5547)tcC>tcT	p.S1849S	CSMD2_ENST00000373380.1_Silent_p.S722S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1809	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAAGCCAGGGGACAGGATGG	0.657000													14	84					0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139569247	139569247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139569247G>A	ENST00000371696.2	-	5	666	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S	AGPAT2_ENST00000538402.1_Missense_Mutation_p.P201S|AGPAT2_ENST00000371694.3_Missense_Mutation_p.P169S	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	201					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TACACCACGGGGACGATGGGC	0.627000													4	76					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348617	3348617	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348617G>A	ENST00000378398.3	+	17	3691	c.3609G>A	c.(3607-3609)gaG>gaA	p.E1203E	PRDM16_ENST00000378391.2_Silent_p.E1203E|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000442529.2_Silent_p.E1202E|PRDM16_ENST00000441472.2_Silent_p.E1202E|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Silent_p.E1203E|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1203	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GAGCAGCTGAGGAAGCATTTG	0.522000			T	EVI1	"""MDS, AML"""								13	82					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286926	152286926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152286926C>T	ENST00000368799.1	-	3	471	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	146					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCTGTTTCTCTTGGGCTC	0.348000									Ichthyosis				14	83					0	0	1	0	0
KLF9	687	broad.mit.edu	37	9	73002723	73002723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:73002723C>T	ENST00000377126.2	-	2	1964	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	235					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTTTTTCGATCGCTTGATCAT	0.597000													5	54					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595100	1595100	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1595100G>A	ENST00000297477.5	-	2	337	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	7						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTGTCTCCAGGATCCCTGAGA	0.667000													5	79					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5897526	5897526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5897526C>T	ENST00000378961.4	+	3	355	c.151C>T	c.(151-153)Cca>Tca	p.P51S	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	51						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTCCAGCGCTCCACCCATCAC	0.562000													5	53					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44073309	44073309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44073309C>T	ENST00000272286.2	+	3	271	c.181C>T	c.(181-183)Cag>Tag	p.Q61*		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	61	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGGCCTCTCAGGTCCCTTG	0.527000													77	136					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139281519	139281519	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139281519G>A	ENST00000406875.3	-	12	2755	c.2661C>T	c.(2659-2661)gtC>gtT	p.V887V	HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Silent_p.V860V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	887	Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGATGGTGATGACGCTGACCG	0.652000													31	104					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515251	56515251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56515251C>T	ENST00000390649.3	+	2	232	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	78	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAAGAATTTCAGACATTCAA	0.438000													11	51					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424898	91424898	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91424898C>T	ENST00000268171.3	+	16	2454	c.2175C>T	c.(2173-2175)atC>atT	p.I725I		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	725					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.I725I(1)|p.V717fs*18(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCGCCTTCATCGTGCTGGTCT	0.662000													166	414					0	0	1	0	0
HYKK	123688	broad.mit.edu	37	15	78805750	78805750	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:78805750C>T	ENST00000566332.1	+	2	380	c.320C>T	c.(319-321)gCt>gTt	p.A107V	HYKK_ENST00000569878.1_Missense_Mutation_p.A107V|HYKK_ENST00000408962.2_Missense_Mutation_p.A107V|HYKK_ENST00000563233.1_Missense_Mutation_p.A107V|HYKK_ENST00000360519.3_Missense_Mutation_p.A107V|HYKK_ENST00000388988.4_Missense_Mutation_p.A107V					hydroxylysine kinase																		GACAACACAGCTTCTCTCGTG	0.453000													8	47					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129902429	129902429	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129902429G>A	ENST00000368654.3	-	13	8050	c.7675C>T	c.(7675-7677)Ctg>Ttg	p.L2559L	MKI67_ENST00000368653.3_Silent_p.L2199L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2559	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGTCAACCAGGTCTTCTAGA	0.488000													7	74					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725351	106725351	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106725351G>A	ENST00000390609.2	-	0	279																											TAATAGCTGAGACCCACTCCA	0.572000													9	127					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783979	54783979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:54783979C>T	ENST00000218436.6	-	8	2557	c.2528G>A	c.(2527-2529)gGa>gAa	p.G843E		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	843	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CAAGAGGATTCCAGGCCCCAG	0.507000													6	52					0	0	1	0	0
RILP	83547	broad.mit.edu	37	17	1551761	1551761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1551761G>A	ENST00000301336.6	-	5	976	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	235					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCTCCGAGGGGCGCCCGAG	0.637000													4	48					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225033	158225033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158225033G>A	ENST00000289429.5	+	2	751	c.218G>A	c.(217-219)gGa>gAa	p.G73E		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	73					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGTCCAGGGGAAACTTCAGC	0.483000													18	60					0	0	1	0	0
SLC22A18	5002	broad.mit.edu	37	11	2940591	2940591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2940591C>T	ENST00000380574.1	+	8	1249	c.818C>T	c.(817-819)gCc>gTc	p.A273V	SLC22A18_ENST00000449793.2_Missense_Mutation_p.A175V|SLC22A18_ENST00000312221.5_Missense_Mutation_p.A273V|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000347936.2_Missense_Mutation_p.A273V			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	273					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGCTGGAGGCCGCCCAAGCT	0.647000													44	274					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935642	49935642	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49935642G>A	ENST00000296474.3	-	5	1749	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	MST1R_ENST00000344206.4_Silent_p.F574F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	574	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGGGGGTGGAACTGAAATG	0.592000													5	83					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98810890	98810890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98810890G>A	ENST00000477737.1	+	12	1876	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	VWA3B_ENST00000435344.1_Missense_Mutation_p.E558K|VWA3B_ENST00000451075.2_Missense_Mutation_p.E408K	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	558	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTTGGCGGGAACAACTTGC	0.383000													7	202					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42956258	42956258	+	Silent	SNP	G	G	A	rs150625034		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42956258G>A	ENST00000327678.5	+	8	702	c.600G>A	c.(598-600)acG>acA	p.T200T	RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Intron|SERHL2_ENST00000407614.4_Silent_p.T20T|SERHL2_ENST00000335879.5_Silent_p.T136T	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	200						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						GAGGAACCACGAAGGTGGCCA	0.522000													7	113					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091478	36091478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:36091478G>A	ENST00000378660.1	+	4	601	c.413G>A	c.(412-414)aGa>aAa	p.R138K	CHDC2_ENST00000313548.4_Missense_Mutation_p.R138K					calponin homology domain containing 2																		GAGACTATAAGAAGGTGAGAG	0.353000													4	16					0	0	1	0	0
ABI2	10152	broad.mit.edu	37	2	204245048	204245048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:204245048C>T	ENST00000295851.4	+	3	699	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ABI2_ENST00000424558.1_Missense_Mutation_p.R135C|ABI2_ENST00000422511.2_Missense_Mutation_p.R135C|ABI2_ENST00000261017.5_Missense_Mutation_p.R135C|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.R135C|ABI2_ENST00000261016.6_Missense_Mutation_p.R90C			Q9NYB9	ABI2_HUMAN	abl-interactor 2	135					actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	p.R135C(1)		breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						ACGACCAGTTCGTTATATTAG	0.328000													7	98					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201331106	201331106	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201331106C>T	ENST00000509001.1	-	13	910	c.624G>A	c.(622-624)aaG>aaA	p.K208K	TNNT2_ENST00000360372.4_Silent_p.K203K|TNNT2_ENST00000367317.4_Silent_p.K208K|TNNT2_ENST00000367315.2_Silent_p.K205K|TNNT2_ENST00000236918.7_Silent_p.K213K|TNNT2_ENST00000367320.2_Silent_p.K175K|TNNT2_ENST00000367318.5_Silent_p.K208K|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367322.1_Silent_p.K205K|TNNT2_ENST00000458432.2_Silent_p.K217K|TNNT2_ENST00000421663.2_Silent_p.K211K	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	218					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GAATCTTCTTCTTCTTTTCCC	0.577000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	173					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75147668	75147668	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:75147668C>T	ENST00000300051.4	-	7	1045	c.999G>A	c.(997-999)caG>caA	p.Q333Q	LDHD_ENST00000450168.2_Silent_p.Q310Q	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	333							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CCTCCAGTGCCTGCTGGGAGC	0.622000													5	74					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74560742	74560742	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74560742C>T	ENST00000321288.5	+	7	1098	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	CCDC33_ENST00000398814.3_Silent_p.V163V			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	366							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACGCAACAGTCGTTCGGAAGA	0.607000													5	39					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136573491	136573491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:136573491G>A	ENST00000371872.4	-	11	1645	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	SARDH_ENST00000422262.2_Missense_Mutation_p.S295F|SARDH_ENST00000439388.1_Missense_Mutation_p.S463F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	463					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CTTGGCGTAGGACTCATGGCT	0.652000													15	73					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237172	30237172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:30237172G>A	ENST00000378988.4	+	2	576	c.475G>A	c.(475-477)Ggc>Agc	p.G159S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	159	MAGE.						protein binding	p.G159C(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCTCTGAGGGCCTCAGTGT	0.458000													3	10					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570493	31570493	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31570493G>A	ENST00000379416.3	-	29	3219	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1057					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TAGAGGTGGGGATTTTCAGAG	0.542000													24	66					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526224	189526224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:189526224C>T	ENST00000264731.3	+	4	577	c.488C>T	c.(487-489)cCc>cTc	p.P163L	TP63_ENST00000437221.1_Missense_Mutation_p.P69L|TP63_ENST00000456148.1_Missense_Mutation_p.P69L|TP63_ENST00000354600.5_Missense_Mutation_p.P69L|TP63_ENST00000382063.4_Intron|TP63_ENST00000392460.3_Missense_Mutation_p.P163L|TP63_ENST00000418709.2_Missense_Mutation_p.P163L|TP63_ENST00000392461.3_Missense_Mutation_p.P69L|TP63_ENST00000440651.2_Missense_Mutation_p.P163L|TP63_ENST00000392463.2_Missense_Mutation_p.P69L|TP63_ENST00000320472.5_Missense_Mutation_p.P163L|TP63_ENST00000449992.1_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	163					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCCATCACCCGCCATCCCC	0.632000										HNSCC(45;0.13)			4	30					0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102739120	102739120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102739120G>A	ENST00000318325.2	-	5	591	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S	SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.P222L	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	180					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCCACTGTGGGGAGGTCTGGC	0.527000													4	51					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104261	47104261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47104261C>T	ENST00000377107.2	+	15	2378	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	USP11_ENST00000218348.3_Missense_Mutation_p.T718I			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	718					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CAGCTGTTCACCCTGCAGACG	0.607000													7	16					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871379	100871379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100871379G>A	ENST00000539247.1	-	4	664	c.232C>T	c.(232-234)Cct>Tct	p.P78S	ARMCX6_ENST00000538627.1_Missense_Mutation_p.P78S|ARMCX6_ENST00000361910.4_Missense_Mutation_p.P78S|ARMCX6_ENST00000497931.1_Intron	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	78						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						GGGGCCCCAGGTTCAGTCCAA	0.557000													12	42					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30674595	30674595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30674595G>A	ENST00000534862.1	+	10	1303	c.940G>A	c.(940-942)Gag>Aag	p.E314K	HCK_ENST00000518730.1_Missense_Mutation_p.E312K|HCK_ENST00000375862.2_Missense_Mutation_p.E333K|HCK_ENST00000375852.2_Missense_Mutation_p.E334K|HCK_ENST00000538448.1_Missense_Mutation_p.E313K|HCK_ENST00000520553.1_Missense_Mutation_p.E313K	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	334	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATCATCACGGAGTTCATGGC	0.577000													8	53					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68571514	68571514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68571514G>A	ENST00000265641.5	-	5	663	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CPT1A_ENST00000540367.1_Missense_Mutation_p.S170L|CPT1A_ENST00000539743.1_Missense_Mutation_p.S170L|CPT1A_ENST00000376618.2_Missense_Mutation_p.S170L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	170					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCGAGGCAGCGATGTCTGGAA	0.498000													4	71					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995744	8995744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8995744G>A	ENST00000299698.7	+	12	1443	c.1263G>A	c.(1261-1263)atG>atA	p.M421I		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	265						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGTTTCAAATGGAAGACTTAG	0.453000													5	68					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54952870	54952870	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:54952870C>T	ENST00000173898.7	+	8	1717	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L	TRO_ENST00000319167.8_Silent_p.L535L|TRO_ENST00000399736.1_Silent_p.L138L|TRO_ENST00000375022.4_Silent_p.L535L|TRO_ENST00000375041.2_Silent_p.L138L|TRO_ENST00000420798.2_Silent_p.L66L	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	535	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AGCTGGGTCTCCTCATGGTGA	0.493000													4	10					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326413	85326413	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:85326413C>T	ENST00000299927.3	+	1	529	c.507C>T	c.(505-507)ttC>ttT	p.F169F	ZNF592_ENST00000560079.2_Silent_p.F169F			Q92610	ZN592_HUMAN	zinc finger protein 592	169					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGTTATTTCCCACCCCCTC	0.512000													12	146					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10719845	10719845	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10719845G>A	ENST00000377022.3	-	6	1571	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A	CASZ1_ENST00000344008.5_Silent_p.A418A	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGACAGGGAGGCAGGAGGCT	0.682000													6	101					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	G	A	rs141991055	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:189012810G>A	ENST00000512729.1	-	7	1255	c.881C>T	c.(880-882)tCg>tTg	p.S294L	TRIML2_ENST00000326754.3_Missense_Mutation_p.S319L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	294	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCCATCACCGACCCCGTGAG	0.572000													9	160					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559870	2559870	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2559870C>T	ENST00000222725.5	+	1	395	c.375C>T	c.(373-375)ttC>ttT	p.F125F	LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000359574.3_Silent_p.F125F|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	125					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCAAAAAGTTCCACCGCGCGC	0.751000													6	41					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57910339	57910339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:57910339G>A	ENST00000574161.1	+	3	390	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	GCOM1_ENST00000587652.1_Missense_Mutation_p.G91R|GCOM1_ENST00000380560.2_Missense_Mutation_p.G91R|MYZAP_ENST00000380565.4_Missense_Mutation_p.G91R|GCOM1_ENST00000572390.1_Missense_Mutation_p.G91R|GCOM1_ENST00000396180.1_Missense_Mutation_p.G91R|GCOM1_ENST00000380561.2_Missense_Mutation_p.G91R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.G91R|GCOM1_ENST00000380569.2_Missense_Mutation_p.G91R|MYZAP_ENST00000267853.5_Missense_Mutation_p.G91R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		91					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGGTGTATGGGTGGTCCAC	0.448000													4	40					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974974	20974974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20974974G>A	ENST00000261383.3	-	53	10231	c.10232C>T	c.(10231-10233)gCt>gTt	p.A3411V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3411					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A3411D(2)		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)		CCATTGGGGAGCTGGATTGGG	0.527000													7	47					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40842102	40842102	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40842102T>A	ENST00000582783.1	-	4	260	c.248A>T	c.(247-249)aAt>aTt	p.N83I	C19orf47_ENST00000392035.2_Missense_Mutation_p.N16I	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	83										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TATCTCCTTATTGAGATCCAG	0.597000													8	52					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955609	107955609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107955609C>T	ENST00000317357.5	+	6	2220	c.1561C>T	c.(1561-1563)Ccg>Tcg	p.P521S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	521	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGTGCCGCCCCCGACCCTGCT	0.667000													4	9					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79813082	79813082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79813082G>A	ENST00000331483.4	-	4	782	c.560C>T	c.(559-561)aCt>aTt	p.T187I	P4HB_ENST00000439918.2_Missense_Mutation_p.T143I|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000472244.1_5'UTR	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	187					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			ACTGTTGGAAGTGATCCCAAA	0.532000													19	247					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234750006	234750006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234750006G>A	ENST00000411486.2	-	8	1485	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	HJURP_ENST00000441687.1_Missense_Mutation_p.P389S|HJURP_ENST00000432087.1_Missense_Mutation_p.P420S	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	474					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AGGCCACCAGGACTCGCAGGA	0.537000													4	72					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209806	10209806	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10209806C>T	ENST00000418404.3	-	36	5599	c.5436G>A	c.(5434-5436)ggG>ggA	p.G1812G	MYH13_ENST00000252172.4_Silent_p.G1812G|MYH13_ENST00000570743.1_Silent_p.G1812G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1812					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTGCTTCTTCCCGCCCTTCA	0.552000													14	156					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159286	39159286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:39159286G>A	ENST00000359534.3	-	5	1218	c.880C>T	c.(880-882)Ctt>Ttt	p.L294F		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	294					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						TTCTTGGAAAGAAAGCTGAAG	0.607000													12	181					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211707	50211707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50211707G>A	ENST00000002829.3	+	5	864	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	SEMA3F_ENST00000434342.1_Missense_Mutation_p.R127Q|SEMA3F_ENST00000413852.1_Missense_Mutation_p.R59Q	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	127	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)		CCCTGGAACCGAACACACCTG	0.662000													5	72					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610487	106610487	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106610487C>T	ENST00000390603.2	-	0	262																											CCAGCCCCTTCCCTGGAGCCT	0.557000													18	44					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294772	110294772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110294772C>T	ENST00000369805.3	-	15	1511	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000361965.4_Missense_Mutation_p.E427K	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	427						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGTGTCTTCTCCTGAGGAAAG	0.552000													39	194					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92361396	92361396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92361396C>T	ENST00000267620.10	-	6	692	c.523G>A	c.(523-525)Gat>Aat	p.D175N	FBLN5_ENST00000556154.1_Missense_Mutation_p.D139N|FBLN5_ENST00000342058.4_Missense_Mutation_p.D134N			Q9UBX5	FBLN5_HUMAN	fibulin 5	134	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGTGGGAATCTGTTGCACAC	0.537000													9	54					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45919642	45919642	+	Silent	SNP	C	C	A	rs145799284	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45919642C>A	ENST00000395629.2	+	2	408	c.78C>A	c.(76-78)acC>acA	p.T26T	MAPK8IP1_ENST00000241014.2_Silent_p.T36T			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	36					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CCAGGCTCACCCATGACATCA	0.547000													5	26					5.9392e-07	6.02953e-07	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144873918	144873918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:144873918G>A	ENST00000369359.4	-	34	5485	c.5447C>T	c.(5446-5448)aCt>aTt	p.T1816I	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.T1680I|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.T1636I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.T1680I|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1680					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATTCTGGGGAGTTGGCAAGCT	0.522000			T	PDGFRB	MPD								7	272					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47852820	47852820	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47852820C>T	ENST00000289672.2	-	49	7295	c.7245G>A	c.(7243-7245)gaG>gaA	p.E2415E	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2415					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTAGGGGTTCTCAGGGCCTC	0.542000													6	113					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8235322	8235322	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8235322G>A	ENST00000520004.1	-	3	861	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SGK223_ENST00000330777.4_Silent_p.D199D			Q86YV5	SG223_HUMAN		199							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGAGGGCCGGTCTTGGTAAG	0.622000													6	74					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863178	4863178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4863178G>A	ENST00000573366.1	-	6	1156	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPAG7_ENST00000206020.3_Nonsense_Mutation_p.Q151*|SPAG7_ENST00000575142.1_Nonsense_Mutation_p.Q140*			O75391	SPAG7_HUMAN	sperm associated antigen 7	151	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGCCCCTGCTGGGCTGCCTCC	0.652000													9	50					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139611123	139611123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139611123C>T	ENST00000303045.6	-	61	4650	c.4204G>A	c.(4204-4206)Ggt>Agt	p.G1402S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1382S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1402	Collagen-like 14.|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)			CCTTTGTCACCTTTGATCCCA	0.577000										HNSCC(7;0.00092)			7	38					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212288919	212288919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:212288919G>A	ENST00000342788.4	-	23	3137	c.2827C>T	c.(2827-2829)Ccc>Tcc	p.P943S	ERBB4_ENST00000402597.1_Missense_Mutation_p.P933S|ERBB4_ENST00000436443.1_Missense_Mutation_p.P943S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	943	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTGCAGATGGGAGGCTGAGGC	0.388000										TSP Lung(8;0.080)			7	28					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462973	26462973	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:26462973G>A	ENST00000265944.5	+	30	3946	c.3780G>A	c.(3778-3780)agG>agA	p.R1260R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1260					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						ATCTAGAAAGGAAGGCCATAT	0.418000													5	33					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193505	28193505	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:28193505G>A	ENST00000302326.4	-	1	3981	c.3027C>T	c.(3025-3027)tcC>tcT	p.S1009S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1009							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCTTCCCCCAGGATGGCGACG	0.697000			T	ETV6	"""AML, meningioma"""								5	46					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	900523	900523	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:900523C>T	ENST00000338591.3	+	12	1988	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	627	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCTCAATTTCCCGCCGCCAT	0.642000													5	49					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212579	55212579	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:55212579G>A	ENST00000396834.1	+	17	2365	c.1869G>A	c.(1867-1869)gtG>gtA	p.V623V	IL31RA_ENST00000490985.1_Silent_p.V500V|IL31RA_ENST00000447346.2_Silent_p.V642V|IL31RA_ENST00000354961.4_Silent_p.V623V|IL31RA_ENST00000359040.5_Silent_p.V642V	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	610					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTTGGTGGTGAACTTTGGGA	0.448000													4	45					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49667911	49667911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:49667911C>T	ENST00000249601.4	-	5	771	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E69K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E50K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E69K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E165K|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E175K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	159	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGACTGTTTCCTCTAGGCGC	0.642000													8	37					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928583	13928583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13928583C>T	ENST00000254323.2	+	8	1555	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P290S	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	456							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGTGCCTGTGCCCGGGAGCCC	0.706000													5	30					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160168519	160168519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160168519C>T	ENST00000368079.3	+	8	1138	c.863C>T	c.(862-864)cCt>cTt	p.P288L	CASQ1_ENST00000467691.1_Missense_Mutation_p.P15L|CASQ1_ENST00000368078.3_Missense_Mutation_p.P294L	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	294						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAGCTGATCCTGGTGAGGGA	0.537000													7	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076411	9076411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9076411G>A	ENST00000397910.4	-	3	11238	c.11035C>T	c.(11035-11037)Cgt>Tgt	p.R3679C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3680	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGACACGAGAAAAAGTT	0.433000													5	26					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61845283	61845283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61845283G>A	ENST00000370339.3	-	3	406	c.65C>T	c.(64-66)tCg>tTg	p.S22L	YTHDF1_ENST00000370334.4_Missense_Mutation_p.S22L	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	22										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTGATGTAACGAACCATTTTG	0.323000													5	48					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371642	240371642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:240371642C>T	ENST00000319653.9	+	5	3760	c.3530C>T	c.(3529-3531)cCc>cTc	p.P1177L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1177	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCCGCCCCCTCTACCT	0.687000													5	5					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47950854	47950854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:47950854G>A	ENST00000426837.2	-	10	5195	c.5108C>T	c.(5107-5109)tCc>tTc	p.S1703F	MAP4_ENST00000264724.11_Missense_Mutation_p.S293F|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	0					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGTTGGCAAGGAAACGCTTTC	0.388000													11	58					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68364490	68364490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:68364490G>A	ENST00000295121.6	-	6	825	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.H237Y|WDR92_ENST00000406245.2_Missense_Mutation_p.H136Y	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	237					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCAAAAACATGGAACTTTCCT	0.353000													4	40					0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160165264	160165264	+	Silent	SNP	C	C	T	rs141157148	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160165264C>T	ENST00000368079.3	+	5	848	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CASQ1_ENST00000368078.3_Silent_p.F197F	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	197						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAAAGCCTTCGAGGATGCAG	0.557000													12	74					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140570	143140570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143140570G>A	ENST00000332690.1	+	1	25	c.25G>A	c.(25-27)Gga>Aga	p.G9R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	9					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CATGGTTCTAGGATCTTCGGT	0.483000													4	69					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465962	223465962	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223465962G>A	ENST00000343846.3	-	2	813	c.180C>T	c.(178-180)ccC>ccT	p.P60P	SUSD4_ENST00000344029.6_Silent_p.P60P|SUSD4_ENST00000366878.4_Silent_p.P60P|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	60	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGGGAATGCCGGGGTCAGCAC	0.517000													5	20					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2816884	2816884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2816884C>T	ENST00000301740.8	+	11	6904	c.6355C>T	c.(6355-6357)Cgt>Tgt	p.R2119C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2119	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTGCTTCAGTCGTCCTAGCAT	0.517000													11	156					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12062089	12062089	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12062089C>T	ENST00000235329.5	+	11	1411	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MFN2_ENST00000444836.1_Silent_p.V363V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	363					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGCACACGGTCCGGGCCAAGC	0.602000													19	149					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844140	15844140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15844140G>A	ENST00000338282.6	-	16	2019	c.1913C>T	c.(1912-1914)tCg>tTg	p.S638L	MYH11_ENST00000576790.1_Missense_Mutation_p.S638L|MYH11_ENST00000452625.2_Missense_Mutation_p.S645L|MYH11_ENST00000396324.3_Missense_Mutation_p.S645L|MYH11_ENST00000300036.5_Missense_Mutation_p.S638L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	638	Myosin head-like.				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						GCTGGGCAGCGAGCTCTCCGT	0.627000			T	CBFB	AML								4	29					0	0	1	0	0
CDCA7	83879	broad.mit.edu	37	2	174231977	174231977	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:174231977T>G	ENST00000306721.3	+	9	1388	c.1285T>G	c.(1285-1287)Tat>Gat	p.Y429D	CDCA7_ENST00000347703.3_Missense_Mutation_p.Y350D|CDCA7_ENST00000410019.3_Missense_Mutation_p.Y308D|CDCA7_ENST00000410101.3_Missense_Mutation_p.Y385D|CDCA7_ENST00000392567.2_Missense_Mutation_p.Y300D	NM_031942.4	NP_114148.3	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	350					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			TTTAGCCAAATATCATGGCTT	0.453000													9	51					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49238556	49238556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49238556C>T	ENST00000222145.4	-	4	1280	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	359					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTCTGCAGTTCCGATTTGGGC	0.672000													6	35					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750534	42750534	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42750534G>A	ENST00000310232.6	-	16	2169	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	696										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACCTGGCCCAGGATCTCATGG	0.617000													4	56					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912638	29912638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29912638C>T	ENST00000308748.5	+	1	598	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	116	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGGGGGTGTTCGTGGTGGGCC	0.697000													5	65					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811724	32811724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:32811724C>T	ENST00000380250.3	+	44	6515	c.6019C>T	c.(6019-6021)Cag>Tag	p.Q2007*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGACAGAATTCAGGCTTGTAC	0.537000													4	23					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76867039	76867039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76867039G>A	ENST00000262768.7	-	3	579	c.281C>T	c.(280-282)tCc>tTc	p.S94F	TIMP2_ENST00000586057.1_Missense_Mutation_p.S17F|TIMP2_ENST00000536189.2_Missense_Mutation_p.S17F|TIMP2_ENST00000585421.1_Missense_Mutation_p.S17F	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	94	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CACTGCCGAGGAGGGGGCCGT	0.542000													18	127					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070073	40070073	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40070073G>A	ENST00000352035.2	-	2	184	c.54C>T	c.(52-54)ttC>ttT	p.F18F	ACLY_ENST00000590151.1_Silent_p.F18F|ACLY_ENST00000353196.1_Silent_p.F18F|ACLY_ENST00000537919.1_Silent_p.F18F|ACLY_ENST00000393896.2_Silent_p.F18F	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	18					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.F18F(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGGTACAGATGAACTTGTAAA	0.562000													8	160					0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42671582	42671582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:42671582G>A	ENST00000306078.1	-	2	1398	c.803C>T	c.(802-804)tCt>tTt	p.S268F	KCNG3_ENST00000394973.4_Missense_Mutation_p.S257F	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	268						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CATCAACACAGAGATGTAATA	0.443000													4	79					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378053	55378053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55378053G>A	ENST00000326321.3	+	9	1268	c.1235G>A	c.(1234-1236)aGt>aAt	p.S412N	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S412N|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.S395N	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	412					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGAAAAATCAGTCGCCCTTCT	0.517000													18	205					0	0	1	0	0
TMEM50A	23585	broad.mit.edu	37	1	25669550	25669550	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25669550C>T	ENST00000374358.4	+	3	745	c.192C>T	c.(190-192)acC>acT	p.T64T	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	64						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTATAGCAACCATAGCCTTCC	0.348000													5	71					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348098	60348098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60348098C>T	ENST00000360469.5	+	4	524	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	CDH4_ENST00000543233.1_Missense_Mutation_p.P72S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	146					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGACCCCTCTCCGCCTCCGAA	0.602000													5	46					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140569	143140569	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143140569A>G	ENST00000332690.1	+	1	24	c.24A>G	c.(22-24)ctA>ctG	p.L8L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	8					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACATGGTTCTAGGATCTTCGG	0.483000													4	69					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298625	75298625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:75298625G>A	ENST00000304771.3	-	4	2671	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	MAP6_ENST00000526740.1_Missense_Mutation_p.P312S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	641	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGACCATGGGATCTTGATCC	0.512000													12	107					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4820812	4820812	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4820812C>T	ENST00000348624.4	+	2	142	c.48C>T	c.(46-48)atC>atT	p.I16I	AP5Z1_ENST00000401897.1_Silent_p.I16I	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	16					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										TTAGGGAGATCCAGGACGAGG	0.542000													9	75					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27287662	27287662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27287662G>A	ENST00000397501.1	+	11	1412	c.604G>A	c.(604-606)Gag>Aag	p.E202K	PTK2B_ENST00000544172.1_Missense_Mutation_p.E202K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E202K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E202K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E202K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E202K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	202	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GTCCAACTTCGAGCTCCTAGA	0.547000													40	239					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121685033	121685033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:121685033G>A	ENST00000452319.1	+	3	305	c.245G>A	c.(244-246)gGt>gAt	p.G82D	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G82D			P10070	GLI2_HUMAN	GLI family zinc finger 2	82					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCTGTCCACGGTGTGCACGGG	0.622000													17	106					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44269121	44269121	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44269121G>A	ENST00000244571.4	-	20	2681	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	893					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACTCACTGAGAGAGACTCAG	0.602000													9	166					0	0	1	0	0
VANGL2	57216	broad.mit.edu	37	1	160393950	160393950	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160393950C>T	ENST00000368061.2	+	7	1656	c.1182C>T	c.(1180-1182)atC>atT	p.I394I		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	394					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAAGCCATCTTTGCATCCA	0.592000													6	51					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17662831	17662831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17662831C>T	ENST00000399839.1	-	9	1591	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CECR1_ENST00000330232.4_Missense_Mutation_p.D200N|CECR1_ENST00000399837.2_Missense_Mutation_p.D441N|CECR1_ENST00000449907.2_Missense_Mutation_p.D399N|CECR1_ENST00000262607.3_Missense_Mutation_p.D441N			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	441					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCTGGGTCATCAGAGCTGATC	0.537000													4	49					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554581	150554581	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150554581C>T	ENST00000493429.1	+	4	1607	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	AOC1_ENST00000416793.2_Silent_p.F341F|AOC1_ENST00000360937.4_Silent_p.F341F|AOC1_ENST00000467291.1_Silent_p.F341F					amine oxidase, copper containing 1																		ACGTGCACTTCGGCGGAGAGC	0.632000													9	56					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90246318	90246318	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90246318C>T	ENST00000268130.7	+	3	542	c.441C>T	c.(439-441)tcC>tcT	p.S147S	WDR93_ENST00000560294.1_Silent_p.S147S|WDR93_ENST00000558000.1_Silent_p.S147S	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	147					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)			ATGTCACTTCCATCTGGGCCA	0.393000													6	82					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118681008	118681008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118681008G>A	ENST00000355371.4	-	12	1629	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	KIAA1598_ENST00000260777.10_Missense_Mutation_p.R378W|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.R318W|KIAA1598_ENST00000392903.2_Missense_Mutation_p.R378W	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	378					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GATCGTTTCCGGATCATGGAC	0.423000													6	22					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523961	23523961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:23523961C>T	ENST00000305877.8	+	1	1565	c.814C>T	c.(814-816)Ccg>Tcg	p.P272S	BCR_ENST00000359540.3_Missense_Mutation_p.P272S|BCR_ENST00000398512.5_Missense_Mutation_p.P272S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	272	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GCCCCCTTGGCCGCCCCTGGA	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	31					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876356	35876356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35876356C>T	ENST00000303115.3	+	8	1277	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	383					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCTATTCTCTCCTCTTCCAGG	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	12					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343592	343592	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:343592G>A	ENST00000262320.3	-	8	2453	c.2082C>T	c.(2080-2082)acC>acT	p.T694T	AXIN1_ENST00000354866.3_Silent_p.T694T	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	694	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGGTGGCATGGTGGGGTCTT	0.662000													18	150					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4542357	4542357	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4542357C>T	ENST00000570836.1	-	4	504	c.408G>A	c.(406-408)agG>agA	p.R136R	ALOX15_ENST00000545513.1_Silent_p.R158R|ALOX15_ENST00000293761.3_Silent_p.R136R|ALOX15_ENST00000574640.1_Silent_p.R97R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	136	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GGTACAACTTCCTTCTCTCTT	0.592000													10	97					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71187172	71187172	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71187172C>T	ENST00000234396.4	+	6	622	c.549C>T	c.(547-549)atC>atT	p.I183I	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.I183I	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	183					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCCAGAAGATCCCCATCTTCT	0.627000													6	69					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150418	247150418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247150418C>T	ENST00000339986.7	-	4	1546	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	467					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CCACATTCTTCACATTTGTAG	0.388000													5	24					0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45288250	45288250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45288250G>A	ENST00000372192.3	-	22	3579	c.3449C>T	c.(3448-3450)cCc>cTc	p.P1150L	PTCH2_ENST00000447098.2_Intron	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1150					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AAAGCTCTGGGGCAGGGAGGA	0.627000									Basal Cell Nevus syndrome				8	131					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670819	134670819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134670819G>A	ENST00000398015.3	+	3	1100	c.730G>A	c.(730-732)Ggg>Agg	p.G244R	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	244	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAACGGGGATGGGGAATGGAT	0.577000													8	117					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915875	126915875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126915875G>A	ENST00000398112.1	+	2	587	c.347G>A	c.(346-348)gGa>gAa	p.G116E		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCTCATAGGAAGTCCGTAT	0.587000													31	159					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50755728	50755728	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50755728G>A	ENST00000413817.2	-	5	518	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		GCACCTTCTGGAAGTAGCCCC	0.637000													10	30					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018477	23018477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:23018477G>A	ENST00000327968.5	+	1	391	c.303G>A	c.(301-303)atG>atA	p.M101I	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	101	KH.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ATAGGGAAATGAAAGCAAAGG	0.368000													4	32					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796883	210796883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:210796883C>T	ENST00000367010.1	+	11	1486	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	HHAT_ENST00000308852.6_Missense_Mutation_p.S375F|HHAT_ENST00000545781.1_Missense_Mutation_p.S357F|HHAT_ENST00000367009.1_Missense_Mutation_p.S110F|HHAT_ENST00000261458.3_Missense_Mutation_p.S420F|HHAT_ENST00000545154.1_Missense_Mutation_p.S421F|HHAT_ENST00000391905.3_Missense_Mutation_p.S420F|HHAT_ENST00000541565.1_Missense_Mutation_p.S283F|HHAT_ENST00000413764.2_Missense_Mutation_p.S420F|HHAT_ENST00000537898.1_Missense_Mutation_p.S355F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	420					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CGATACTTCTCCCCACAAGCT	0.527000													9	197					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105143	168105143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168105143G>A	ENST00000409195.1	+	9	7330	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	XIRP2_ENST00000295237.9_Missense_Mutation_p.G2414E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2192E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2239					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						ATCATAACAGGAAAAACCGGT	0.438000													4	20					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96950135	96950135	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96950135G>A	ENST00000323853.5	-	31	4430	c.4353C>T	c.(4351-4353)ttC>ttT	p.F1451F	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1451	Helicase ATP-binding 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CATCCACCACGAAGAGGTTGA	0.557000													15	50					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167645246	167645246	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:167645246G>A	ENST00000519204.1	+	22	4105	c.3987G>A	c.(3985-3987)gcG>gcA	p.A1329A	TENM2_ENST00000545108.1_Silent_p.A1449A|TENM2_ENST00000403607.2_Silent_p.A1274A|TENM2_ENST00000520394.1_Silent_p.A1211A|TENM2_ENST00000518659.1_Silent_p.A1450A					teneurin transmembrane protein 2																		GCATCATTGCGGGACGCCCCA	0.502000													15	118					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97236284	97236284	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:97236284C>T	ENST00000236228.6	+	5	391	c.309C>T	c.(307-309)acC>acT	p.T103T	PTBP2_ENST00000370197.1_Silent_p.T103T|PTBP2_ENST00000541987.1_Silent_p.T72T|PTBP2_ENST00000394184.3_Silent_p.T114T|PTBP2_ENST00000426398.2_Silent_p.T103T|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.T103T	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	103	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AACTAGCAACCGAGGAAGCAG	0.303000													4	45					0	0	1	0	0
GATSL3	652968	broad.mit.edu	37	22	30684753	30684753	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30684753G>A	ENST00000407689.3	-	2	255	c.126C>T	c.(124-126)ttC>ttT	p.F42F	RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Silent_p.F42F	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						CCGTCAGGCTGAAGAACTTGC	0.597000													5	29					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480929	20480929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20480929G>A	ENST00000573854.1	+	4	598	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ACSM2A_ENST00000575690.1_Missense_Mutation_p.E162K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E83K|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.E162K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E162K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E162K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	162					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCTGGGGATGAAGTCATCCA	0.448000													6	44					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455482	27455482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27455482C>T	ENST00000264705.4	+	18	2974	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	CAD_ENST00000403525.1_Missense_Mutation_p.L875F|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	938	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGTCCTAGTCCTTGGCTCTGG	0.512000													8	83					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763596	56763596	+	Missense_Mutation	SNP	G	G	A	rs138677398		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56763596G>A	ENST00000413728.2	-	10	1844	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.S434L|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.S460L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.S399L|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.S428L	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	428	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGCTTGTAGCGAGTGGGTCTG	0.423000													6	69					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702340	27702340	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27702340C>T	ENST00000438700.3	-	1	957	c.840G>A	c.(838-840)ctG>ctA	p.L280L		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	280					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGATGCTGCTCAGGTTGAGCG	0.627000													5	47					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212831	43212831	+	Missense_Mutation	SNP	C	C	T	rs146002380	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43212831C>T	ENST00000236040.4	-	14	2207	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	LEPRE1_ENST00000397054.3_Intron|LEPRE1_ENST00000462474.1_Intron|LEPRE1_ENST00000296388.5_Intron	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGCTCCTTTCGTGTCTCAGC	0.587000													17	87					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11775034	11775034	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:11775034C>T	ENST00000262442.3	+	52	10241	c.10173C>T	c.(10171-10173)ggC>ggT	p.G3391G	DNAH9_ENST00000454412.2_Silent_p.G3391G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3391					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTACCTTGGCTTCTTCACAA	0.488000													6	83					0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17716310	17716310	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:17716310G>A	ENST00000246090.5	+	4	389	c.126_splice	c.e4-1	p.A43_splice	BANF2_ENST00000545418.2_Splice_Site_p.A50_splice|BANF2_ENST00000377805.3_Splice_Site_p.A43_splice|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	43						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CCCTCCCCAGGCCTACATCCT	0.537000													18	64					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847020	95847020	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:95847020C>T	ENST00000398107.2	+	4	843	c.321C>T	c.(319-321)tcC>tcT	p.S107S	ZNF2_ENST00000295210.6_Silent_p.S111S|ZNF2_ENST00000425369.1_Silent_p.S69S|ZNF2_ENST00000340539.5_Silent_p.S149S|ZNF2_ENST00000453539.2_Silent_p.S162S	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GTAAGAAATCCCTCTCCCGGG	0.522000													11	69					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135762891	135762891	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135762891G>A	ENST00000250617.6	-	15	2908	c.1704_splice	c.e15+1	p.S568_splice	ARHGEF6_ENST00000535227.1_Splice_Site_p.S441_splice|ARHGEF6_ENST00000370620.1_Splice_Site_p.S414_splice|ARHGEF6_ENST00000370622.1_Splice_Site_p.S414_splice	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	568					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACTACTTACAGAATGAGCACT	0.468000													8	20					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882138	42882138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42882138C>T	ENST00000426548.1	-	3	1317	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	GJC1_ENST00000592524.1_Missense_Mutation_p.D350N|GJC1_ENST00000330514.4_Missense_Mutation_p.D350N|GJC1_ENST00000590758.1_Missense_Mutation_p.D350N	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	350					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACTGCCAGATCCAAGCGTTCC	0.577000													4	96					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907340	164907340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:164907340C>T	ENST00000475390.1	-	2	1722	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D427N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	427						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCCAAAAATCAGAACGGTAT	0.393000										HNSCC(40;0.11)			4	25					0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48474285	48474285	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48474285G>A	ENST00000395694.2	-	4	854	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C	CCDC51_ENST00000447018.1_Missense_Mutation_p.R148C|CCDC51_ENST00000442740.1_Missense_Mutation_p.R148C|CCDC51_ENST00000395696.1_Missense_Mutation_p.R257C|CCDC51_ENST00000412398.2_Missense_Mutation_p.R148C	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	257						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCTGCTGGCGGGAGTAGCTA	0.617000													6	89					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113329877	113329877	+	Silent	SNP	C	C	T	rs145960933	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:113329877C>T	ENST00000264852.4	+	18	2469	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Silent_p.I581I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	581						integral to membrane		p.I581I(1)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGTACATGATCGCTGGCCTGT	0.498000													4	56					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231186	7231186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:7231186G>A	ENST00000383467.2	+	1	64	c.50G>A	c.(49-51)aGg>aAg	p.R17K		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	17										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCCCCAAGAGGATGCTGTTC	0.632000													4	67					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25667891	25667891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25667891C>T	ENST00000382051.3	+	5	571	c.521C>T	c.(520-522)tCa>tTa	p.S174L	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S173L|SLC34A2_ENST00000503434.1_Missense_Mutation_p.S173L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	174					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTGTCCTCTTCATGTGAGTCG	0.572000			T	ROS1	NSCLC								5	55					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771980	143771980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771980C>T	ENST00000408898.2	+	1	706	c.668C>T	c.(667-669)gCc>gTc	p.A223V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATTCTATGTGCCATTCTAAAG	0.478000													11	77					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318767	3318767	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:3318767C>T	ENST00000336727.3	+	2	1774	c.870C>T	c.(868-870)gtC>gtT	p.V290V	RGS12_ENST00000344733.5_Silent_p.V290V|RGS12_ENST00000382788.3_Silent_p.V290V|RGS12_ENST00000543385.1_Silent_p.V290V	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	290	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGCTGGAGTCGTGGCCGAGT	0.617000													9	45					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362374	69362374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69362374G>A	ENST00000305363.4	+	10	1188	c.1124G>A	c.(1123-1125)gGa>gAa	p.G375E		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	375	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GACTCTGGAGGACCACTGGTT	0.393000													12	156					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80887143	80887143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80887143C>T	ENST00000355528.4	+	31	2978	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S	TBCD_ENST00000539345.2_Missense_Mutation_p.P950S	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	950					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AAAGCTGTTTCCCAGGTACTG	0.637000													4	25					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796238	1796238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1796238G>A	ENST00000539485.1	-	17	2013	c.1780C>T	c.(1780-1782)Ccc>Tcc	p.P594S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.P594S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.P547S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	594					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCGTCGGGGGAGGCCGCC	0.662000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	27					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541735	15541735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15541735C>T	ENST00000428417.1	+	2	598	c.152C>T	c.(151-153)aCc>aTc	p.T51I	TMEM51_ENST00000376008.2_Missense_Mutation_p.T51I|TMEM51_ENST00000400796.3_Missense_Mutation_p.T51I|TMEM51_ENST00000434578.2_Missense_Mutation_p.T51I|TMEM51_ENST00000376014.3_Missense_Mutation_p.T51I	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	51						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGCAACAAGACCGAGGTGGGT	0.627000													29	159					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453748	37453748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:37453748C>T	ENST00000379826.4	-	2	421	c.79G>A	c.(79-81)Gga>Aga	p.G27R	SMAD9_ENST00000350148.5_Missense_Mutation_p.G27R|SMAD9_ENST00000483941.1_5'UTR|SMAD9_ENST00000399275.2_Missense_Mutation_p.G27R	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	27	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TCTTCATCTCCTTGCTTCCAG	0.562000													10	66					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239990269	239990269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239990269G>A	ENST00000345617.3	-	23	3561	c.2770C>T	c.(2770-2772)Ccg>Tcg	p.P924S	HDAC4_ENST00000543185.1_Missense_Mutation_p.P508S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	924	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCACATCCGGGGCAAACTCG	0.602000													4	54					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373228	27373228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27373228C>T	ENST00000296096.5	+	2	590	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	154					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCACCCTCTCAAGGTAAG	0.627000													19	221					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128477558	128477558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128477558G>A	ENST00000325888.8	+	4	1067	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R269Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	269					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCCCCTGTTCGATCCAAGCAG	0.602000													9	70					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043854	20043854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043854C>T	ENST00000570682.1	-	2	565	c.265G>A	c.(265-267)Gat>Aat	p.D89N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	89						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AAGATGAAATCTTCCAACAGG	0.468000													6	34					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57835523	57835523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57835523C>T	ENST00000383718.3	+	5	597	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	SLMAP_ENST00000295951.3_Nonsense_Mutation_p.Q167*|SLMAP_ENST00000449503.2_Nonsense_Mutation_p.Q167*|SLMAP_ENST00000295952.3_Nonsense_Mutation_p.Q167*|SLMAP_ENST00000428312.1_Nonsense_Mutation_p.Q167*|SLMAP_ENST00000416870.1_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	167					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GGAACTATTCCAGCTTTCTCA	0.333000													9	119					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795121	45795121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45795121C>T	ENST00000357450.4	-	6	966	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E323K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	323					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.E323K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATTGTTTTTCGCTGTCCTTT	0.383000													11	80					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36205107	36205107	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36205107T>C	ENST00000251195.5	-	19	3263	c.3167A>G	c.(3166-3168)gAt>gGt	p.D1056G	CLSPN_ENST00000373220.3_Missense_Mutation_p.D992G|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Missense_Mutation_p.D1003G|CLSPN_ENST00000318121.3_Missense_Mutation_p.D1056G			Q9HAW4	CLSPN_HUMAN	claspin	1056					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCTGCCTCATCCTCCAGGTA	0.398000													15	48					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392458	74392458	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74392458G>A	ENST00000319380.7	-	14	2624	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	854							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCATCCAGAAACTTCTTC	0.552000													11	151					0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2035946	2035946	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2035946C>A	ENST00000248114.6	+	3	541	c.535C>A	c.(535-537)Cgc>Agc	p.R179S	GFER_ENST00000569451.1_3'UTR|GFER_ENST00000567719.1_Missense_Mutation_p.R104S|AC005606.14_ENST00000564438.1_lincRNA	NM_005262.2	NP_005253.3	P55789	ALR_HUMAN	growth factor, augmenter of liver regeneration	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						TGAAGTGAACCGCAAGCTGGG	0.602000													6	67					0.00198382	0.00200317	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3396452	3396452	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3396452G>C	ENST00000378378.4	+	14	2370	c.1965G>C	c.(1963-1965)gtG>gtC	p.V655V	ARHGEF16_ENST00000378371.2_Silent_p.V367V|ARHGEF16_ENST00000378373.1_Silent_p.V367V|ARHGEF16_ENST00000413250.2_Silent_p.V359V	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	655	SH3.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGGCGGACGTGGTCCTGGTTC	0.642000													6	67					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960190	50960190	+	Missense_Mutation	SNP	G	G	A	rs150734131	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50960190G>A	ENST00000374103.4	-	5	668	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OGDHL_ENST00000419399.1_Missense_Mutation_p.R138W|OGDHL_ENST00000432695.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	195					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						TCCAGGCGCCGAATGATCTCC	0.562000													7	61					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21762904	21762904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21762904C>T	ENST00000206660.6	+	2	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.R52*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.R52*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.R52*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	52					response to stimulus|visual perception	cilium		p.R52*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGTTTCTTTCGACTTCGCGA	0.393000													5	44					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082516	62082516	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62082516G>A	ENST00000412356.1	-	4	633	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ICAM2_ENST00000418105.1_Silent_p.F93F|ICAM2_ENST00000579788.1_Silent_p.F93F|ICAM2_ENST00000579687.1_Silent_p.F93F|ICAM2_ENST00000578892.1_Silent_p.F69F|ICAM2_ENST00000578379.1_5'UTR|ICAM2_ENST00000449662.2_Silent_p.F93F|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	93	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGGAGCAGGTGAAGTGGCATT	0.552000													5	49					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653263	1653263	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:1653263G>A	ENST00000252804.4	-	17	2339	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	763					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCAGGCGCTCGAAGGCGGTCA	0.632000													15	124					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121773727	121773727	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:121773727C>T	ENST00000393376.1	-	1	149	c.54G>A	c.(52-54)aaG>aaA	p.K18K	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.K18K			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	18					protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGTGAAGACCCTTGGAGAGGC	0.557000													15	70					0	0	1	0	0
SYTL4	94121	broad.mit.edu	37	X	99955944	99955944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:99955944C>T	ENST00000372981.1	-	5	674	c.488G>A	c.(487-489)gGt>gAt	p.G163D	SYTL4_ENST00000372989.1_Missense_Mutation_p.G163D|SYTL4_ENST00000454200.2_Missense_Mutation_p.G163D|SYTL4_ENST00000455616.1_Missense_Mutation_p.G163D|SYTL4_ENST00000263033.5_Missense_Mutation_p.G163D|SYTL4_ENST00000276141.6_Missense_Mutation_p.G163D			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	163					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGATGTCACCCATCTGTGT	0.438000													19	61					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169699608	169699608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169699608G>A	ENST00000333360.7	-	5	819	c.680C>T	c.(679-681)tCt>tTt	p.S227F	SELE_ENST00000367776.1_Missense_Mutation_p.S227F|SELE_ENST00000367774.1_Missense_Mutation_p.S227F|SELE_ENST00000367779.4_Missense_Mutation_p.S227F|SELE_ENST00000367777.1_Missense_Mutation_p.S227F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S227F|SELE_ENST00000367782.4_Missense_Mutation_p.S227F|SELE_ENST00000367780.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	227	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCATTCTCCAGAGGACATACA	0.473000													8	29					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756955	57756955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57756955G>A	ENST00000360716.3	+	12	1671	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E419K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E484K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	484						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCAGAACCGGGAAGACATGCT	0.582000													10	115					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412276	154412276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:154412276G>A	ENST00000414028.2	+	3	883	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	OPRM1_ENST00000428397.2_Missense_Mutation_p.R278Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R278Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R278Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R371Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R278Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R278Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R197Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R278Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R178Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R178Q|OPRM1_ENST00000419506.2_Missense_Mutation_p.R278Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R278Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R178Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R278Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	278					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R278Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AGGAATCTTCGAAGGATCACC	0.498000													8	39					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657514	72657514	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657514C>T	ENST00000425256.1	-	0	2397					NR_002164.1																						cgtatttcgtcttcaggaccg	0.502000													22	199					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969327	22969327	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:22969327C>T	ENST00000313077.7	+	22	2678	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	CYFIP1_ENST00000560848.1_Silent_p.F851F|CYFIP1_ENST00000435939.2_Silent_p.F420F	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	851					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ACTATGACTTCCTGCCCAACT	0.642000													17	79					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55044985	55044985	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55044985G>A	ENST00000335056.3	+	3	143	c.105G>A	c.(103-105)ccG>ccA	p.P35P																	endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CAGCCTGGCCGAGCCCTGTGG	0.572000													5	45					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91492652	91492652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91492652C>T	ENST00000394275.2	+	17	2775	c.1940C>T	c.(1939-1941)tCc>tTc	p.S647F	UNC45A_ENST00000418476.2_Missense_Mutation_p.S662F	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	662					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTGACCAGTTCCTGCAGAGAG	0.627000													14	231					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974046	49974046	+	Silent	SNP	C	C	T	rs146933611	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:49974046C>T	ENST00000555099.1	+	1	104	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAGAAAATCATATTTGTTG	0.388000													5	30					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17086957	17086957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17086957G>A	ENST00000443236.1	-	16	1935	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	588						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ATACGTCACTGAAACCTTGGC	0.562000													9	36					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71265942	71265942	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:71265942C>T	ENST00000373290.2	+	7	803	c.681C>T	c.(679-681)ttC>ttT	p.F227F	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	227						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCATCTGGTTCATGGACAACT	0.592000													5	56					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080094	23080094	+	Missense_Mutation	SNP	G	G	A	rs143964057	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23080094G>A	ENST00000219689.7	-	16	3331	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	USP31_ENST00000567975.1_Missense_Mutation_p.S404L	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1111	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTTCTGTGGCGAAGGAGATGA	0.587000													8	148					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187047	62187047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62187047G>A	ENST00000370098.3	+	2	123	c.31G>A	c.(31-33)Gac>Aac	p.D11N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D11N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	11										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTGGGCCTGGACAAGATGAA	0.652000													5	25					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131641443	131641443	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131641443C>T	ENST00000368648.3	-	12	1197	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	EBF3_ENST00000355311.5_Silent_p.A384A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	384					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCACCAGGTCCGCCGCCCGCT	0.602000													4	16					0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18193024	18193024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18193024G>A	ENST00000600835.1	-	4	478	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	IL12RB1_ENST00000430026.2_Missense_Mutation_p.R59C|IL12RB1_ENST00000322153.6_Missense_Mutation_p.R59C|IL12RB1_ENST00000593993.1_Missense_Mutation_p.R59C			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	59	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CACTCGTAACGATCACTGGAT	0.592000													4	22					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105920818	105920818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105920818C>T	ENST00000357060.3	-	27	3632	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1174K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1173										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						TCTCTTTCTTCATTTAACTCC	0.318000													4	14					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19335124	19335124	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19335124C>T	ENST00000252575.5	+	5	703	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	220	Link 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGTATCCTATCACCCAGTCCC	0.577000													34	101					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149901678	149901678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149901678G>A	ENST00000439741.2	-	16	2028	c.1778C>T	c.(1777-1779)cCt>cTt	p.P593L	MTMR11_ENST00000369140.3_Missense_Mutation_p.P521L|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	593	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGCAGGTCGAGGGAGCCAACG	0.597000													5	58					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90124822	90124822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:90124822C>T	ENST00000449207.2	-	10	1373	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	PRDM7_ENST00000407825.1_Silent_p.K151K|PRDM7_ENST00000325921.6_Silent_p.K151K	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	452						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAGAAGTTTTCTTGCAGATGG	0.478000													5	76					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64966150	64966150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64966150G>A	ENST00000326648.3	+	4	1225	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	366						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGAAATGCGCAATGGCCGG	0.483000													5	89					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33638591	33638591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33638591G>A	ENST00000361680.2	+	4	595	c.517G>A	c.(517-519)Gac>Aac	p.D173N	WDR88_ENST00000592765.1_3'UTR|WDR88_ENST00000355868.3_Missense_Mutation_p.D173N			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	173										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GAGGGCCTGGGACCTGGAGAC	0.537000													5	41					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77893556	77893556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:77893556C>T	ENST00000262198.4	+	4	715	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	87					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGCTTACTTCATTCAAGAAT	0.378000													5	51					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7630451	7630451	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7630451C>T	ENST00000572933.1	+	4	1700	c.240C>T	c.(238-240)ttC>ttT	p.F80F	DNAH2_ENST00000082259.3_Silent_p.F80F|DNAH2_ENST00000389173.2_Silent_p.F80F|DNAH2_ENST00000570791.1_Silent_p.F80F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	80	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCCCTCTTCCTTTCCCGAG	0.542000													5	54					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75186374	75186374	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75186374G>A	ENST00000299432.2	-	4	558	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	MSS51_ENST00000372912.1_Silent_p.L165L	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	165							zinc ion binding										CCTGTGACCAGAAGCCATTCC	0.463000													10	142					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478095	79478095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79478095G>A	ENST00000575842.1	-	4	1268	c.842C>T	c.(841-843)tCc>tTc	p.S281F	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.S281F|ACTG1_ENST00000331925.2_Missense_Mutation_p.S281F|ACTG1_ENST00000573283.1_Missense_Mutation_p.S281F			P63261	ACTG_HUMAN	actin, gamma 1	281					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTCATGATGGAGTTGAAGGT	0.562000													35	88					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37514927	37514927	+	Silent	SNP	G	G	A	rs5848002		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37514927G>A	ENST00000264741.5	+	3	652	c.396G>A	c.(394-396)caG>caA	p.Q132Q	ITGA9_ENST00000422441.1_Silent_p.Q132Q	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	132					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGCCCGACAGCCCAAGGCTG	0.602000													5	37					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698195	168698195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168698195C>T	ENST00000367817.3	-	1	307	c.218G>A	c.(217-219)tGg>tAg	p.W73*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	73	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCGTAGTTCCATTGTCTGTC	0.582000													6	111					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026844	36026844	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36026844C>T	ENST00000373243.2	+	3	1475	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	NCDN_ENST00000356090.4_Silent_p.L364L|NCDN_ENST00000373253.3_Silent_p.L347L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	364					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTGCAGCTCGTGAGCGTCA	0.597000													4	55					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231157414	231157414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231157414G>A	ENST00000392045.3	+	20	1993	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	SP140_ENST00000420434.3_Missense_Mutation_p.E600K|SP140_ENST00000486687.2_Missense_Mutation_p.E551K|SP140_ENST00000417495.3_Missense_Mutation_p.E513K|SP140_ENST00000350136.5_Missense_Mutation_p.E496K|SP140_ENST00000343805.6_Missense_Mutation_p.E567K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	627	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACCCCCACGGAATTTGAAAT	0.507000													21	99					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921218	60921218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60921218G>A	ENST00000252999.3	-	10	1402	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	LAMA5_ENST00000370677.3_Nonsense_Mutation_p.R446*|LAMA5_ENST00000370692.3_Nonsense_Mutation_p.R446*	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	446	Laminin EGF-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTAGCATCGACCCGTCAGG	0.657000													6	31					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168014372	168014372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168014372C>T	ENST00000367840.3	+	16	2259	c.2165C>T	c.(2164-2166)tCc>tTc	p.S722F	DCAF6_ENST00000312263.6_Missense_Mutation_p.S645F|DCAF6_ENST00000367843.3_Missense_Mutation_p.S665F|DCAF6_ENST00000432587.2_Missense_Mutation_p.S691F	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	645					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GAAGAAACATCCACCAGGGAC	0.502000													5	16					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58253006	58253006	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:58253006G>A	ENST00000249750.4	-	12	2213	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	ALDH1A2_ENST00000558231.1_Silent_p.P453P|ALDH1A2_ENST00000537372.1_Silent_p.P461P|ALDH1A2_ENST00000559517.1_Silent_p.P386P|ALDH1A2_ENST00000347587.3_Silent_p.P444P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	482					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATCCCCCAAAGGGGCTCTGGG	0.423000													3	22					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62229133	62229133	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62229133G>A	ENST00000266068.1	-	4	916	c.438C>T	c.(436-438)atC>atT	p.I146I	GMEB2_ENST00000370077.1_Silent_p.I146I|GMEB2_ENST00000370069.1_Silent_p.I95I			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	146	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGTTCATGCGGATGGCTCTCT	0.592000													7	31					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70931508	70931508	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70931508C>T	ENST00000264436.3	-	4	711	c.267G>A	c.(265-267)caG>caA	p.Q89Q	ADD2_ENST00000407644.2_Silent_p.Q89Q|ADD2_ENST00000355733.3_Silent_p.Q89Q|ADD2_ENST00000430656.1_Silent_p.Q105Q|ADD2_ENST00000413157.2_Silent_p.Q89Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	89					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGTCCGCGATCTGTCGCAGGG	0.602000													27	92					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12962040	12962040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:12962040G>A	ENST00000273221.4	-	6	2168	c.1952C>T	c.(1951-1953)aCc>aTc	p.T651I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	651	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGAAAATGGTGTCTGGGTT	0.597000													9	86					0	0	1	0	0
RAD1	5810	broad.mit.edu	37	5	34909028	34909028	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:34909028A>T	ENST00000382038.2	-	6	2110	c.691T>A	c.(691-693)Tct>Act	p.S231T	RAD1_ENST00000341754.4_Missense_Mutation_p.S231T	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	231					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GCCTTTGTAGAGGGTTTCAGT	0.348000								Other conserved DNA damage response genes					9	77					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80963040	80963040	+	Missense_Mutation	SNP	C	C	T	rs142855993	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80963040C>T	ENST00000576599.1	-	6	872	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.R152Q|B3GNTL1_ENST00000571954.1_5'UTR			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	152							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACGTGTGTATCGTTCGGTGGA	0.572000													17	145					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468508	56468508	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:56468508T>G	ENST00000288221.6	-	2	783	c.528A>C	c.(526-528)ggA>ggC	p.G176G		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	176						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATGGAAGATCCCAATTTGC	0.483000													16	119					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695054	247695054	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247695054C>A	ENST00000366487.3	-	2	1121	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGATGCTCCCGTAAAACAGA	0.542000													4	72					1	1	1	1	0
ZNF280A	129025	broad.mit.edu	37	22	22869805	22869805	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22869805C>T	ENST00000302097.3	-	2	402	c.150G>A	c.(148-150)ggG>ggA	p.G50G		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAAATCATCCCGACAAAGA	0.428000													14	63					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365616	46365616	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:46365616G>A	ENST00000359930.4	-	3	1097	c.246C>T	c.(244-246)ttC>ttT	p.F82F	SULF2_ENST00000484875.1_Silent_p.F82F|SULF2_ENST00000361612.4_Silent_p.F82F|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000467815.1_Silent_p.F82F	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	82					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGTGGTCACGAAGGCGTTGA	0.582000													10	44					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289032	125289032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125289032G>A	ENST00000304880.2	-	1	540	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTCAGGACAGGAGTGATGTCA	0.493000													5	17					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877477	125877477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:125877477C>T	ENST00000393434.2	-	3	482	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E55K|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E45K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E45K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E45K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	45	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTCAGCTTCCAGACCTGTG	0.572000													11	43					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150839663	150839663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150839663C>T	ENST00000370357.4	+	12	1470	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	409						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGATCACCTTCAGGTCAG	0.463000													13	29					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189035	103189035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:103189035C>T	ENST00000424970.2	-	7	1357	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	SLC39A8_ENST00000394833.2_Missense_Mutation_p.E348K|SLC39A8_ENST00000356736.4_Missense_Mutation_p.E348K	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	348						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TTACCTAACTCGTGGGGAAAC	0.448000													4	12					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517864	1517864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1517864C>T	ENST00000381623.3	-	3	1703	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SIRPD_ENST00000381621.1_Missense_Mutation_p.E173K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	172						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTTTCTCTCAGGCAGGGCC	0.602000													7	73					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279355	73279355	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:73279355C>T	ENST00000320531.2	+	2	141	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	35						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCTATAATTTCCTGCTCCTCA	0.567000													33	356					0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4154994	4154994	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4154994G>A	ENST00000078445.2	+	2	273	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CREB3L3_ENST00000602257.1_Silent_p.L42L|CREB3L3_ENST00000252587.3_Silent_p.L33L|CREB3L3_ENST00000595923.1_Silent_p.L42L|CREB3L3_ENST00000602147.1_Silent_p.L42L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	42					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGGAGCTGGGCGAGGGCT	0.637000													8	124					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481001	43481001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:43481001G>A	ENST00000532038.1	-	7	1091	c.956C>T	c.(955-957)tCg>tTg	p.S319L	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.S173L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.S200L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.S200L|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.S514L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.S541L|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.S519L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	541	WW 2.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCCTGCAGCCGAGGTCTTTGA	0.542000													7	57					0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233349775	233349775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:233349775C>T	ENST00000304546.1	-	4	1092	c.882G>A	c.(880-882)atG>atA	p.M294I	ECEL1_ENST00000409941.1_Missense_Mutation_p.M294I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	294					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCACTCGCTCCATGAACACCC	0.647000													7	34					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445407	85445407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:85445407G>A	ENST00000316356.4	-	7	1529	c.965C>T	c.(964-966)tCt>tTt	p.S322F	SYTL2_ENST00000527523.1_Missense_Mutation_p.S273F|SYTL2_ENST00000389960.4_Missense_Mutation_p.S321F|SYTL2_ENST00000524452.1_Missense_Mutation_p.S321F|SYTL2_ENST00000528231.1_Missense_Mutation_p.S321F			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	321					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GTTTGGGGAAGAGTTGTCTTC	0.453000													6	87					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138429969	138429969	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138429969G>A	ENST00000310018.2	-	14	1659	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	ATP6V0A4_ENST00000353492.4_Silent_p.S459S|ATP6V0A4_ENST00000393054.1_Silent_p.S459S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	459					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCGTGTAGATGGAGAAGATGC	0.488000													19	62					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082306	12082306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12082306C>T	ENST00000235332.4	+	3	438	c.269C>T	c.(268-270)tCg>tTg	p.S90L	MIIP_ENST00000436478.2_Missense_Mutation_p.S90L|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	90										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGGCCAGATCGGGGGTGGCC	0.677000													13	81					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224648	3224648	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:3224648C>T	ENST00000602557.1	-	21	3579	c.3024G>A	c.(3022-3024)acG>acA	p.T1008T	CSMD1_ENST00000602723.1_Silent_p.T1008T|CSMD1_ENST00000520002.1_Silent_p.T1008T|CSMD1_ENST00000400186.3_Silent_p.T1008T|CSMD1_ENST00000537824.1_Silent_p.T1007T|CSMD1_ENST00000539096.1_Silent_p.T1007T|CSMD1_ENST00000542608.1_Silent_p.T1007T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1008	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGCCTTGATCGTATGAGGCA	0.478000													4	8					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31733779	31733779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31733779C>T	ENST00000375686.3	-	16	2617	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N	VWA7_ENST00000375688.4_Missense_Mutation_p.D794N	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	794						extracellular region											GCCGCTGAATCTGGGACCTCC	0.627000													24	299					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172518	7172518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7172518G>A	ENST00000406697.1	+	9	1260	c.632G>A	c.(631-633)gGg>gAg	p.G211E	C1S_ENST00000360817.5_Missense_Mutation_p.G211E|C1S_ENST00000328916.3_Missense_Mutation_p.G211E|C1S_ENST00000402681.3_Missense_Mutation_p.G44E			P09871	C1S_HUMAN	complement component 1, s subcomponent	211	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGAGAAAGGGTTCCAAGTG	0.478000													15	109					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426916	204426916	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204426916G>A	ENST00000367187.3	-	10	2209	c.1653C>T	c.(1651-1653)atC>atT	p.I551I	PIK3C2B_ENST00000424712.2_Silent_p.I551I	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	551					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCACTGGTGATCTCAGGGG	0.622000													4	28					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872832	136872832	+	Silent	SNP	G	G	A	rs144569657		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136872832G>A	ENST00000409817.1	-	1	981	c.678C>T	c.(676-678)atC>atT	p.I226I	CXCR4_ENST00000241393.3_Silent_p.I222I|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	222					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCTTGGAGATGATAATGCAAT	0.517000													5	74					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778717	110778717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:110778717C>T	ENST00000395494.2	+	13	2497	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V	ATP2A2_ENST00000539276.2_Missense_Mutation_p.A672V|ATP2A2_ENST00000308664.6_Missense_Mutation_p.A672V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	672					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCCTGAACGCCCGCTGTTTT	0.507000													4	31					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241659326	241659326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241659326G>A	ENST00000498729.2	-	46	5132	c.4886C>T	c.(4885-4887)tCc>tTc	p.S1629F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1528F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1528	PH.				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)		GGCTGGCCGGGAGCAGGGCTG	0.701000													17	70					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11333707	11333707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11333707C>T	ENST00000294618.7	-	25	3042	c.3031G>A	c.(3031-3033)Ggc>Agc	p.G1011S	DOCK6_ENST00000319867.7_Missense_Mutation_p.G350S	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1011					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AAGACAAAGCCCCGGTCCACC	0.622000													5	59					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22089560	22089560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:22089560C>T	ENST00000261200.4	-	1	48	c.49G>A	c.(49-51)Gat>Aat	p.D17N	ABCC9_ENST00000538350.1_Missense_Mutation_p.D17N|ABCC9_ENST00000326684.4_Missense_Mutation_p.D17N|ABCC9_ENST00000261201.4_Missense_Mutation_p.D17N|ABCC9_ENST00000345162.2_Missense_Mutation_p.D17N	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	17					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTACACCATCGTTGATATTA	0.343000													6	24					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779910	36779910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779910C>T	ENST00000416516.2	-	2	731	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	81						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAAGCTCCTCGGGGATCTTC	0.607000													7	162					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878238	2878238	+	Missense_Mutation	SNP	G	G	A	rs35494032	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878238G>A	ENST00000586426.1	+	4	1366	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	ZNF556_ENST00000307635.2_Missense_Mutation_p.E428K			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTAAATGCGAAAAATGTGG	0.448000													30	109					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76570810	76570810	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76570810G>A	ENST00000389840.5	-	2	454	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH17_ENST00000585328.1_Silent_p.I110I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCACCACCGCGATCAGCTGGT	0.607000													5	116					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7752119	7752119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7752119C>T	ENST00000254846.5	+	11	2902	c.2513C>T	c.(2512-2514)tCc>tTc	p.S838F	KDM6B_ENST00000448097.2_Missense_Mutation_p.S838F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	838	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACTCAGTATTCCCCTGGCCCC	0.647000													9	91					0	0	1	0	0
OR1A2	26189	broad.mit.edu	37	17	3100883	3100883	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3100883A>G	ENST00000381951.1	+	1	71	c.71A>G	c.(70-72)aAt>aGt	p.N24S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CAAGAACAGAATAATGTCTTC	0.413000													4	64					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773203	60773203	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:60773203G>A	ENST00000335712.6	-	2	515	c.288C>T	c.(286-288)tcC>tcT	p.S96S	BCL11A_ENST00000356842.4_Silent_p.S96S|BCL11A_ENST00000358510.4_Silent_p.S96S|BCL11A_ENST00000359629.5_Silent_p.S96S|BCL11A_ENST00000538214.1_Silent_p.S96S|BCL11A_ENST00000537768.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	96	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCACGGGATTGGATGCTTTTT	0.473000			T	IGH@	B-CLL								214	417					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523182	71523182	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:71523182A>G	ENST00000393330.2	-	11	1141	c.589T>C	c.(589-591)Ttc>Ctc	p.F197L	TSPAN8_ENST00000552128.1_Missense_Mutation_p.F114L|TSPAN8_ENST00000546561.1_Missense_Mutation_p.F197L|TSPAN8_ENST00000247829.3_Missense_Mutation_p.F197L			P19075	TSN8_HUMAN	tetraspanin 8	197					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCTTTTATGAAAGAAATACAG	0.259000													5	52					0	0	1	0	0
ARSD	414	broad.mit.edu	37	X	2838653	2838653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2838653G>A	ENST00000381154.1	-	4	503	c.428C>T	c.(427-429)aCc>aTc	p.T143I	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	143						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TATGAGGCCGGTTGCATAGCC	0.537000													13	28					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2816862	2816862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2816862G>A	ENST00000360652.2	-	7	1442	c.940C>T	c.(940-942)Cca>Tca	p.P314S	PCED1A_ENST00000356872.3_Missense_Mutation_p.P263S	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		gaagaaggtgggggtgggagc	0.602000													5	94					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580448	7580448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7580448G>A	ENST00000379802.3	+	23	4366	c.4025G>A	c.(4024-4026)tGg>tAg	p.W1342*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1342	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCGCCGCTGGGAATATGAA	0.448000													5	48					0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9165602	9165602	+	Silent	SNP	G	G	A	rs147122688	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9165602G>A	ENST00000377411.4	-	3	877	c.735C>T	c.(733-735)ttC>ttT	p.F245F	GPR157_ENST00000414642.2_Intron	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	245						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GGGTCAGCACGAACCGCACGG	0.667000													6	23					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179730620C>T	ENST00000420890.2	-	17	2715	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CCDC141_ENST00000295723.5_Silent_p.K291K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478000													11	72					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142625246	142625246	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142625246C>T	ENST00000265310.1	-	7	1194	c.846G>A	c.(844-846)gaG>gaA	p.E282E	TRPV5_ENST00000442623.1_Silent_p.E282E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	282					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AGGAGTCGATCTCTGTGAGGT	0.557000													8	48					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70964488	70964488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70964488C>T	ENST00000276594.2	-	8	1741	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGGGCTTCTCCCCGGAGTGC	0.512000													21	97					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149419	41149419	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:41149419C>T	ENST00000263413.3	-	17	2811	c.2547G>A	c.(2545-2547)agG>agA	p.R849R	C6_ENST00000337836.5_Silent_p.R849R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	849	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R849R(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGTCTTGTCCTTTCAAGAC	0.418000													4	9					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404816	72404816	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72404816G>A	ENST00000359373.5	-	28	4580	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	ARAP1_ENST00000455638.2_Silent_p.P1243P|ARAP1_ENST00000393609.3_Silent_p.P1243P|ARAP1_ENST00000334211.8_Silent_p.P998P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Silent_p.P998P|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000429686.1_Silent_p.P937P|ARAP1_ENST00000393605.3_Silent_p.P1003P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1243	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CGTGCAGGATGGGCAGCACCT	0.642000													9	49					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498562	123498562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:123498562C>T	ENST00000280562.5	-	3	311	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	PITPNM2_ENST00000542749.1_Missense_Mutation_p.E36K|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E36K|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E36K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E36K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	36					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGCTGCCTTCGCCATATGTC	0.582000													6	82					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27459905	27459905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:27459905G>A	ENST00000337929.3	+	9	1391	c.918G>A	c.(916-918)tgG>tgA	p.W306*	IL21R_ENST00000395754.4_Nonsense_Mutation_p.W306*|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Nonsense_Mutation_p.W306*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W306*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	306					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.W306C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGGACCCTGGAGCCCAGAGG	0.607000			T	BCL6	NHL								5	19					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720092	146720092	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:146720092C>T	ENST00000392299.2	+	8	2387	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_ENST00000507907.1_Silent_p.F639F|GRM1_ENST00000282753.1_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F|GRM1_ENST00000355289.4_Silent_p.F639F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	639					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGCATCTTCCTTGGTTATG	0.517000													6	110					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187531066	187531066	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187531066G>A	ENST00000441802.2	-	15	10166	c.9957C>T	c.(9955-9957)gcC>gcT	p.A3319A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3319	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGTTCACAGTGGCAACGTCGC	0.458000										HNSCC(5;0.00058)			5	28					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59157822	59157822	+	Silent	SNP	C	C	T	rs147796041	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59157822C>T	ENST00000262717.4	+	2	434	c.36C>T	c.(34-36)aaC>aaT	p.N12N	CDH20_ENST00000536675.2_Silent_p.N12N|CDH20_ENST00000538374.1_Silent_p.N12N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ATGCAAAGAACTGGCTTGGAC	0.468000													6	72					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82033635	82033635	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82033635A>C	ENST00000372213.3	-	9	1350	c.1090T>G	c.(1090-1092)Ttg>Gtg	p.L364V	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	364					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTCAAGTCCAAATCCCTGCAT	0.498000													9	89					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350159	89350159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89350159G>A	ENST00000301030.4	-	9	3251	c.2791C>T	c.(2791-2793)Cct>Tct	p.P931S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P931S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	931	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGGTAGCCAGGGACACTTTTA	0.542000													7	134					0	0	1	0	0
PPP1R1B	84152	broad.mit.edu	37	17	37786251	37786251	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:37786251C>T	ENST00000254079.4	+	4	661	c.192C>T	c.(190-192)ctC>ctT	p.L64L	PPP1R1B_ENST00000579000.1_Intron|PPP1R1B_ENST00000394267.2_Silent_p.L28L|PPP1R1B_ENST00000394265.1_Silent_p.L28L|PPP1R1B_ENST00000580825.1_Silent_p.L64L	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	64					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCACCATCTCAAGTCGAAGA	0.597000													7	37					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109768430	109768430	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:109768430G>A	ENST00000368952.4	-	17	2420	c.2130C>T	c.(2128-2130)gcC>gcT	p.A710A	MICAL1_ENST00000358807.3_Silent_p.A691A|MICAL1_ENST00000358577.3_Silent_p.A605A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	691	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCCCAGCACCGGCCTGCGTGG	0.642000													5	68					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2833937	2833937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2833937C>T	ENST00000317243.5	+	5	902	c.704C>T	c.(703-705)tCa>tTa	p.S235L	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTTTTATCACAGGGAAGC	0.488000													19	88					0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9640052	9640052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9640052C>T	ENST00000302692.6	+	6	733	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	175					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CCAGTGTGCTCGTTACGTTTA	0.438000													4	48					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13056459	13056459	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:13056459C>T	ENST00000506447.1	+	19	3950	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	CEP192_ENST00000430049.2_Silent_p.F815F|CEP192_ENST00000325971.8_Silent_p.F694F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	885										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTGTGGCTTCTCAGGAGGCC	0.547000													7	30					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38996016	38996016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38996016C>T	ENST00000355481.4	+	53	8509	c.8378C>T	c.(8377-8379)cCc>cTc	p.P2793L	RYR1_ENST00000359596.3_Missense_Mutation_p.P2793L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2793L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2793	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATGCTGAGGCCCTACAAGACC	0.552000													3	19					0	0	1	0	0
GM2A	2760	broad.mit.edu	37	5	150646433	150646433	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150646433C>T	ENST00000357164.3	+	3	710	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	129						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGAGCCCCTGCGTACCTA	0.512000													17	63					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107436862	107436862	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107436862G>A	ENST00000334504.7	-	17	1301	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	COL4A6_ENST00000538570.1_Silent_p.I356I|COL4A6_ENST00000545689.1_Silent_p.I356I|COL4A6_ENST00000394872.2_Silent_p.I357I|COL4A6_ENST00000372216.4_Silent_p.I357I	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	357	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGCACCTGAGATCACAGCAC	0.368000									Alport syndrome with Diffuse Leiomyomatosis				4	34					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182872245	182872245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:182872245C>T	ENST00000367547.3	-	9	1875	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E428K|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	619										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGATGAATTTCATTTCTTTCC	0.333000													13	87					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5541075	5541075	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:5541075C>T	ENST00000382368.3	-	3	948	c.825G>A	c.(823-825)gaG>gaA	p.E275E	FBXL18_ENST00000453700.3_Silent_p.E275E	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	275									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCGCCGCTCTCCGCGAAGC	0.642000													5	36					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40883678	40883678	+	Silent	SNP	G	G	A	rs34106220		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40883678G>A	ENST00000333634.4	+	6	774	c.696G>A	c.(694-696)gaG>gaA	p.E232E	SH3BGR_ENST00000380637.3_Silent_p.E121E|SH3BGR_ENST00000380634.1_Silent_p.E121E|SH3BGR_ENST00000380631.1_Silent_p.E121E|SH3BGR_ENST00000458295.1_Silent_p.E90E	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	232	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGAGAAGAGCCTGGAGAAG	0.463000													20	59					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251220	99251220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:99251220C>T	ENST00000268035.6	+	2	1135	c.524C>T	c.(523-525)cCa>cTa	p.P175L	IGF1R_ENST00000558762.1_Missense_Mutation_p.P175L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	175					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P175Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AATAAGCCCCCAAAGGAATGT	0.517000													10	106					0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42448644	42448644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42448644C>T	ENST00000287748.3	-	2	375	c.100G>A	c.(100-102)Gga>Aga	p.G34R	LYZL4_ENST00000441172.1_Missense_Mutation_p.G34R|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	34					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCAGGCCTCCATCGTGGAGT	0.547000													6	42					0	0	1	0	0
DEFB132	400830	broad.mit.edu	37	20	239757	239757	+	Missense_Mutation	SNP	G	G	A	rs145729689	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:239757G>A	ENST00000382376.3	+	2	141	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	33					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						AACACCCCAGGATACTGCAGG	0.522000													11	34					0	0	1	0	0
PPP1R1A	5502	broad.mit.edu	37	12	54976536	54976536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:54976536C>T	ENST00000257905.8	-	4	397	c.227G>A	c.(226-228)aGg>aAg	p.R76K	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732.3	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	76					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						GGGTGTGATCCTTGTCATCTT	0.562000													4	83					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182870195	182870195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:182870195G>A	ENST00000265598.3	-	3	1111	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	LAMP3_ENST00000466939.1_Nonsense_Mutation_p.Q262*	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	286					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AATCCGCCCTGAAAATTCAAC	0.502000													12	150					0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091297	30091297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:30091297G>A	ENST00000380752.5	-	11	2047	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	554					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGAGCTTGGTCTTGCTCTC	0.642000													4	15					0	0	1	0	0
TUSC5	286753	broad.mit.edu	37	17	1183455	1183455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1183455G>A	ENST00000333813.3	+	1	499	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	54					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTGGATCTGGAGCAGAACAG	0.637000													6	68					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124331842	124331842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124331842C>T	ENST00000368909.3	+	5	306	c.200C>T	c.(199-201)tCc>tTc	p.S67F	DMBT1_ENST00000359586.6_Missense_Mutation_p.S67F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S67F|DMBT1_ENST00000368955.3_Missense_Mutation_p.S67F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S67F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S67F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S67F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	67					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTCCGATTTCCTTGGAGTCA	0.522000													11	88					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296644	9296644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9296644C>T	ENST00000344248.2	+	1	366	c.187C>T	c.(187-189)Ctc>Ttc	p.L63F		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	63					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACTTCTTCCTCTCCAACCT	0.542000													15	58					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970426	118970426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:118970426G>A	ENST00000515256.1	+	3	1155	c.983G>A	c.(982-984)aGg>aAg	p.R328K				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CCAAAGGACAGGAAGTGAGCA	0.557000													9	29					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129246117	129246117	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:129246117G>A	ENST00000281437.4	+	1	283	c.187_splice	c.e1+1	p.G63_splice		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	63										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TTCCTGTACGGGTAAGACGCT	0.572000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	135					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14057532	14057532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:14057532C>T	ENST00000235372.7	+	3	903	c.47C>T	c.(46-48)gCt>gTt	p.A16V	PRDM2_ENST00000376048.5_Missense_Mutation_p.A16V|PRDM2_ENST00000311066.5_Missense_Mutation_p.A16V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	16						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGACCCTGGCTGAGGTACCC	0.512000													6	80					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71726466	71726466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71726466G>A	ENST00000393695.3	-	15	2414	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q695*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	695					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCCTTCTCCTGGGCCACCCTT	0.597000			T	RARA	APL								4	94					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542656	187542656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187542656G>A	ENST00000441802.2	-	10	5293	c.5084C>T	c.(5083-5085)tCa>tTa	p.S1695L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1695	Cadherin 15.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACCACTGATGATTGACTATG	0.388000										HNSCC(5;0.00058)			9	56					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31200472	31200472	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31200472C>T	ENST00000254108.7	+	9	966	c.861C>T	c.(859-861)atC>atT	p.I287I	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.I286I|FUS_ENST00000568685.1_Silent_p.I288I	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	287	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ACAACACCATCTTTGTGCAAG	0.393000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								14	99					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003912	228003912	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228003912C>T	ENST00000366757.3	+	2	294	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTCCATCCTCAATGAGTACT	0.667000													11	94					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40349011	40349011	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40349011G>A	ENST00000316891.5	-	1	167	c.153C>T	c.(151-153)atC>atT	p.I51I	TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000372818.1_Silent_p.I51I|TRIT1_ENST00000441669.2_Silent_p.I51I|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000537223.1_5'UTR|TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000544981.1_Silent_p.I51I|TRIT1_ENST00000545233.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	51					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGCGCTGACGATCTCACCGC	0.667000													3	13					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779857	36779857	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779857C>T	ENST00000416516.2	-	2	784	c.294G>A	c.(292-294)ggG>ggA	p.G98G		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	98						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GCTCCCATTTCCCCCTCCCCC	0.577000													18	139					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163811	161163811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161163811G>A	ENST00000367996.4	-	5	1890	c.1462C>T	c.(1462-1464)Ccc>Tcc	p.P488S		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	488	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCGGCCCAGGGCGAGTGTTTG	0.657000													10	64					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798170	21798170	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21798170C>T	ENST00000318220.6	+	8	1435	c.387C>T	c.(385-387)gcC>gcT	p.A129A	NBPF3_ENST00000342104.5_Silent_p.A185A|NBPF3_ENST00000318249.5_Silent_p.A185A|NBPF3_ENST00000454000.2_Silent_p.A115A			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	185						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTCCAGGCCCTCCTCACTC	0.577000													6	127					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31378687C>T	ENST00000297142.3	-	2	518	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	66					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tcttcctcttccctgtcttcc	0.468000													14	94					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097283	220097283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220097283C>T	ENST00000323348.5	+	5	610	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ANKZF1_ENST00000409849.1_5'UTR|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R146W	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	146						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)		GACACTGGATCGGGAGAGGGC	0.507000													10	63					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19387762	19387762	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19387762G>A	ENST00000247001.5	-	13	2252	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	635					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GTACCAGGGGGTTGGGCCGGA	0.632000													6	88					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393715	48393715	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48393715G>A	ENST00000380518.3	-	2	443	c.279C>T	c.(277-279)ctC>ctT	p.L93L	COL2A1_ENST00000337299.6_Intron	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	93					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.L93L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCAGTGGCGAGGTCAGTTG	0.498000													9	73					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307582	56307582	+	Missense_Mutation	SNP	C	C	T	rs116279591	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56307582C>T	ENST00000443188.1	-	8	2916	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	NLRP11_ENST00000589093.1_Missense_Mutation_p.E736K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E682K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E682K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E637K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	736							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCGATTTCTTCACATTCGCTG	0.463000													9	60					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69040512	69040512	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69040512C>T	ENST00000295381.3	+	6	1184	c.765C>T	c.(763-765)ttC>ttT	p.F255F	ARHGAP25_ENST00000544262.1_Silent_p.F230F|ARHGAP25_ENST00000409202.3_Silent_p.F256F|ARHGAP25_ENST00000497079.1_Silent_p.F249F|ARHGAP25_ENST00000409220.1_Silent_p.F249F|ARHGAP25_ENST00000409030.3_Silent_p.F248F|ARHGAP25_ENST00000467265.1_Silent_p.F216F|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	255	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACGAAGGGTTCCTGCTCTGTG	0.522000													7	50					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49140834	49140834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49140834G>A	ENST00000306125.6	-	5	797	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	QARS_ENST00000420147.2_Missense_Mutation_p.R172W|QARS_ENST00000414533.1_Missense_Mutation_p.R143W			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	154					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.R154W(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCACAGCCCGAGCCTCTCCT	0.522000													7	83					0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130008274	130008274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:130008274G>A	ENST00000485477.1	+	12	2276	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	CPA5_ENST00000466363.2_Missense_Mutation_p.D383N|CPA5_ENST00000431780.2_Silent_p.S354S|CPA5_ENST00000461828.1_Missense_Mutation_p.D383N|CPA5_ENST00000355388.3_Missense_Mutation_p.D383N|CPA5_ENST00000474905.1_Missense_Mutation_p.D383N|CPA5_ENST00000393213.3_Missense_Mutation_p.D383N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	383					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GATCACCGTCGACTGGGCCTA	0.557000													26	100					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677348	219677348	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219677348C>T	ENST00000258415.4	+	4	1147	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	240					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CCGTGACCTTCGTCAGATCCA	0.552000													69	248					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630352	74630352	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74630352G>A	ENST00000358632.4	-	9	1748	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CYP11A1_ENST00000268053.6_Silent_p.F509F|CYP11A1_ENST00000419019.2_Silent_p.F351F	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	509					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCCAGAAGGTGAAGGAGATGG	0.547000													22	62					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156354372	156354372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156354372G>A	ENST00000400992.2	+	9	1561	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	RHBG_ENST00000368246.2_Missense_Mutation_p.E429K|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000368249.1_Missense_Mutation_p.R430Q|RHBG_ENST00000255013.3_Missense_Mutation_p.R361Q			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	430					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CCAGCACTACGAGGACCAAGT	0.617000											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100183020	100183020	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100183020G>A	ENST00000414213.1	-	11	1783	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	FRRS1_ENST00000287474.5_Silent_p.F394F			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	394	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGGCTTGAAGAACCGGGCAA	0.408000													4	86					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533878	69533878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69533878C>T	ENST00000338206.5	-	2	762	c.753G>A	c.(751-753)atG>atA	p.M251I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	251					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAGCTTTCCCCATTGTCTCAA	0.363000													6	29					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40980366	40980366	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40980366C>T	ENST00000372703.1	+	2	1224	c.150C>T	c.(148-150)tcC>tcT	p.S50S	EXO5_ENST00000358527.2_Silent_p.S50S|EXO5_ENST00000296380.4_Silent_p.S50S|RP11-656D10.5_ENST00000453437.1_RNA					exonuclease 5																		CTTCTGAATCCCTTGGGAAGG	0.418000													22	62					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795453	109795453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109795453C>T	ENST00000271332.3	+	1	2813	c.2752C>T	c.(2752-2754)Ccc>Tcc	p.P918S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	918	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAATGACAATCCCCCTGTCTT	0.567000													46	781					0	0	1	0	0
LACTB	114294	broad.mit.edu	37	15	63419597	63419597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:63419597C>T	ENST00000413507.2	+	4	700	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	LACTB_ENST00000261893.4_Missense_Mutation_p.R221C|RPS27L_ENST00000559763.1_Intron	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	221						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTGGAATTCGTCATTATGA	0.299000													6	83					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10301820	10301820	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10301820C>T	ENST00000403437.2	-	30	4213	c.4119G>A	c.(4117-4119)caG>caA	p.Q1373Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1373					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGTTCTCCACTGGGCAACCT	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				17	182					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84216904	84216904	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84216904G>A	ENST00000567759.1	-	5	536	c.354C>T	c.(352-354)gcC>gcT	p.A118A	TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000541676.1_Silent_p.A51A|TAF1C_ENST00000566732.1_Silent_p.A118A|TAF1C_ENST00000341690.6_Silent_p.A51A|TAF1C_ENST00000378541.4_Silent_p.A118A	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	118					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGGGCGCAAAGGCTACGTCTC	0.622000													8	47					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47101462	47101462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47101462G>A	ENST00000576409.1	-	9	1104	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	ATPAF1_ENST00000542495.1_Nonsense_Mutation_p.Q174*|ATPAF1_ENST00000532925.1_Nonsense_Mutation_p.Q237*|ATPAF1_ENST00000574428.1_Nonsense_Mutation_p.Q257*|ATPAF1_ENST00000371937.4_Nonsense_Mutation_p.Q325*|ATPAF1_ENST00000329231.4_Nonsense_Mutation_p.Q280*			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	325					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GTCTTATTTTGGTTCTGGGCA	0.483000													23	69					0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595469	152595469	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152595469C>T	ENST00000335674.1	-	1	110	c.111G>A	c.(109-111)ggG>ggA	p.G37G		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	37					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCACAGCCCCCAGAGCTTG	0.652000													7	57					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7566164	7566164	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7566164C>T	ENST00000361664.2	+	2	597	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	152										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GCCTCATCTTCGACCGCGACT	0.751000													6	24					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35441193	35441193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:35441193G>A	ENST00000237536.4	-	6	2712	c.2371C>T	c.(2371-2373)Cgc>Tgc	p.R791C	SOGA1_ENST00000357779.3_Missense_Mutation_p.R553C|SOGA1_ENST00000279034.5_Missense_Mutation_p.R553C|SOGA1_ENST00000456801.2_Missense_Mutation_p.R394C	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	553										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCACCAGTGCGGAAAGCCTCT	0.592000													4	23					0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376322	52376322	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52376322G>A	ENST00000420592.1	-	6	2077	c.744C>T	c.(742-744)ttC>ttT	p.F248F	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Silent_p.F248F|ZNF577_ENST00000301399.5_Silent_p.F307F|ZNF577_ENST00000485702.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACTTAAAATAGAAGGTTCTTC	0.433000													5	23					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203621973	203621973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:203621973C>T	ENST00000303116.6	+	6	1152	c.410C>T	c.(409-411)cCc>cTc	p.P137L	FAM117B_ENST00000392238.2_Missense_Mutation_p.P381L	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	381	Poly-Pro.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCTCCACCCCCCCTTGTACAG	0.493000													19	226					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15430618	15430618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15430618C>T	ENST00000376030.2	+	13	2275	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	661	SAM 3.				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						CCTGGGCATCCCCAGTGGGAA	0.632000													7	18					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988265	134988265	+	Silent	SNP	C	C	T	rs151240146		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:134988265C>T	ENST00000535938.1	+	6	704	c.537C>T	c.(535-537)ccC>ccT	p.P179P	SAGE1_ENST00000324447.3_Silent_p.P179P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.P179P	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	179										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAACTGGTCCCACAGGGCTTA	0.433000													8	29					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31905101	31905101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31905101G>A	ENST00000456570.1	+	5	590	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CFB_ENST00000477310.1_Missense_Mutation_p.E150K|C2_ENST00000299367.5_Missense_Mutation_p.E332K|C2_ENST00000452323.2_Missense_Mutation_p.E118K|C2_ENST00000469372.1_Missense_Mutation_p.E86K|CFB_ENST00000556679.1_Missense_Mutation_p.E179K|C2_ENST00000442278.2_Missense_Mutation_p.E200K			P00751	CFAB_HUMAN	complement factor B	348	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGATCATGAAAATGGAAC	0.463000													18	254					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991182	47991182	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991182G>A	ENST00000371741.4	-	2	1081	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	305					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)			TAAGGATGCGGAGAATTCGCA	0.532000													7	63					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513553	165513553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165513553C>T	ENST00000294818.1	+	1	310	c.20C>T	c.(19-21)cCt>cTt	p.P7L	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	7						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GCTTCAGGCCCTGGCCCTGGG	0.547000													4	70					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540236	103540236	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103540236T>A	ENST00000358392.2	-	4	906	c.589A>T	c.(589-591)Att>Ttt	p.I197F	COL11A1_ENST00000353414.4_Missense_Mutation_p.I197F|COL11A1_ENST00000512756.1_Missense_Mutation_p.I197F|COL11A1_ENST00000370096.3_Missense_Mutation_p.I197F	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	197	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTATCAACAATTGCTCTCTCA	0.373000													3	8					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100934477	100934477	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:100934477C>T	ENST00000335290.6	+	3	1168	c.942C>T	c.(940-942)ttC>ttT	p.F314F	WDR25_ENST00000402312.3_Silent_p.F314F|WDR25_ENST00000542471.2_Silent_p.F57F|WDR25_ENST00000554998.1_Silent_p.F314F	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	314										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				GCTTTGACTTCGCGCTGCACC	0.642000													35	152					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151788957	151788957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:151788957G>A	ENST00000535741.1	-	22	3105	c.2632C>T	c.(2632-2634)Cct>Tct	p.P878S	LRBA_ENST00000357115.3_Missense_Mutation_p.P878S|LRBA_ENST00000510413.1_Missense_Mutation_p.P878S|LRBA_ENST00000507224.1_Missense_Mutation_p.P878S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	878						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GAATTCTTAGGATTAAAATAG	0.388000													4	44					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194647	27194647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:27194647C>T	ENST00000242159.3	-	2	707	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	192					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTCGGACCTTCGTCCTTATGC	0.637000													15	133					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60987776	60987776	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60987776T>G	ENST00000252998.1	-	13	1936	c.1780A>C	c.(1780-1782)Agc>Cgc	p.S594R		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CCGGTCGTGCTCGTAGTGGCC	0.692000													4	86					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510796	110510796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110510796C>T	ENST00000378402.5	+	66	10809	c.10705C>T	c.(10705-10707)Cca>Tca	p.P3569S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3569					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)			TCCTAGATCTCCATCAGGTGA	0.353000										HNSCC(38;0.096)			7	39					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568970	49568970	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49568970C>T	ENST00000545947.1	+	6	1748	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	DAG1_ENST00000538711.1_Silent_p.P342P|DAG1_ENST00000539901.1_Silent_p.P342P|DAG1_ENST00000541308.1_Silent_p.P342P|DAG1_ENST00000308775.2_Silent_p.P342P|DAG1_ENST00000515359.2_Silent_p.P342P	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	342	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGCCAACCCCCACATCTCCAG	0.627000													8	88					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11773064	11773064	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11773064C>T	ENST00000381486.2	+	28	5166	c.4866C>T	c.(4864-4866)ctC>ctT	p.L1622L	GREB1_ENST00000234142.5_Silent_p.L1622L|GREB1_ENST00000396123.1_Silent_p.L620L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1622						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACCTGGAGCTCGAGCGGAACC	0.572000													6	33					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350866	56350866	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56350866G>A	ENST00000340482.3	-	8	1802	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	MPO_ENST00000225275.3_Silent_p.F510F			P05164	PERM_HUMAN	myeloperoxidase	510					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TGTCCAGGCGGAACATGAAGG	0.592000													10	157					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031474	43031474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43031474C>T	ENST00000161559.6	-	2	277	c.143G>A	c.(142-144)gGg>gAg	p.G48E	CEACAM1_ENST00000599389.1_Missense_Mutation_p.G48E|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G48E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G48E|CEACAM1_ENST00000351134.3_Missense_Mutation_p.G48E|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G8E|CEACAM1_ENST00000352591.5_Missense_Mutation_p.G48E|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G48E	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	48	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	AACCTCCTTCCCCTCTGCAAC	0.517000													15	116					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729474	37729474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:37729474G>A	ENST00000330843.4	-	4	2858	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	949					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CATGATTGGAGATTTAAAATC	0.458000													6	73					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76425163	76425163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:76425163G>A	ENST00000266671.5	-	1	2549	c.359C>T	c.(358-360)cCc>cTc	p.P120L	PHLDA1_ENST00000602540.1_5'UTR			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	120					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				GCGGGCCGGGGGCAGCAGCAG	0.731000													4	21					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410965	32410965	+	Missense_Mutation	SNP	C	C	T	rs61117681		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32410965C>T	ENST00000395388.2	+	3	441	c.332C>T	c.(331-333)cCt>cTt	p.P111L	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	111	Alpha-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCCCCAGTACCTCCAGAGGTA	0.502000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				3	32					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48738468	48738468	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48738468C>G	ENST00000285238.8	+	8	1071	c.991C>G	c.(991-993)Ctg>Gtg	p.L331V	ABCC3_ENST00000427699.1_Missense_Mutation_p.L331V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	331	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CAATCCACAGCTGCTCAGGTC	0.582000													3	23					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255385	70255385	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:70255385C>T	ENST00000342771.4	+	19	3504	c.3183C>T	c.(3181-3183)ttC>ttT	p.F1061F	AUTS2_ENST00000406775.2_Silent_p.F1037F	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1061										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAGAGCGCTTCCCGTACCCTT	0.622000													4	20					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287632	238287632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238287632G>A	ENST00000295550.4	-	6	2596	c.2144C>T	c.(2143-2145)tCg>tTg	p.S715L	COL6A3_ENST00000392004.3_Missense_Mutation_p.S509L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000353578.4_Missense_Mutation_p.S509L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S308L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S514L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S509L|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	715	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTCAGGCCCGAACCTCCCTG	0.537000													6	32					0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211243	38211243	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38211243C>T	ENST00000323205.6	+	5	828	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GCAT_ENST00000248924.6_Silent_p.F229F	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	229					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CCCTGGTCTTCATGGATGAAT	0.627000													5	36					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828379	32828379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32828379G>A	ENST00000397452.1	-	11	1240	c.1130C>T	c.(1129-1131)aCc>aTc	p.T377I	BPIFC_ENST00000534972.1_Missense_Mutation_p.T101I|BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.T377I			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	377						extracellular region	lipopolysaccharide binding|phospholipid binding										GGAAACGATGGTTTCAACTGT	0.512000													6	87					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4952413	4952413	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4952413C>T	ENST00000345988.2	-	4	521	c.432G>A	c.(430-432)gaG>gaA	p.E144E	PPL_ENST00000590782.2_Silent_p.E144E	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	144					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATACCAGCTTCTCCTCCACCA	0.632000													7	72					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427845	39427845	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39427845C>T	ENST00000216099.7	+	6	1316	c.909C>T	c.(907-909)ttC>ttT	p.F303F	APOBEC3D_ENST00000427494.2_Silent_p.F119F|APOBEC3D_ENST00000381568.4_Silent_p.F303F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	303					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGCCGAGTTCCTGGCCAGGC	0.572000													11	81					0	0	1	0	0
GPSM3	63940	broad.mit.edu	37	6	32159677	32159677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32159677G>A	ENST00000375040.3	-	3	546	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	GPSM3_ENST00000375043.3_Missense_Mutation_p.P52S|GPSM3_ENST00000487761.1_Missense_Mutation_p.P49S	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	52					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GCCGAGCGGGGTCCCAGGGCT	0.662000													20	174					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964007	123964007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:123964007C>T	ENST00000314393.4	+	3	1092	c.257C>T	c.(256-258)tCc>tTc	p.S86F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	86						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCCCCTACTCCACGCAAAAC	0.473000													5	55					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123324094	123324094	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123324094C>T	ENST00000358487.5	-	4	649		c.e4-1		FGFR2_ENST00000360144.3_Splice_Site|FGFR2_ENST00000359354.2_Splice_Site|FGFR2_ENST00000457416.2_Splice_Site|FGFR2_ENST00000369056.1_Splice_Site|FGFR2_ENST00000369060.4_Splice_Site|FGFR2_ENST00000346997.2_Splice_Site|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000490349.1_Splice_Site|FGFR2_ENST00000369061.4_Splice_Site|FGFR2_ENST00000351936.6_Splice_Site|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000357555.5_Splice_Site	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2						angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GAGATGGCATCTGTATGCAAA	0.433000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				10	77					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858195	40858195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40858195G>A	ENST00000428826.2	-	16	1790	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	EZH1_ENST00000592743.1_Missense_Mutation_p.R557C|EZH1_ENST00000590078.1_Missense_Mutation_p.R487C|EZH1_ENST00000585893.1_Missense_Mutation_p.R517C|EZH1_ENST00000435174.1_Missense_Mutation_p.R418C|EZH1_ENST00000590783.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.R548C			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	557	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCAGGGAAACGATTCTGACCT	0.483000													9	57					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234861	103234861	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:103234861C>T	ENST00000424685.2	-	26	3777	c.3618G>A	c.(3616-3618)ggG>ggA	p.G1206G	RELN_ENST00000428762.1_Silent_p.G1206G|RELN_ENST00000343529.5_Silent_p.G1206G			P78509	RELN_HUMAN	reelin	1206					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATAGTCCTCCCCTGAGAACA	0.483000													6	43					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835522	15835522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15835522G>A	ENST00000338282.6	-	22	2763	c.2657C>T	c.(2656-2658)aCc>aTc	p.T886I	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.T886I|MYH11_ENST00000452625.2_Missense_Mutation_p.T893I|MYH11_ENST00000396324.3_Missense_Mutation_p.T893I|MYH11_ENST00000300036.5_Missense_Mutation_p.T886I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	886					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						CTTCTCCTCGGTCAGCTGCAC	0.637000			T	CBFB	AML								8	88					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106623	55106623	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55106623G>A	ENST00000453777.1	+	5	587	c.417G>A	c.(415-417)ggG>ggA	p.G139G	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.G139G|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCAGGAGGGAACGTGACCC	0.542000													9	109					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221723	32221723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:32221723G>A	ENST00000373658.3	-	4	1056	c.715C>T	c.(715-717)Cca>Tca	p.P239S	BAI2_ENST00000373655.2_Missense_Mutation_p.P239S|BAI2_ENST00000398556.3_Missense_Mutation_p.P242S|BAI2_ENST00000527361.1_Missense_Mutation_p.P239S|BAI2_ENST00000398538.1_Missense_Mutation_p.P227S|BAI2_ENST00000398542.1_Missense_Mutation_p.P227S|BAI2_ENST00000398547.1_Missense_Mutation_p.P227S|BAI2_ENST00000257070.4_Missense_Mutation_p.P239S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	239					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGAGGGCCTGGAGATGTGGTG	0.701000													10	73					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060983	21060983	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21060983G>A	ENST00000261383.3	-	31	4367	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	DNAH3_ENST00000415178.1_Silent_p.S1456S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1456	AAA 1 (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)		CCAAACCATCGGAGCAGTTGA	0.507000													4	86					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15885240	15885240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:15885240G>A	ENST00000277632.3	-	3	426	c.206C>T	c.(205-207)tCg>tTg	p.S69L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	69					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AGACTTCTCCGAAGAAAACAG	0.323000													5	28					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866224	131866224	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131866224G>A	ENST00000359827.3	-	18	4370	c.3408C>T	c.(3406-3408)ttC>ttT	p.F1136F	PLXNA4_ENST00000321063.4_Silent_p.F1136F			Q9HCM2	PLXA4_HUMAN	plexin A4	1136	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATAGTAGGTGAAGTTGGTCT	0.572000													11	125					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164748	139164748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139164748G>A	ENST00000395297.1	-	13	2140	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	657										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)			GTCCTTTAGGGAAGACCTAAT	0.493000										HNSCC(54;0.14)			9	59					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101818850	101818850	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:101818850C>T	ENST00000263468.8	+	4	753	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	161							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCCCTTTTCCCGTAGACCAA	0.343000													3	16					0	0	1	0	0
OR1D4	653166	broad.mit.edu	37	17	3144006	3144006	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3144006C>T	ENST00000531680.1	+	0	37					NR_033795.1				olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene)																		CTCACAGTTCCTTCTCCTGGG	0.458000													4	33					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110282108	110282108	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110282108G>A	ENST00000540225.1	-	4	442	c.132C>T	c.(130-132)gaC>gaT	p.D44D	GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000256594.3_Silent_p.D44D|GSTM3_ENST00000361066.2_Silent_p.D44D			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	44	GST N-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTCGATCATAGTCAGGAGCTG	0.463000													56	256					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356579	37356579	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37356579G>A	ENST00000373091.3	-	2	250	c.234C>T	c.(232-234)acC>acT	p.T78T	GRIK3_ENST00000373093.4_Silent_p.T78T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	78					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATAGGTCAAGGTTGTGTTGG	0.547000													7	53					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484384	117484384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117484384C>T	ENST00000393203.2	+	2	244	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	33	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GACCCTGGTTCGAGTGGTGGG	0.537000													7	110					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022508	51022508	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51022508G>A	ENST00000599957.1	-	3	659	c.462C>T	c.(460-462)ttC>ttT	p.F154F	LRRC4B_ENST00000389201.3_Silent_p.F154F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	154						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACAGGTACTCGAAGGCCTGCG	0.657000													8	50					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329866	137329866	+	Silent	SNP	C	C	T	rs147634362		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:137329866C>T	ENST00000367748.1	-	4	847	c.261G>A	c.(259-261)gtG>gtA	p.V87V	IL20RA_ENST00000316649.5_Silent_p.V198V|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Silent_p.V149V			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	198	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)		TGTGGTTGGTCACACACTGGG	0.542000													4	48					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13466629	13466629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:13466629G>A	ENST00000278174.5	-	2	288	c.43C>T	c.(43-45)Cca>Tca	p.P15S	BTBD10_ENST00000528120.1_Intron	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	15						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CAATTCTCTGGATCACTGGAG	0.438000													4	35					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801552	140801552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140801552C>T	ENST00000398587.2	+	1	791	c.758C>T	c.(757-759)cCa>cTa	p.P253L	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.P253L|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGTGTTCCAGAAAACATC	0.488000													19	119					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880907	64880907	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:64880907C>T	ENST00000169565.3	+	4	699	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACTCTACTTCCCTTCCTCAT	0.622000													17	43					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34182037	34182037	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34182037C>T	ENST00000373381.4	-	20	3242	c.3066G>A	c.(3064-3066)gaG>gaA	p.E1022E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	982	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTGCCGTTCTCAGTGATGA	0.582000													4	53					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114473	65114473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65114473G>A	ENST00000268043.4	-	4	903	c.809C>T	c.(808-810)gCc>gTc	p.A270V	PIF1_ENST00000559239.1_Missense_Mutation_p.A270V|PIF1_ENST00000333425.6_Missense_Mutation_p.A270V			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	270	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						ACCTGCAAAGGCATGGAGGGT	0.612000													6	76					0	0	1	0	0
ZNF833P	401898	broad.mit.edu	37	19	11793448	11793448	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11793448G>A	ENST00000344893.3	+	0	1650					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TCTCTACAGAGATGTGATGTG	0.463000													5	31					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005181	42005181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:42005181C>T	ENST00000395925.3	-	15	3574	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1164					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1164K(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAGCTGACTTCGTTCCACTGA	0.677000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				16	206					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029427	219029427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219029427G>A	ENST00000295683.2	-	2	628	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	170					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGGAAGAAGGGCAGGGACAGA	0.522000													3	22					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325334	77325334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:77325334C>T	ENST00000282849.5	-	21	3649	c.3231G>A	c.(3229-3231)atG>atA	p.M1077I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1077	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CGCTGCACTTCATCTCCCTCT	0.483000													11	154					0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448549	52448549	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52448549C>T	ENST00000293471.6	+	6	2092	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Silent_p.L435L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGTCAGGTCTCATTAACCACC	0.428000													7	30					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793075	53793075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53793075C>T	ENST00000426466.1	-	1	1800	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	185					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGCTTCTCCTCTTGCAGACGC	0.428000													7	49					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629498	129629498	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129629498G>A	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CAGTTAAAATGATGGAGAGTT	0.443000													9	62					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10875068	10875068	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10875068A>T	ENST00000379491.4	-	5	828	c.681T>A	c.(679-681)atT>atA	p.I227I	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	227			I -> V (in dbSNP:rs35395043).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCTGCCCTGGAATAGGGAAGC	0.453000													9	49					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608299	84608299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:84608299G>A	ENST00000344803.2	+	4	2961	c.2914G>A	c.(2914-2916)Gaa>Aaa	p.E972K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTTTCAAGGAGAAAAGTTGGG	0.517000													17	72					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15392178	15392178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15392178G>A	ENST00000376030.2	+	8	1445	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	KAZN_ENST00000422387.2_Missense_Mutation_p.G384E|KAZN_ENST00000361144.5_Missense_Mutation_p.G378E|KAZN_ENST00000503743.1_Missense_Mutation_p.G384E|KAZN_ENST00000400798.2_Missense_Mutation_p.G290E|KAZN_ENST00000400797.3_Missense_Mutation_p.G290E	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	384					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						GAGAAGATGGGATTCGGCTCC	0.537000													7	78					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097788	170097788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170097788C>T	ENST00000263816.3	-	25	4040	c.3755G>A	c.(3754-3756)gGg>gAg	p.G1252E	LRP2_ENST00000443831.1_Missense_Mutation_p.G1115E	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1252	LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCTGGATGCCCATCACATTC	0.493000													5	67					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762734	176762734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176762734G>A	ENST00000367662.3	+	20	6223	c.5059G>A	c.(5059-5061)Gac>Aac	p.D1687N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1687	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCCCAGTGACCCCGTGAT	0.473000													7	46					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124321	12124321	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12124321G>A	ENST00000379388.2	+	4	4625	c.4293G>A	c.(4291-4293)cgG>cgA	p.R1431R		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1431					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACTGGTACGGCAAATATCTT	0.478000													10	34					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46180351	46180351	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46180351C>T	ENST00000590918.1	+	8	877	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	GIPR_ENST00000304207.8_Silent_p.L224L|GIPR_ENST00000263281.3_Silent_p.L260L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	260					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		p.L260L(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCGCTACTACCTGCTCCTCGG	0.692000													4	52					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232264	110232264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:110232264G>A	ENST00000418703.2	-	7	1455	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	TRPV4_ENST00000541794.1_Missense_Mutation_p.P407L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P394L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P420L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P407L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P394L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P454L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P347L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	454					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTCATTGATGGGCTCCACAGC	0.617000													7	92					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132439672	132439672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:132439672C>T	ENST00000304858.2	+	18	2562	c.2273C>T	c.(2272-2274)aCc>aTc	p.T758I		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	758					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGAGTTTGACCATGGATCCA	0.338000													6	33					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50537852	50537852	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50537852C>T	ENST00000444124.2	-	12	1259	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	DDC_ENST00000357936.5_Silent_p.L353L|DDC_ENST00000426377.1_Silent_p.L275L|DDC_ENST00000431062.1_Silent_p.L260L	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	353					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	ATCTTCTGCCCAGTGGTATCT	0.418000													14	43					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154397107	154397107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154397107G>A	ENST00000435029.4	+	1	3848	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1230	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCCCCTATCGAAGAAGAGGC	0.483000													3	14					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190250	66190250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66190250G>A	ENST00000311034.2	+	4	712	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	179					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CACCCACCTGGAGCCTACTGG	0.637000													4	80					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199934	71199934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71199934G>A	ENST00000554752.2	-	11	2151	c.2152C>T	c.(2152-2154)Cat>Tat	p.H718Y	MAP3K9_ENST00000554146.1_Missense_Mutation_p.H446Y|MAP3K9_ENST00000555993.2_Missense_Mutation_p.H732Y|MAP3K9_ENST00000553414.1_Missense_Mutation_p.H451Y|MAP3K9_ENST00000381250.4_Missense_Mutation_p.H695Y			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	718					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGCTCCTCATGGATTCCATCA	0.632000													5	65					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761058	62761058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62761058C>T	ENST00000336232.2	-	10	1502	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	SLC22A8_ENST00000535878.1_Missense_Mutation_p.G333E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G456E|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G365E|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G456E	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	456					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CACCATGCTTCCCACGCGGGT	0.582000													15	41					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435764	7435764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:7435764C>T	ENST00000319098.4	-	1	936	c.843G>A	c.(841-843)agG>agA	p.R281R	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	281					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CGCTCTGTTTCCTTGGCAACC	0.602000													4	36					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491840	103491840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103491840C>T	ENST00000370096.3	-	6	1141	c.829G>A	c.(829-831)Gag>Aag	p.E277K	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000358392.2_Intron|COL11A1_ENST00000512756.1_Missense_Mutation_p.E277K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	277	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCTTTATACTCTGCTTCCCCA	0.413000													7	39					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266293	266293	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:266293G>A	ENST00000538872.1	+	6	2374	c.2256G>A	c.(2254-2256)gaG>gaA	p.E752E	IQSEC3_ENST00000326261.4_Silent_p.E752E|IQSEC3_ENST00000382841.2_Silent_p.E449E			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	752	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AGAAGGTGGAGCGGCTCATTG	0.652000													3	8					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153141286	153141286	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153141286G>A	ENST00000370060.1	-	2	195	c.6C>T	c.(4-6)gtC>gtT	p.V2V	L1CAM_ENST00000370057.3_Silent_p.V2V|L1CAM_ENST00000370055.1_Silent_p.V2V|L1CAM_ENST00000543994.1_Silent_p.V2V|L1CAM_ENST00000361699.4_Silent_p.V2V|L1CAM_ENST00000538883.1_Silent_p.V2V|L1CAM_ENST00000361981.3_Silent_p.V2V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	2					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)					GCAGCGCCACGACCATCTTTC	0.692000											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	23					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78409974	78409974	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78409974C>T	ENST00000520284.1	+	6	592	c.174C>T	c.(172-174)ctC>ctT	p.L58L	ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000518907.1_Silent_p.L58L|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	0					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						gtcctcgtctcattcctgatc	0.532000								Direct reversal of damage					6	47					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4180894	4180894	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4180894G>A	ENST00000337491.2	-	2	143	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000305232.6_Missense_Mutation_p.P27S|SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000601488.1_Missense_Mutation_p.P27S	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	27					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTCCTCCGGGGGGTCGAAG	0.637000													4	37					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017845	161017845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161017845C>T	ENST00000368013.3	-	12	3286	c.2966G>A	c.(2965-2967)tGg>tAg	p.W989*	ARHGAP30_ENST00000368016.3_Nonsense_Mutation_p.W778*|ARHGAP30_ENST00000368015.1_Nonsense_Mutation_p.W812*	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	989					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCATTCCTCCAAGAGGATCG	0.592000													19	76					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13729599	13729599	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13729599C>T	ENST00000265104.4	-	69	11936	c.11832G>A	c.(11830-11832)ctG>ctA	p.L3944L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3944					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCACCAAATTCAGCCATGTTA	0.373000									Kartagener syndrome				6	32					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236862	42236862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:42236862C>T	ENST00000541110.1	-	5	1035	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	TRERF1_ENST00000354325.2_Missense_Mutation_p.R156Q|TRERF1_ENST00000340840.2_Missense_Mutation_p.R156Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.R156Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.R156Q			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	156					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GACCTGAATTCGCAGGTTTTG	0.567000													32	189					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243747	119243747	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119243747C>T	ENST00000260187.2	-	2	738	c.444G>A	c.(442-444)cgG>cgA	p.R148R	USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	148	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGGAGAAATCCCGGGCCAGGT	0.622000													6	102					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91146873	91146873	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:91146873A>T	ENST00000357056.2	-	8	1078	c.957T>A	c.(955-957)ttT>ttA	p.F319L	TTC7B_ENST00000328459.6_Missense_Mutation_p.F319L			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	319							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTTGAGGACAAAAAATGCTGC	0.358000													5	34					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182403981	182403981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182403981G>A	ENST00000410087.3	-	12	1476	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L	CERKL_ENST00000374970.2_Missense_Mutation_p.P390L|CERKL_ENST00000374969.2_Missense_Mutation_p.P346L|CERKL_ENST00000409440.3_Missense_Mutation_p.P441L|CERKL_ENST00000339098.5_Missense_Mutation_p.P485L	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTCAACAAATGGAAAATTGAA	0.353000													3	9					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938159	116938159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116938159C>T	ENST00000229554.5	+	1	510	c.373C>T	c.(373-375)Cct>Tct	p.P125S	RSPH4A_ENST00000368581.4_Missense_Mutation_p.P125S|RSPH4A_ENST00000368580.4_Missense_Mutation_p.P125S	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	125					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACACCTTATCCTGATCCTTT	0.517000									Kartagener syndrome				8	65					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52497915	52497915	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:52497915G>A	ENST00000219746.9	-	3	623	c.339C>T	c.(337-339)ctC>ctT	p.L113L	TOX3_ENST00000407228.3_Silent_p.L108L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	113					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TAATGGAAGGGAGGTCCAGGC	0.478000													7	42					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8008878	8008878	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:8008878C>T	ENST00000537635.1	+	1	442	c.24C>T	c.(22-24)tcC>tcT	p.S8S	EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTTCCGCTTCCGCCTCCTTCT	0.547000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	184					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519170	64519170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64519170C>T	ENST00000358025.3	+	48	8769	c.8539C>T	c.(8539-8541)Caa>Taa	p.Q2847*	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q2880*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q2847*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2847					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGGAAGTTTCAACTTATGGT	0.363000													6	37					0	0	1	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389223	39389223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39389223C>T	ENST00000411528.2	+	1	509	c.470C>T	c.(469-471)tCt>tTt	p.S157F		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	157	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCTTCTTGCTGCTAA	0.532000													30	158					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109971273	109971273	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:109971273C>T	ENST00000342494.3	+	27	3520	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	UBE3B_ENST00000434735.2_Silent_p.F975F|UBE3B_ENST00000535089.1_Silent_p.F62F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	975	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTTGCAGTTCGTGACCAGCT	0.617000													8	112					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764014	33764014	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33764014C>A	ENST00000216968.4	+	3	448	c.366C>A	c.(364-366)ccC>ccA	p.P122P	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	122					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	AGCTGCCTCCCGAGGGCTCTA	0.612000													5	139					1	1	1	1	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142942	31142942	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31142942G>A	ENST00000304166.4	+	14	1427	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E436K|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.E359K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E408K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	380					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CAGCAAAAGGGAAAGACTCGT	0.587000													8	109					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5039181	5039181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5039181G>A	ENST00000574788.1	+	17	2852	c.622G>A	c.(622-624)Gca>Aca	p.A208T	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Missense_Mutation_p.A208T|USP6_ENST00000250066.6_Missense_Mutation_p.A208T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	208	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGCATTCTGGGCACTGGTGCA	0.627000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								8	63					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113556998	113556998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113556998G>A	ENST00000546530.1	-	8	862	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.P193S|RASAL1_ENST00000261729.5_Missense_Mutation_p.P193S|RASAL1_ENST00000548055.1_Missense_Mutation_p.P193S	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	193	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.P193S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGTGGGGACGGGGCACCTGGC	0.597000													5	73					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12342813	12342813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12342813C>T	ENST00000358136.3	+	21	4784	c.4654C>T	c.(4654-4656)Ctc>Ttc	p.L1552F	VPS13D_ENST00000356315.4_Missense_Mutation_p.L1552F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1552					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTGGACAATCTCGTGTACAG	0.433000													5	64					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664262	122664262	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:122664262C>T	ENST00000263461.6	+	25	3378	c.3132C>T	c.(3130-3132)ggC>ggT	p.G1044G	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1044						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCTCGTCAGGCCCCTCTCAGA	0.443000													5	53					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692060	6692060	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6692060T>A	ENST00000309577.6	-	27	4437	c.4274A>T	c.(4273-4275)gAt>gTt	p.D1425V	CHD4_ENST00000544484.1_Missense_Mutation_p.D1422V|CHD4_ENST00000357008.2_Missense_Mutation_p.D1397V|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544040.1_Missense_Mutation_p.D1390V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1397					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATGGCTTATCTTTATCATT	0.458000													14	109					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4457550	4457550	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4457550G>A	ENST00000254718.4	-	3	624	c.318C>T	c.(316-318)ctC>ctT	p.L106L	MYBBP1A_ENST00000381556.2_Silent_p.L106L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	106	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGCACAAGGGGAGGTCTTCAA	0.547000													13	69					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754682	76754682	+	Silent	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:76754682C>G	ENST00000536229.3	+	1	3001	c.2292C>G	c.(2290-2292)tcC>tcG	p.S764S	SALL3_ENST00000575389.2_Silent_p.S897S|SALL3_ENST00000537592.2_Silent_p.S897S			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGCCCTGTCCGAGTCCTCGT	0.731000													6	23					0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66339802	66339802	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66339802C>T	ENST00000448504.2	+	3	1072	c.276C>T	c.(274-276)ctC>ctT	p.L92L	ARSG_ENST00000452479.2_5'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	92					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTCCTTGCTCACCGGCCGGC	0.607000													10	68					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756673	57756673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57756673G>A	ENST00000360716.3	+	11	1549	c.1328G>A	c.(1327-1329)aGg>aAg	p.R443K	CCDC135_ENST00000336825.8_Missense_Mutation_p.R378K|CCDC135_ENST00000394337.4_Missense_Mutation_p.R443K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	443						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGTACAAGAGGGCAAAGCTG	0.557000													7	65					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111861114	111861114	+	Splice_Site	SNP	G	G	A	rs144676218		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111861114G>A	ENST00000369740.1	+	9	832		c.e9-1		CHIA_ENST00000451398.2_Splice_Site|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Splice_Site|CHIA_ENST00000343320.6_Splice_Site|CHIA_ENST00000430615.1_Splice_Site|CHIA_ENST00000483391.1_Splice_Site	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic						apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGACATTGCAGGATTATGTCA	0.463000													5	55					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435594	145435594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145435594G>A	ENST00000511217.1	+	7	1425	c.1373G>A	c.(1372-1374)tGg>tAg	p.W458*	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Nonsense_Mutation_p.W458*			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	458							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACACCACATGGACGTTATCC	0.463000													16	160					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645059	186645059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:186645059C>T	ENST00000367468.5	-	8	1364	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	410					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GTGAATGATTCAACAAACTGG	0.358000													5	34					0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000440	219000440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219000440C>T	ENST00000318507.2	+	3	1343	c.916C>T	c.(916-918)Cac>Tac	p.H306Y		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	306					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GGGCATCCTTCACAGCTGCCT	0.562000													15	96					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510693	110510693	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110510693C>T	ENST00000378402.5	+	66	10706	c.10602C>T	c.(10600-10602)agC>agT	p.S3534S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3534					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)			CCAAACAGAGCTCATTAATTG	0.428000										HNSCC(38;0.096)			6	30					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54394986	54394986	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54394986G>A	ENST00000263431.3	+	6	870	c.588G>A	c.(586-588)gtG>gtA	p.V196V	PRKCG_ENST00000536044.1_Silent_p.V196V|PRKCG_ENST00000542049.1_Silent_p.V83V|PRKCG_ENST00000540413.1_Silent_p.V196V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	196	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCCCTATGTGAAACTGAAGC	0.517000													12	145					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490764	65490764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65490764C>T	ENST00000261883.4	-	9	2026	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	620					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACTGGCCTTCACTTTTCCTA	0.542000													9	128					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135152	31135152	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31135152G>A	ENST00000349752.5	-	14	2076	c.1437C>T	c.(1435-1437)gtC>gtT	p.V479V	GALNT14_ENST00000324589.5_Silent_p.V484V|GALNT14_ENST00000406653.1_Silent_p.V459V|GALNT14_ENST00000420311.2_Silent_p.V444V|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Silent_p.V446V	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	479	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ACAAGGTGATGACTGACAGGC	0.557000													5	80					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822641	97822641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:97822641C>T	ENST00000297293.5	+	11	3157	c.2864C>T	c.(2863-2865)tCt>tTt	p.S955F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	955					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCTCAATTCTAAAGACGCA	0.502000													14	104					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72829477	72829477	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72829477G>A	ENST00000268489.5	-	9	7776	c.7104C>T	c.(7102-7104)tcC>tcT	p.S2368S	ZFHX3_ENST00000397992.5_Silent_p.S1454S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2368					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCATCCATGGAATCCTCAT	0.527000													13	111					0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4621926	4621926	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4621926G>A	ENST00000300747.5	-	7	1327	c.1038C>T	c.(1036-1038)atC>atT	p.I346I		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	346	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.I346I(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCCAGGACGATATTATAGC	0.527000													6	21					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747754	116747754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116747754C>T	ENST00000331677.3	+	4	878	c.434C>T	c.(433-435)cCt>cTt	p.P145L	DSE_ENST00000359564.2_Missense_Mutation_p.P145L|DSE_ENST00000452085.3_Missense_Mutation_p.P145L|DSE_ENST00000537543.1_Missense_Mutation_p.P164L|DSE_ENST00000606265.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	145					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAAGATGCTCCTTGGGATGAG	0.433000													6	62					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270480	84270480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84270480C>T	ENST00000568181.1	-	2	732	c.612G>A	c.(610-612)atG>atA	p.M204I	KCNG4_ENST00000308251.4_Missense_Mutation_p.M204I			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	204						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCAGCCGGTTCATGCACAGGC	0.682000													6	36					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113999205	113999205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113999205C>T	ENST00000429538.3	-	7	894	c.700G>A	c.(700-702)Gag>Aag	p.E234K	AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.E234K|PAX8_ENST00000348715.5_Missense_Mutation_p.E234K|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.E234K|PAX8_ENST00000263335.7_Missense_Mutation_p.E234K|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000553869.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	234					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCGAGCGGCTCGAGGTGGTGC	0.627000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	35					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56382511	56382511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56382511C>T	ENST00000355701.3	-	30	6325	c.5455G>A	c.(5455-5457)Ggc>Agc	p.G1819S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1759S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1819S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1819	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACCAGGCCCCTTTGTCCA	0.622000													7	44					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101536	81101536	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:81101536T>G	ENST00000228641.3	+	1	260	c.38T>G	c.(37-39)tTc>tGc	p.F13C		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	13					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TCCTATTTCTTCTACTTGGAT	0.493000													7	75					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618790	170618790	+	Missense_Mutation	SNP	C	C	T	rs143120417		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170618790C>T	ENST00000513761.1	+	9	2027	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	CLCN3_ENST00000360642.3_Missense_Mutation_p.R463C|CLCN3_ENST00000347613.4_Missense_Mutation_p.R490C|CLCN3_ENST00000504131.2_Missense_Mutation_p.R473C	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	490					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CATTCCTGATCGTCCAGCAGG	0.403000													5	38					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154225334	154225334	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:154225334T>G	ENST00000360256.4	-	3	502	c.302A>C	c.(301-303)gAt>gCt	p.D101A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	101	F5/8 type A 1.|Plastocyanin-like 1.		D -> G (in HEMA; severe).|D -> H (in HEMA; severe sporadic).|D -> V (in HEMA).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACCACTGTATCATAAACCTC	0.453000													9	55					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779583	142779583	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:142779583G>A	ENST00000343796.2	-	2	1815	c.822C>T	c.(820-822)ccC>ccT	p.P274P	NR3C1_ENST00000394466.2_Silent_p.P274P|NR3C1_ENST00000394464.2_Silent_p.P274P|NR3C1_ENST00000504572.1_Silent_p.P274P|NR3C1_ENST00000231509.3_Silent_p.P274P|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.P274P|NR3C1_ENST00000503201.1_Silent_p.P274P|NR3C1_ENST00000424646.2_Silent_p.P274P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	274	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTTTCACTTGGGGCAGTGTTA	0.443000													15	79					0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156348107	156348107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156348107C>T	ENST00000400992.2	+	4	862	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RHBG_ENST00000368246.2_Missense_Mutation_p.S197L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.S197L|RHBG_ENST00000255013.3_Missense_Mutation_p.S128L|RHBG_ENST00000451864.2_Missense_Mutation_p.S165L			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	197					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCGTCCTTTCGCGGGTTCTG	0.627000													6	133					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130842030	130842030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130842030G>A	ENST00000245255.3	+	14	1869	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	533					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCTAGGATTGAAGTGGATGA	0.418000													4	24					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39081215	39081215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:39081215G>A	ENST00000295373.6	-	9	2137	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	671	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTCCTCTCATGAACTTCATCA	0.433000													32	62					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208205	53208205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:53208205G>A	ENST00000262593.5	+	5	810	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DOK5_ENST00000395939.1_Missense_Mutation_p.E46K	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	154	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TGTACATGGCGAATGTGCCTT	0.438000													12	78					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29797906	29797906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29797906G>A	ENST00000269202.6	+	14	2116	c.2069G>A	c.(2068-2070)cGa>cAa	p.R690Q	MEP1B_ENST00000581447.1_Missense_Mutation_p.R690Q	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	690					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R690Q(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCTCAAATCGACCAAATTTG	0.383000													6	25					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275785	152275785	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152275785C>T	ENST00000368799.1	-	3	11612	c.11577G>A	c.(11575-11577)caG>caA	p.Q3859Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3859	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGATCCCTGGCGCCTGC	0.582000									Ichthyosis				25	141					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88466428	88466428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88466428C>T	ENST00000361373.4	+	7	1058	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	LDB3_ENST00000458213.2_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron	NM_007078.2	NP_009009.1	O75112	LDB3_HUMAN	LIM domain binding 3	346						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ACTGCCATCGCCTCCGCCTCC	0.687000													6	38					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119060201	119060201	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:119060201G>A	ENST00000531114.1	+	9	2265	c.1716G>A	c.(1714-1716)taG>taA	p.*572*	PDZD3_ENST00000322712.4_Silent_p.*492*|PDZD3_ENST00000525131.1_Silent_p.*493*|PDZD3_ENST00000355547.5_Silent_p.*506*|PDZD3_ENST00000392817.2_Silent_p.*572*			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		ATCTACTGTAGAGCACCCCTG	0.562000													12	97					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55333131	55333131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55333131C>T	ENST00000391728.4	+	5	800	c.767C>T	c.(766-768)tCc>tTc	p.S256F	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.S256F|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.S256F|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.S256F|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.S256F|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.S161F	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TACCATCTATCCAGGGAGGGG	0.607000													9	36					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144381637	144381637	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:144381637C>T	ENST00000262995.4	+	9	2317	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	GAB1_ENST00000262994.4_Silent_p.D600D|GAB1_ENST00000505913.1_Silent_p.D497D	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	600					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					CCAGTGAAGACCCAGTATGTA	0.418000													4	61					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771320	143771320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143771320G>A	ENST00000408898.2	+	1	46	c.8G>A	c.(7-9)gGa>gAa	p.G3E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GAAATGGGGGGAAATCAGACT	0.448000													6	72					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955469	55955469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:55955469C>T	ENST00000373965.2	-	11	1673	c.1279G>A	c.(1279-1281)Gta>Ata	p.V427I	PCDH15_ENST00000395430.1_Missense_Mutation_p.V427I|PCDH15_ENST00000373955.1_Missense_Mutation_p.V427I|PCDH15_ENST00000361849.3_Missense_Mutation_p.V427I|PCDH15_ENST00000320301.6_Missense_Mutation_p.V427I|PCDH15_ENST00000395445.1_Missense_Mutation_p.V427I|PCDH15_ENST00000437009.1_Missense_Mutation_p.V427I|PCDH15_ENST00000395438.1_Missense_Mutation_p.V427I|PCDH15_ENST00000373957.3_Missense_Mutation_p.V405I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.V432I|PCDH15_ENST00000395440.1_Missense_Mutation_p.V427I|PCDH15_ENST00000395433.1_Missense_Mutation_p.V405I|PCDH15_ENST00000395446.1_Missense_Mutation_p.V427I|PCDH15_ENST00000395432.2_Missense_Mutation_p.V390I|PCDH15_ENST00000409834.1_Missense_Mutation_p.V31I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	427	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGAGCTACTATTCTTAAA	0.363000										HNSCC(58;0.16)			4	37					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151748984	151748984	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151748984G>A	ENST00000368822.1	-	7	1608	c.975C>T	c.(973-975)atC>atT	p.I325I	TDRKH_ENST00000368823.1_Silent_p.I321I|TDRKH_ENST00000458431.2_Silent_p.I325I|TDRKH_ENST00000368824.3_Silent_p.I325I|TDRKH_ENST00000368825.3_Silent_p.I280I|TDRKH_ENST00000440583.2_Silent_p.I101I|TDRKH_ENST00000368827.6_Silent_p.I325I			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	325							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGCCAACGATCTGGATCC	0.498000													18	88					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128301981	128301981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:128301981G>A	ENST00000262462.4	+	1	1161	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	SLC27A6_ENST00000395266.1_Missense_Mutation_p.G51R|SLC27A6_ENST00000506176.1_Missense_Mutation_p.G51R			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	51					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGAAAAGAGAGGGGAGCTGGT	0.443000													7	79					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427864	97427864	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:97427864C>T	ENST00000377075.2	+	1	1226	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	376					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TAGAGGATATCATGACCCAGC	0.517000													6	60					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105944858	105944858	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:105944858A>T	ENST00000357060.3	-	16	2172	c.2057T>A	c.(2056-2058)aTt>aAt	p.I686N	WDR96_ENST00000278064.2_Missense_Mutation_p.I617N|WDR96_ENST00000428666.1_Missense_Mutation_p.I687N	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	686										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						CATTGACTGAATCCCATGACC	0.403000													10	67					0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51178159	51178159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51178159G>A	ENST00000216139.5	+	3	359	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	ACR_ENST00000529621.1_Missense_Mutation_p.E107K	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	107	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CGGAGCAAAGGAAATTACATA	0.468000													15	98					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014049	75014049	+	Missense_Mutation	SNP	G	G	A	rs34260157	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75014049G>A	ENST00000379727.3	-	3	1033	c.835C>T	c.(835-837)Cgg>Tgg	p.R279W	CYP1A1_ENST00000395049.4_Missense_Mutation_p.R279W|CYP1A1_ENST00000564596.1_Missense_Mutation_p.R18W|CYP1A1_ENST00000395048.2_Missense_Mutation_p.R279W|CYP1A1_ENST00000567032.1_Missense_Mutation_p.R279W			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	279			R -> W (in dbSNP:rs34260157).		cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GTGATGTCCCGGATGTGGCCC	0.502000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				26	62					0	0	1	0	0
UBALD2	283991	broad.mit.edu	37	17	74266362	74266362	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74266362C>T	ENST00000327490.6	+	3	575	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UBALD2_ENST00000589240.1_Silent_p.L31L	NM_182565.3	NP_872371.1			UBA-like domain containing 2																		CTCCGAGGGCCTGCAGAGCAG	0.682000													6	27					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21871530	21871530	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:21871530C>T	ENST00000365779.2	+	5	660	c.579C>T	c.(577-579)ctC>ctT	p.L193L	MBTPS2_ENST00000379484.5_Silent_p.L193L|MBTPS2_ENST00000465888.1_3'UTR			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	193					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGATTTTTCTCTTCATTATTT	0.333000													5	35					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709789	154709789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:154709789C>T	ENST00000274063.4	-	1	483	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	67	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TTCATGGTCTCGTGGCCCAGC	0.617000													14	124					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085891	44085891	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44085891G>A	ENST00000359947.4	+	30	5577	c.5238_splice	c.e30+1	p.R1746_splice	PTPRF_ENST00000438120.1_Splice_Site_p.R1737_splice|PTPRF_ENST00000422171.2_Splice_Site_p.R1105_splice|PTPRF_ENST00000372414.3_Splice_Site_p.R1746_splice|PTPRF_ENST00000372413.3_Splice_Site_p.R1737_splice|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1746	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGATGGGCAGGGTGAGCCCA	0.612000													7	135					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052967	43052967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43052967C>T	ENST00000443598.2	+	8	1291	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000316099.3_Intron|HNF4A_ENST00000415691.1_Intron	NM_001030004.2|NM_178850.2	NP_001025175.1|NP_849181.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	0					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			acagtgagctcacccctcagc	0.592000													38	202					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46176122	46176122	+	Silent	SNP	C	C	T	rs148407413		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46176122C>T	ENST00000590918.1	+	5	393	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GIPR_ENST00000304207.8_Silent_p.F62F|GIPR_ENST00000263281.3_Silent_p.F98F	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	98					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGCAGGTTTCGTCCTCCGCC	0.478000													7	45					0	0	1	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154210	61154210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61154210C>T	ENST00000382771.4	+	3	492	c.200C>T	c.(199-201)cCc>cTc	p.P67L	SERPINB5_ENST00000489441.1_Missense_Mutation_p.P67L	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	67					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAAGATGTACCCTTTGGATTT	0.378000													8	53					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986993	46986993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:46986993C>T	ENST00000306503.5	+	2	1496	c.1324C>T	c.(1324-1326)Cat>Tat	p.H442Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H442Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	442	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTTCGACGCCCATGACCCGTG	0.463000													11	43					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368588	12368588	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12368588G>A	ENST00000358136.3	+	27	6670	c.6540G>A	c.(6538-6540)gaG>gaA	p.E2180E	VPS13D_ENST00000356315.4_Silent_p.E2180E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2180					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGGCACCAGAGGATAGTAGTG	0.502000													34	120					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504889	18504889	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:18504889G>A	ENST00000380548.4	+	2	465	c.126G>A	c.(124-126)tgG>tgA	p.W42*	ADAMTSL1_ENST00000431052.2_Nonsense_Mutation_p.W42*|ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.W42*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.W42*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.W42*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.W42*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	42	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGCCCATGGAGTGAATGCT	0.607000													6	68					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259167	89259167	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:89259167G>A	ENST00000336596.2	+	3	536	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R104Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R104Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	104						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCACTCTACGAGACTGCAAT	0.443000										TSP Lung(6;0.00050)			5	41					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11102955	11102955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11102955C>T	ENST00000400897.3	-	6	881	c.866G>A	c.(865-867)tGg>tAg	p.W289*		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	289	CUB 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTGGATCTTCCAGCCTGTGTG	0.532000													9	107					0	0	1	0	0
ZC3H8	84524	broad.mit.edu	37	2	112996074	112996074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112996074G>A	ENST00000409573.1	-	3	317	c.188C>T	c.(187-189)tCg>tTg	p.S63L	ZC3H8_ENST00000272570.5_Missense_Mutation_p.S63L			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	63					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						TCTATGCAGCGAACTTTTTGG	0.318000													5	68					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96798394	96798394	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:96798394C>T	ENST00000342380.2	-	6	521	c.522G>A	c.(520-522)caG>caA	p.Q174Q		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	174					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCGGCCCTTCTGGAGACACG	0.632000													16	97					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21035967	21035967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21035967G>A	ENST00000261383.3	-	39	5596	c.5597C>T	c.(5596-5598)tCc>tTc	p.S1866F	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1866F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1866	AAA 2 (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)		GTCCATGTAGGAATCCTTCAG	0.542000													4	32					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342118	42342118	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42342118C>T	ENST00000330743.3	-	4	1640	c.429G>A	c.(427-429)ccG>ccA	p.P143P	LYPD4_ENST00000601246.1_Silent_p.P108P|LYPD4_ENST00000343055.4_Silent_p.P108P	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	143	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CCACACAGGTCGGGCAGCTAC	0.493000													5	58					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091091	106091091	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106091091C>T	ENST00000390543.2	-	0	705																											GTCATCTCCTCCTGGGATGGG	0.647000													8	559					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671939	49671939	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49671939C>T	ENST00000252826.5	+	6	868	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R248C|TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	248					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGCGAGAACCGCTTCCGCTT	0.642000													4	15					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351598	74351598	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:74351598G>A	ENST00000355773.5	-	3	609	c.341C>T	c.(340-342)tCc>tTc	p.S114F	SLC17A5_ENST00000393019.3_Missense_Mutation_p.S114F|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	114					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAAAAAAAGGAACCGAGAAT	0.418000													7	91					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287742	79287742	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79287742G>A	ENST00000332900.1	-	3	648	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	33						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			ACCAGGTAAGGAGATAAATCA	0.587000													23	76					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602848	5602848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5602848C>T	ENST00000345043.2	+	1	742	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCGCCTCCTTTCTCAAGA	0.502000													8	136					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239535	151239535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:151239535C>T	ENST00000274576.4	-	4	579	c.287G>A	c.(286-288)tGg>tAg	p.W96*	GLRA1_ENST00000545569.1_Nonsense_Mutation_p.W13*|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Nonsense_Mutation_p.W96*	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	96					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGGGTCGTTCCATTGCTGCCG	0.522000													5	34					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32653147	32653147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:32653147C>T	ENST00000380250.3	+	2	743	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACGCAAGATTCGTATCATTAT	0.413000													6	40					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43857890	43857890	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43857890C>T	ENST00000378009.4	+	0	66				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TACTGCTGGCCCTCCTGGGGT	0.562000													7	109					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829790	13829790	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13829790C>T	ENST00000265104.4	-	38	6377	c.6273G>A	c.(6271-6273)caG>caA	p.Q2091Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2091	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGGAGTTCCTGCCGTCCGG	0.428000									Kartagener syndrome				3	16					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178855150	178855150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:178855150C>T	ENST00000367635.3	+	13	1425	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328S|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363S	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGCAACGTTTCCAAATGCAGG	0.363000													6	25					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246853	7246853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7246853G>A	ENST00000158762.3	+	6	706	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	167	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GCTGGGTACCGGGGACGGGCA	0.652000													5	38					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210658535	210658535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:210658535G>A	ENST00000439458.1	+	7	970	c.890G>A	c.(889-891)gGa>gAa	p.G297E	UNC80_ENST00000272845.5_Missense_Mutation_p.G297E|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	297						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCCTTTGATGGAAGTCTGTCC	0.483000													5	55					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778920	31778920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31778920G>A	ENST00000375654.4	-	2	1019	c.830C>T	c.(829-831)tCg>tTg	p.S277L	HSPA1L_ENST00000417199.3_Missense_Mutation_p.S277L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	277					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGCTGGACGACAGGGTCCT	0.527000													79	402					0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263248	34263248	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:34263248C>T	ENST00000262622.3	+	4	1313	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CHST8_ENST00000438847.2_Silent_p.F185F|CHST8_ENST00000434302.1_Silent_p.F185F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	185					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCCGTATCTTCGTGGAGGACC	0.706000													9	43					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744272	17744272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:17744272C>T	ENST00000380060.3	+	6	2321	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F	NHS_ENST00000398097.3_Silent_p.F505F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	661						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCAGTGTTTTCGTGACAGAGC	0.512000													16	60					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101092580	101092580	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101092580C>T	ENST00000537026.1	-	15	1325	c.966G>A	c.(964-966)gtG>gtA	p.V322V	NXF5_ENST00000361708.2_Silent_p.V322V|NXF5_ENST00000473265.2_Silent_p.V322V	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	322	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TGAGGGAGTCCACGTTTCGTG	0.542000													9	41					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121592	38121592	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38121592C>T	ENST00000406386.3	+	7	3284	c.3029C>T	c.(3028-3030)tCc>tTc	p.S1010F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1010					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTGAGCCCTCCCAGCCTCCA	0.637000													10	119					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866465	224866465	+	Silent	SNP	G	G	A	rs3795875		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:224866465G>A	ENST00000409840.3	-	3	813	c.153C>T	c.(151-153)atC>atT	p.I51I	SERPINE2_ENST00000258405.4_Silent_p.I51I|SERPINE2_ENST00000447280.2_Silent_p.I63I|SERPINE2_ENST00000409304.1_Silent_p.I51I			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	51			I -> M (in dbSNP:rs3795875).		negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567000													8	64					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224871	59224871	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:59224871G>A	ENST00000300127.2	+	1	461	c.438G>A	c.(436-438)gtG>gtA	p.V146V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V146V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCTTGGTGGTGGCTTCTTGGG	0.507000													22	94					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114524263	114524263	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114524263T>A	ENST00000369551.1	+	4	1321	c.1033T>A	c.(1033-1035)Ttt>Att	p.F345I	OLFML3_ENST00000393300.2_Missense_Mutation_p.F345I|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Missense_Mutation_p.F365I			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	365	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCCCTTATTTTCCCCGCAG	0.582000													5	51					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489220	42489220	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42489220G>A	ENST00000545399.1	-	8	1035	c.882C>T	c.(880-882)ttC>ttT	p.F294F	ATP1A3_ENST00000302102.5_Silent_p.F281F|ATP1A3_ENST00000602133.1_Silent_p.F251F|ATP1A3_ENST00000543770.1_Silent_p.F292F	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	281					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGAGCTGGATGAAGTGCTCAA	0.602000													6	19					0	0	1	0	0
C6orf89	221477	broad.mit.edu	37	6	36882459	36882459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36882459C>T	ENST00000480824.2	+	6	979	c.685C>T	c.(685-687)Cct>Tct	p.P229S	C6orf89_ENST00000373685.1_Missense_Mutation_p.P229S|C6orf89_ENST00000355190.3_Missense_Mutation_p.P236S|C6orf89_ENST00000359359.2_Missense_Mutation_p.P123S|C6orf89_ENST00000510325.2_Missense_Mutation_p.P123S			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	229						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTTCCCATTTCCTTATCCATG	0.557000													9	115					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451836	100451836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100451836C>T	ENST00000354161.3	+	2	142	c.17C>T	c.(16-18)tCa>tTa	p.S6L	SLC12A9_ENST00000540482.1_Missense_Mutation_p.S6L|SLC12A9_ENST00000275729.3_Missense_Mutation_p.S6L|SLC12A9_ENST00000428758.1_Missense_Mutation_p.S6L|SLC12A9_ENST00000415287.1_Missense_Mutation_p.S6L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	6						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632000													6	57					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52156447	52156447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52156447G>A	ENST00000354534.5	+	15	2709	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.R844Q|SCN8A_ENST00000550891.1_Missense_Mutation_p.R844Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	844					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCAGTGCTGCGATCTTTCCGA	0.363000													5	62					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27943796	27943796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27943796C>T	ENST00000374005.3	-	6	728	c.440G>A	c.(439-441)gGa>gAa	p.G147E	FGR_ENST00000545953.1_Intron|FGR_ENST00000374004.1_Missense_Mutation_p.G147E|FGR_ENST00000399173.1_Missense_Mutation_p.G147E	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	147	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAATCTTTCCAAAGTACCA	0.557000													4	60					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98848742	98848742	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:98848742C>T	ENST00000554295.1	-	0	2181					NR_033801.1																						TCCAGCACTTCCTCTGAGCTG	0.547000													3	5					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72047482	72047482	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:72047482G>A	ENST00000265381.4	-	12	2634	c.2412C>T	c.(2410-2412)atC>atT	p.I804I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	804	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.I804I(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GAATGTGGACGATCTTCTCGT	0.622000													7	18					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716487	13716487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:13716487C>T	ENST00000279593.3	-	13	3894	c.3685G>A	c.(3685-3687)Gtg>Atg	p.V1229M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1229					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCCGTCACCGTCGTGGAG	0.602000													5	55					0	0	1	0	0
CLCN3	1182	broad.mit.edu	37	4	170618496	170618496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:170618496C>T	ENST00000513761.1	+	9	1733	c.1174C>T	c.(1174-1176)Cct>Tct	p.P392S	CLCN3_ENST00000360642.3_Missense_Mutation_p.P365S|CLCN3_ENST00000347613.4_Missense_Mutation_p.P392S|CLCN3_ENST00000504131.2_Missense_Mutation_p.P375S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	392					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TGAACTGTTTCCTTTTATTCT	0.433000													6	55					0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11541767	11541767	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:11541767G>A	ENST00000356392.4	-	2	405	c.318C>T	c.(316-318)ctC>ctT	p.L106L	CCDC151_ENST00000586836.1_5'UTR|CCDC151_ENST00000591179.1_Silent_p.L106L|CCDC151_ENST00000545100.1_Silent_p.L52L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	106										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCTCCTTGCGGAGCTGACTGA	0.572000													11	171					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5961201	5961201	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5961201G>A	ENST00000531445.1	-	7	2200	c.2154C>T	c.(2152-2154)ctC>ctT	p.L718L	C4orf50_ENST00000324058.5_Silent_p.L244L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	244										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGGGCTCAGGAGCTCAGAGG	0.522000													6	64					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72521938	72521938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72521938C>T	ENST00000392621.1	-	2	434	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CD300LB_ENST00000314401.3_Missense_Mutation_p.E144K	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	107				G -> R (in Ref. 1; AAV69612).		integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CCTCTTCTTTCAATCCCACAC	0.527000													59	161					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384925	133384925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:133384925G>A	ENST00000204726.3	-	5	1288	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R244W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R244W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R244W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R244W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	244	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R244R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCAGAGACCGGATTTTGCTT	0.547000													13	139					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438429	10438429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10438429C>T	ENST00000245503.5	-	19	2525	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G714E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	714	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTGGAAATCCTTTCCTACA	0.418000													4	29					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358399	124358399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:124358399G>A	ENST00000368909.3	+	26	3172	c.3066G>A	c.(3064-3066)tgG>tgA	p.W1022*	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.W1012*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.W1012*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.W523*|DMBT1_ENST00000338354.3_Nonsense_Mutation_p.W1022*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.W523*	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1022	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGACAGCTGGGACACCAATG	0.612000													40	338					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509761	198509761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:198509761C>T	ENST00000309309.7	-	2	125	c.20G>A	c.(19-21)gGg>gAg	p.G7E	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.G7E|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.G7E|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.G7E|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.G7E	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	7					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTGGTGGATCCCCTGAGACTG	0.448000													4	50					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072850	17072850	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17072850G>A	ENST00000359963.3	-	1	850	c.591C>T	c.(589-591)agC>agT	p.S197S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	197					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAGGCTTGAAGCTGCCGTCTA	0.617000													19	81					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76486467	76486467	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:76486467G>A	ENST00000307431.8	+	9	1516	c.1131G>A	c.(1129-1131)agG>agA	p.R377R	CNTNAP4_ENST00000476707.1_Silent_p.R381R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.R329R|CNTNAP4_ENST00000478060.1_Silent_p.R305R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	378					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGAGCTCCAGGAGTTATTTAG	0.418000													7	63					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167831	140167831	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140167831G>A	ENST00000504120.2	+	1	1956	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.K652K	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTAGTGAAGGATCACGGTG	0.657000													9	48					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61941176	61941176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61941176C>T	ENST00000422202.1	+	9	1261	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	COL20A1_ENST00000358894.6_Missense_Mutation_p.S391F|COL20A1_ENST00000435874.1_Missense_Mutation_p.S398F|COL20A1_ENST00000326996.6_Missense_Mutation_p.S391F			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	391	Fibronectin type-III 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTGACCTCCTCCAGCATCCGC	0.692000											OREG0026127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	17					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968488	200968488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200968488G>A	ENST00000332129.2	-	13	2190	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	KIF21B_ENST00000461742.2_Missense_Mutation_p.P625L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P625L|KIF21B_ENST00000422435.2_Missense_Mutation_p.P625L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	625					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCTCCTCGGGGTCTGAGTC	0.622000													14	78					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45949844	45949844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45949844G>A	ENST00000531526.1	+	13	1982	c.1871G>A	c.(1870-1872)cGa>cAa	p.R624Q	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R593Q|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R624Q|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R624Q|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R593Q	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	624					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGGTGCCACGAGACTGTCCC	0.637000													15	169					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774545	10774545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:10774545G>A	ENST00000075503.3	-	10	1514	c.994C>T	c.(994-996)Cct>Tct	p.P332S		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	332	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGCTGGTAGGAGGGACTTCA	0.418000										HNSCC(73;0.22)			9	84					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64612818	64612818	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64612818C>T	ENST00000357395.3	+	85	15815	c.4671C>T	c.(4669-4671)atC>atT	p.I1557I	SYNE2_ENST00000555002.1_Silent_p.I1806I|SYNE2_ENST00000554584.1_Silent_p.I5089I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.I1557I|SYNE2_ENST00000358025.3_Silent_p.I5172I|SYNE2_ENST00000344113.4_Silent_p.I5172I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5172					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAGAAAGTATCACTGAGAGTG	0.318000													4	21					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76809475	76809475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:76809475G>A	ENST00000286719.7	-	6	780	c.424C>T	c.(424-426)Cat>Tat	p.H142Y		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	142	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGCGAGCATGGAGCTGCTAC	0.473000													10	52					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689690	109689690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:109689690C>T	ENST00000277225.5	+	3	3786	c.3497C>T	c.(3496-3498)tCc>tTc	p.S1166F	ZNF462_ENST00000457913.1_Missense_Mutation_p.S1166F|ZNF462_ENST00000441147.2_Missense_Mutation_p.S11F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCCCAAGGCTCCCCCCGGCCA	0.542000													17	85					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26402264	26402264	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:26402264C>T	ENST00000381655.2	+	28	2830	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Intron	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	856					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F896F(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGCTTTGGTTCGCCTTTGTTA	0.403000													13	102					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100523341	100523341	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:100523341A>C	ENST00000358544.2	+	29	4420	c.4309A>C	c.(4309-4311)Aaa>Caa	p.K1437Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K1412Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1437					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACAACTACAAAACTTCTAGA	0.333000													3	28					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34072483	34072483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34072483C>T	ENST00000389232.4	+	65	9279	c.9209C>T	c.(9208-9210)aCc>aTc	p.T3070I	RYR3_ENST00000415757.3_Missense_Mutation_p.T3070I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3070					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGAGCCCACCCTTAATCGC	0.527000													4	22					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216458	111216458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111216458C>T	ENST00000369769.2	-	1	1197	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	325						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATGATGTTTCGCGAGAAGGT	0.532000													12	88					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14589290	14589290	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14589290G>T	ENST00000393033.4	-	9	1209	c.940C>A	c.(940-942)Cct>Act	p.P314T	GIPC1_ENST00000345425.2_Missense_Mutation_p.P314T|GIPC1_ENST00000591349.1_Missense_Mutation_p.P217T|GIPC1_ENST00000393029.3_Missense_Mutation_p.P217T|GIPC1_ENST00000393028.1_Missense_Mutation_p.P217T|GIPC1_ENST00000586027.1_Missense_Mutation_p.P314T	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	314					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AACTCGTCAGGGAAGGCAAAG	0.642000													4	37					0.150653	0.151545	1	1	0
PKN1	5585	broad.mit.edu	37	19	14562690	14562690	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14562690C>T	ENST00000242783.6	+	7	1185	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	PKN1_ENST00000342216.4_Silent_p.I346I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	340	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGAGACCATCCCGTGGAACC	0.687000													5	28					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5990116	5990116	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:5990116C>T	ENST00000531445.1	-	1	1429	c.1383G>A	c.(1381-1383)gtG>gtA	p.V461V	C4orf50_ENST00000324058.5_5'UTR			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	0										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCCCCTGAGCCACAGAACACC	0.542000													4	30					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543371	182543371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:182543371C>T	ENST00000295108.3	-	2	674	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	73	Glu-rich (acidic).|Poly-Glu.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			tcctcctcttcctcttcttcc	0.542000													25	385					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102707	107102707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:107102707C>T	ENST00000369046.4	+	8	1056	c.952C>T	c.(952-954)Cct>Tct	p.P318S		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	318					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGTATCCCTTCCTCACACCAG	0.428000													12	49					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080489	42080489	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:42080489G>A	ENST00000400454.1	-	2	729	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	84	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGGGAAGGGGAAAATTTGGA	0.498000													19	58					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12858259	12858259	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:12858259C>T	ENST00000378847.3	+	8	1102	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CAMK1D_ENST00000378845.1_Silent_p.F255F	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	255	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAAAAGACTTCATTCGGAACC	0.507000													36	158					0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30437809	30437809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:30437809G>A	ENST00000355904.4	-	7	1030	c.748C>T	c.(748-750)Cca>Tca	p.P250S		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	250					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		ACTTTCTTTGGTCCAGATTCC	0.488000													9	38					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168265363	168265363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:168265363C>T	ENST00000366806.2	+	2	380	c.238C>T	c.(238-240)Cga>Tga	p.R80*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.R80*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.R80*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.R80*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.R80*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.R80*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.R80*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	80	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGAGAAATTTCGACCTGATAT	0.453000			T	MLL	AL								22	117					0	0	1	0	0
IGLV6-57	28778	broad.mit.edu	37	22	22550623	22550623	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22550623G>A	ENST00000390285.2	+	0	386																											TCTCTGGACTGAAGACTGAGG	0.532000													5	50					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285572	238285572	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238285572G>A	ENST00000295550.4	-	7	3365	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	COL6A3_ENST00000392004.3_Silent_p.F765F|COL6A3_ENST00000346358.4_Silent_p.F771F|COL6A3_ENST00000353578.4_Silent_p.F765F|COL6A3_ENST00000392003.2_Silent_p.F564F|COL6A3_ENST00000347401.3_Silent_p.F770F|COL6A3_ENST00000409809.1_Silent_p.F765F|COL6A3_ENST00000472056.1_Silent_p.F364F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	971	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTTGGAAGATGAAAGGCACAA	0.547000													18	101					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111991770	111991770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:111991770G>A	ENST00000235090.5	-	1	228	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	ATP5F1_ENST00000369722.3_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.P8S	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	8					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCACTAGGGGGGGTGGGGTT	0.672000													6	13					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77708372	77708372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:77708372C>T	ENST00000354212.4	-	21	3851	c.3598G>A	c.(3598-3600)Gaa>Aaa	p.E1200K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E1186K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E1200K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1200	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTGTGCTTTCCCCATTGATT	0.428000													8	107					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115152029	115152029	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:115152029G>A	ENST00000250535.4	-	1	622	c.66C>T	c.(64-66)ctC>ctT	p.L22L	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	22					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGCCGGCAAAGAGCTGGTGCA	0.612000													7	155					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100904148	100904148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:100904148G>A	ENST00000370552.3	-	3	516	c.457C>T	c.(457-459)Cga>Tga	p.R153*	HPSE2_ENST00000370549.1_Nonsense_Mutation_p.R153*|HPSE2_ENST00000370546.1_Nonsense_Mutation_p.R153*|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	153					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACATCACTTCGAACAATGTCT	0.403000													5	36					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32914272	32914272	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32914272G>A	ENST00000358763.2	-	13	1610	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Silent_p.P456P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	456	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGTTGGGAGGGGCTTCCAG	0.577000													10	127					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	79082546	79082546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:79082546C>T	ENST00000354212.4	-	1	344	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MAGI2-AS3_ENST00000429408.1_RNA|MAGI2-AS3_ENST00000426835.1_RNA|MAGI2_ENST00000419488.1_Missense_Mutation_p.E31K|MAGI2-AS3_ENST00000446159.1_RNA|MAGI2_ENST00000522391.1_Missense_Mutation_p.E31K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	31	PDZ 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCTTCAGTTCAAAGCCCAGC	0.577000													26	131					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988994	64988994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64988994G>A	ENST00000358738.3	+	2	1163	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ZBTB1_ENST00000554015.1_Missense_Mutation_p.D258N|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D258N	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGATATTAGAGATGGAAAAGA	0.358000													4	20					0	0	1	0	0
RAB5C	5878	broad.mit.edu	37	17	40280676	40280676	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40280676G>A	ENST00000393860.3	-	4	625	c.309C>T	c.(307-309)atC>atT	p.I103I	CTD-2132N18.3_ENST00000592574.1_Silent_p.I103I|RAB5C_ENST00000346213.4_Silent_p.I103I|RAB5C_ENST00000547517.1_Silent_p.I136I	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	103					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGTGTTGGTGATGTCATAGA	0.527000													9	92					0	0	1	0	0
CCDC3	83643	broad.mit.edu	37	10	13040470	13040470	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:13040470G>A	ENST00000378839.1	-	6	994	c.42C>T	c.(40-42)ttC>ttT	p.F14F	CCDC3_ENST00000378825.3_Silent_p.F139F			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	139						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGGCATCTTGGAAATTGACTC	0.458000													6	46					0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284000													10	50					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958114	92958114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92958114G>A	ENST00000532405.1	+	15	1869	c.1643G>A	c.(1642-1644)gGa>gAa	p.G548E	SLC24A4_ENST00000298877.1_Missense_Mutation_p.G531E|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G529E|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G484E|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G512E			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	548						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTTAATTATGGATCAACAGTA	0.512000													13	40					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432759	30432759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30432759G>A	ENST00000375978.3	-	1	661	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	196					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTTGGGCGTGGAAATCTCTTT	0.632000													6	59					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583684	7583684	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7583684G>A	ENST00000379802.3	+	24	6530	c.6189G>A	c.(6187-6189)cgG>cgA	p.R2063R	DSP_ENST00000418664.2_Silent_p.R1464R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2063	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCCCCATCGGAATGAGAAGC	0.483000													7	81					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127477568	127477568	+	Silent	SNP	C	C	T	rs111727169	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:127477568C>T	ENST00000262461.2	+	10	1857	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	SLC12A2_ENST00000343225.4_Silent_p.I556I	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	556					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	p.I556I(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGACACTATCGTAACAGAGC	0.363000													4	33					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227216	25227216	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25227216C>T	ENST00000551631.2	+	0	519				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTCTGAAATCCAGTCAGTGTG	0.363000													22	121					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144821989	144821989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:144821989C>T	ENST00000440491.2	+	7	932	c.932C>T	c.(931-933)tCa>tTa	p.S311L	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.S311L|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						TCGACTCCCTCAATTCCTCCT	0.502000													6	99					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165056	98165056	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:98165056A>T	ENST00000370192.3	-	6	631	c.531T>A	c.(529-531)ccT>ccA	p.P177P	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	177					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTGGGGGAGGCAGCGAAG	0.428000													4	36					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156882656	156882656	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156882656G>A	ENST00000338302.3	+	19	2529	c.2304G>A	c.(2302-2304)gtG>gtA	p.V768V	PEAR1_ENST00000292357.7_Silent_p.V768V			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	768						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTCCCTTGTGGTAGCCCTGG	0.587000													19	79					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11452352	11452352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11452352G>A	ENST00000423059.3	-	18	3864	c.3613C>T	c.(3613-3615)Cct>Tct	p.P1205S	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1205	TSP type-1 11.					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)		ACAGCATTAGGGCAAGATCTT	0.413000										HNSCC(18;0.044)			3	17					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156084789	156084789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156084789C>T	ENST00000368300.4	+	1	292	c.80C>T	c.(79-81)aCc>aTc	p.T27I	LMNA_ENST00000368299.3_Missense_Mutation_p.T27I|LMNA_ENST00000368301.2_Missense_Mutation_p.T27I|LMNA_ENST00000361308.4_Missense_Mutation_p.T27I|LMNA_ENST00000347559.2_Missense_Mutation_p.T27I	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	27	Head.|Interaction with MLIP.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACCCGCATCACCCGGCTGCAG	0.701000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				10	213					0	0	1	0	0
METTL2B	55798	broad.mit.edu	37	7	128133876	128133876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128133876C>T	ENST00000480046.1	+	5	608	c.493C>T	c.(493-495)Cct>Tct	p.P165S	METTL2B_ENST00000262432.8_Missense_Mutation_p.P230S			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	230							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGAATATGATCCTTCTCGGTG	0.358000													6	67					0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872631	136872631	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:136872631G>A	ENST00000409817.1	-	1	1182	c.879C>T	c.(877-879)gcC>gcT	p.A293A	CXCR4_ENST00000241393.3_Silent_p.A289A|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	289					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGAAAGCTAGGGCCTCGGTGA	0.498000													4	48					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918018	39918018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39918018C>T	ENST00000337304.2	+	2	1349	c.467C>T	c.(466-468)cCc>cTc	p.P156L	ATF4_ENST00000404241.2_Missense_Mutation_p.P156L|ATF4_ENST00000396680.1_Missense_Mutation_p.P156L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	156					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CAGGTTGCCCCCTTCACCTTC	0.527000													5	111					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2350101	2350101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2350101C>T	ENST00000301732.5	-	13	2216	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ABCA3_ENST00000382381.3_Missense_Mutation_p.E448K	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	506					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)				TCACTGTCTTCTTCCTCCTTC	0.557000													9	116					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739086	138739086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:138739086C>T	ENST00000329447.5	-	1	682	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	140										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCAGAATTCCAGCTCGACG	0.662000													5	37					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55141026	55141026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55141026C>T	ENST00000257290.5	+	12	2003	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	558					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTATGAAATTCGCTGGAGGGT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	47					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224643	248224643	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248224643T>C	ENST00000359959.3	+	1	660	c.660T>C	c.(658-660)gtT>gtC	p.V220V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGGCCGGGTTCTCCTTGCTG	0.493000													9	54					0	0	1	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198855	161198855	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161198855C>T	ENST00000367988.3	+	10	1166	c.897C>T	c.(895-897)ttC>ttT	p.F299F	TOMM40L_ENST00000545897.1_Silent_p.F265F|TOMM40L_ENST00000367987.1_Silent_p.F299F|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	299	Required for mitochondrial targeting (By similarity).				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCAACAGATTCCATTGTGGCT	0.572000													13	71					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178811	223178811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223178811C>T	ENST00000284476.6	+	8	4236	c.4072C>T	c.(4072-4074)Cac>Tac	p.H1358Y		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1358					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTTTTCCTCCACCCAGTGCA	0.512000													21	293					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46705836	46705836	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46705836G>A	ENST00000331343.7	-	2	165	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	POFUT2_ENST00000349485.5_Silent_p.L47L	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	47					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		ACGTCATACAGAAGATACCTG	0.562000													6	87					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985280	240985280	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:240985280C>T	ENST00000319423.4	-	1	209	c.210G>A	c.(208-210)gaG>gaA	p.E70E		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGTACCAGATCTCTAGGAAAG	0.552000													7	128					0	0	1	0	0
AHSP	51327	broad.mit.edu	37	16	31539475	31539475	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31539475G>A	ENST00000302312.4	+	2	118	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	5					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CTCTTCTTAAGGCCAATAAGG	0.478000													7	67					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932917	44932917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44932917C>T	ENST00000291187.4	-	6	2343	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E	ZNF229_ENST00000588931.1_Missense_Mutation_p.G680E|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GGGCTTTTTTCCCGTGTGGAC	0.507000													7	42					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243370	6243370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:6243370C>T	ENST00000400104.3	-	7	583	c.383G>A	c.(382-384)tGg>tAg	p.W128*	L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.W128*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.W128*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.W128*			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	128					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				AGCATTGGTCCAAAAATCATA	0.388000													5	53					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958475	21958475	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21958475C>T	ENST00000289921.7	+	12	1654	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	536										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TGACCGAGATCGTCAACAGGT	0.478000													5	23					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94746604	94746604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:94746604G>A	ENST00000399300.2	-	3	2248	c.2035C>T	c.(2035-2037)Cca>Tca	p.P679S	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	679							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCCTCTGGGGGCCGTCTC	0.627000													5	106					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14124359	14124359	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:14124359G>A	ENST00000589498.1	-	2	270	c.120C>T	c.(118-120)ctC>ctT	p.L40L	ZNF519_ENST00000590202.1_Silent_p.L40L|ZNF519_ENST00000589203.1_Intron			Q8TB69	ZN519_HUMAN	zinc finger protein 519	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCAGGGAGACGAGGTTTCTGT	0.413000													4	41					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657899	72657899	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72657899C>T	ENST00000425256.1	-	0	2012					NR_002164.1																						ggccaggtctcggatccaatc	0.478000													5	115					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269367	43269367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:43269367C>T	ENST00000372585.5	+	7	1093	c.998C>T	c.(997-999)tCa>tTa	p.S333L	SLC22A7_ENST00000372589.3_Missense_Mutation_p.S331L|SLC22A7_ENST00000372574.3_Missense_Mutation_p.S331L|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	333						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGAAGACCTTCATACCTAGAC	0.582000													5	33					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157118	14157118	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:14157118G>A	ENST00000263379.2	+	7	1046	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	307					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAGCTGGGAGCCTCTCACCA	0.602000													14	205					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42361077	42361077	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42361077G>A	ENST00000298119.4	+	4	3199	c.2010G>A	c.(2008-2010)agG>agA	p.R670R	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	670						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACACTAACAGGAACAACTCAA	0.453000										HNSCC(30;0.082)			5	38					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628021	71628021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:71628021C>T	ENST00000377276.2	-	1	1018	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	330	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCCTCGTAGTCGTCAAAGTTA	0.527000													5	67					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499563	36499563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36499563G>A	ENST00000342292.4	-	1	130	c.110C>T	c.(109-111)cCt>cTt	p.P37L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGAAGACAGAGGGGGCAGAGA	0.652000													9	42					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183195866	183195866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:183195866C>T	ENST00000264144.4	+	9	1165	c.1100C>T	c.(1099-1101)tCa>tTa	p.S367L	LAMC2_ENST00000493293.1_Missense_Mutation_p.S367L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	367	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACCCTGATTTCAGCCCGCCCT	0.502000													23	173					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110970077	110970077	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:110970077C>T	ENST00000394780.3	+	16	1782	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	ALG13_ENST00000251943.4_Silent_p.F486F|ALG13_ENST00000470971.1_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	590					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AGAAGATGTTCAAGAAAATTC	0.448000													15	25					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108489327	108489327	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:108489327T>G	ENST00000368983.3	+	1	101	c.97T>G	c.(97-99)Tcg>Gcg	p.S33A	NR2E1_ENST00000368986.4_Intron			Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CCCTTTAGGCTCGGGCCTACC	0.622000													6	15					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48680201	48680201	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48680201C>T	ENST00000352832.5	+	19	4239	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	CACNA1G_ENST00000510366.1_Silent_p.L1312L|CACNA1G_ENST00000514717.1_Silent_p.L1289L|CACNA1G_ENST00000442258.2_Silent_p.L1289L|CACNA1G_ENST00000502264.1_Silent_p.L1289L|CACNA1G_ENST00000507896.1_Silent_p.L1312L|CACNA1G_ENST00000507510.2_Silent_p.L1312L|CACNA1G_ENST00000507609.1_Silent_p.L1312L|CACNA1G_ENST00000416767.4_Silent_p.L1312L|CACNA1G_ENST00000507336.1_Silent_p.L1312L|CACNA1G_ENST00000360761.4_Silent_p.L1289L|CACNA1G_ENST00000514181.1_Silent_p.L1312L|CACNA1G_ENST00000358244.5_Silent_p.L1289L|CACNA1G_ENST00000515765.1_Silent_p.L1312L|CACNA1G_ENST00000359106.5_Silent_p.L1312L|CACNA1G_ENST00000505165.1_Silent_p.L1312L|CACNA1G_ENST00000514079.1_Silent_p.L1312L|CACNA1G_ENST00000513964.1_Silent_p.L1312L|CACNA1G_ENST00000429973.2_Silent_p.L1312L|CACNA1G_ENST00000512389.1_Silent_p.L1312L|CACNA1G_ENST00000513689.2_Silent_p.L1312L|CACNA1G_ENST00000515411.1_Silent_p.L1312L|CACNA1G_ENST00000354983.4_Silent_p.L1289L|CACNA1G_ENST00000510115.1_Silent_p.L1289L|CACNA1G_ENST00000515165.1_Silent_p.L1312L|CACNA1G_ENST00000503485.1_Silent_p.L1312L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1312					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTGACCCTCTCCAATTACA	0.587000													4	42					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026058	32026058	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32026058G>A	ENST00000375244.3	-	22	7803	c.7602C>T	c.(7600-7602)tcC>tcT	p.S2534S	TNXB_ENST00000375247.2_Silent_p.S2534S			P22105	TENX_HUMAN	tenascin XB	2594	Fibronectin type-III 17.				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						GCGAGTCAGGGGAGGATCCTG	0.677000													44	323					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159481683	159481683	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:159481683C>T	ENST00000389757.3	+	7	1022	c.897C>T	c.(895-897)ccC>ccT	p.P299P	PKP4_ENST00000389759.3_Silent_p.P299P	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	299					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCTCCAATCCCAACGGACCAA	0.622000										HNSCC(62;0.18)			4	16					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5964857	5964857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:5964857G>A	ENST00000378156.4	-	16	2228	c.1963C>T	c.(1963-1965)Cag>Tag	p.Q655*	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	655					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTCCTGGGCCACTCTG	0.547000													15	60					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193638	7193638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7193638G>A	ENST00000007699.5	-	5	739	c.676C>T	c.(676-678)Cca>Tca	p.P226S		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	226	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						AAGAAGGGTGGGGGGCACCAT	0.652000													16	156					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4534978	4534978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4534978C>T	ENST00000570836.1	-	15	2002	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ALOX15_ENST00000545513.1_Missense_Mutation_p.E658K|ALOX15_ENST00000293761.3_Missense_Mutation_p.E636K|ALOX15_ENST00000574640.1_Missense_Mutation_p.E597K			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	636	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATCTCAATTTCCTTATCCAGG	0.577000													8	132					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45456599	45456599	+	Missense_Mutation	SNP	G	G	A	rs144068587	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45456599G>A	ENST00000331493.2	+	14	1973	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.R425Q	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GCCAAGGAGCGAAGTTTTCCT	0.363000													6	36					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926469	6926469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6926469G>A	ENST00000312053.4	+	16	2116	c.2079G>A	c.(2077-2079)atG>atA	p.M693I	EMR1_ENST00000250572.8_Missense_Mutation_p.M628I|EMR1_ENST00000381404.4_Missense_Mutation_p.M641I|EMR1_ENST00000450315.3_Missense_Mutation_p.M516I|EMR1_ENST00000381407.5_Missense_Mutation_p.M552I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	693					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTTCTTGATGGTCAGAAACC	0.537000													6	97					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32017293	32017293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32017293C>T	ENST00000375244.3	-	28	9712	c.9511G>A	c.(9511-9513)Gag>Aag	p.E3171K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3169K			P22105	TENX_HUMAN	tenascin XB	3216	Fibronectin type-III 23.				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						ACTGTCAACTCCCCCAGGAGC	0.652000													56	357					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47113180	47113180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47113180C>T	ENST00000261292.4	+	9	1719	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	LIPG_ENST00000427224.2_Missense_Mutation_p.R407C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	481	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCTCTGGTTTCGCAAGTGTCG	0.507000													12	46					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925486	47925486	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47925486G>A	ENST00000289672.2	-	18	3053	c.3003C>T	c.(3001-3003)gcC>gcT	p.A1001A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1001	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGCTGAAGTGGCAGGTTGGC	0.602000													6	84					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365010	118365010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118365010C>T	ENST00000528052.1	+	12	1356	c.1285C>T	c.(1285-1287)Ctc>Ttc	p.L429F	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L429F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L429F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	429	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAATCCAACCCTCCCCAAAGT	0.428000													5	52					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178531	223178531	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:223178531C>T	ENST00000284476.6	+	8	3956	c.3792C>T	c.(3790-3792)ttC>ttT	p.F1264F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1264					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGTGTCACTTCTTCTCTCTGA	0.512000													58	431					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226578131	226578131	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:226578131G>A	ENST00000366794.5	-	4	740	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	199					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGACTCCTGGGAGCTGCTTCT	0.597000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	38					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74972117	74972117	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74972117G>A	ENST00000262144.6	-	8	712	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	194										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CCAGGCCATGGATTTTGGAGA	0.493000													6	72					0	0	1	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448544	45448544	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45448544G>A	ENST00000419266.2	+	3	406	c.366G>A	c.(364-366)ggG>ggA	p.G122G	APOC4_ENST00000592954.1_Silent_p.G122G|APOC4-APOC2_ENST00000589057.1_Intron|APOC4-APOC2_ENST00000436871.1_Silent_p.G122G																							TTGTCTGTGGGGACAAGGACC	0.567000													59	292					0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208841835	208841835	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208841835G>A	ENST00000457206.1	-	3	1513	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	PLEKHM3_ENST00000389247.4_Silent_p.I362I|PLEKHM3_ENST00000427836.2_Silent_p.I362I			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	362	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGATTTGAGGATGTTTTGGT	0.478000													6	56					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278176	74278176	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74278176G>A	ENST00000262765.5	-	8	3713	c.3534C>T	c.(3532-3534)atC>atT	p.I1178I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1178							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCTCTCAATGATCATCCTGA	0.637000													4	24					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57638321	57638321	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57638321G>T	ENST00000332782.2	-	9	1006	c.806_splice	c.e9+1	p.P269_splice	STAC3_ENST00000546246.2_Splice_Site_p.P83_splice|STAC3_ENST00000554578.1_Splice_Site_p.P230_splice	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	269	SH3 1.				intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GCCTCTCACGGGAAATCCAGA	0.587000													26	159					7.38237e-10	7.50746e-10	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78472121	78472121	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:78472121C>T	ENST00000258873.4	-	10	1460	c.1253_splice	c.e10-1	p.D419_splice	ACSBG1_ENST00000560817.1_Splice_Site_p.D177_splice|ACSBG1_ENST00000541759.1_Splice_Site_p.D177_splice	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	419					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GGCTTCAGGTCGCTGGTGGGA	0.493000													5	24					0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39727686	39727686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39727686C>T	ENST00000246662.4	-	1	624	c.559G>A	c.(559-561)Gat>Aat	p.D187N	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	187	Coil 1A.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCGTACCAATCCTGGATCTTA	0.488000													6	118					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544117	20544117	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20544117G>A	ENST00000504154.1	+	21	2396	c.2143_splice	c.e21-1	p.G715_splice	SLIT2_ENST00000503837.1_Splice_Site_p.G711_splice|SLIT2_ENST00000503823.1_Splice_Site_p.G707_splice|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000273739.5_Splice_Site_p.G719_splice	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	715					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCGATTTAGGAAATGATGAC	0.408000													5	55					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997267	46997267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46997267C>T	ENST00000599531.1	-	1	2488	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	486										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)		GCCAATACCTCCCCCAGTTTG	0.622000													10	98					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269273	20269273	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:20269273G>A	ENST00000245957.5	+	23	2893	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	939										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCTTCTGTGAGAAGAATGTGG	0.403000													14	87					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39905145	39905145	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39905145C>T	ENST00000564288.1	+	72	19197	c.18420C>T	c.(18418-18420)atC>atT	p.I6140I	MACF1_ENST00000289893.4_Silent_p.I4583I|MACF1_ENST00000317713.7_Silent_p.I4081I|MACF1_ENST00000361689.2_Silent_p.I4081I|MACF1_ENST00000567887.1_Silent_p.I6177I|MACF1_ENST00000545844.1_Silent_p.I4081I|MACF1_ENST00000539005.1_Silent_p.I3951I|MACF1_ENST00000372915.3_Silent_p.I6039I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6148					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)			ATCCTTCCATCATCAAACAAC	0.438000													6	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075298	9075298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9075298C>T	ENST00000397910.4	-	3	12351	c.12148G>A	c.(12148-12150)Gaa>Aaa	p.E4050K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4052	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTAATTTCTGTTCTAGGC	0.507000													9	46					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544334	53544334	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53544334C>T	ENST00000371500.3	+	10	1580	c.1239C>T	c.(1237-1239)acC>acT	p.T413T	PODN_ENST00000312553.5_Silent_p.T432T|PODN_ENST00000395871.2_Silent_p.T290T|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	384					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGCGCACCCTCATGATCC	0.622000													7	117					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96944950	96944950	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96944950G>A	ENST00000267584.4	+	15	1748	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	568					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)		TCGACGATGAGACTGTCTTCA	0.468000													4	63					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55719148	55719148	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:55719148C>T	ENST00000379906.2	+	4	993	c.738C>T	c.(736-738)atC>atT	p.I246I	SLC6A2_ENST00000566163.1_Silent_p.I246I|SLC6A2_ENST00000568943.1_Silent_p.I246I|SLC6A2_ENST00000567238.1_Silent_p.I141I|SLC6A2_ENST00000414754.3_Silent_p.I246I|SLC6A2_ENST00000219833.8_Silent_p.I246I|SLC6A2_ENST00000561820.1_Silent_p.I246I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	246					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCGTCGTCATCGTCTTGTATT	0.527000													6	70					0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780393	65780393	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65780393T>C	ENST00000312134.2	+	2	541	c.337T>C	c.(337-339)Tgc>Cgc	p.C113R		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	113					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						CCTCACCACTTGCCCCCTGGC	0.642000													4	40					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392330	45392330	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45392330G>A	ENST00000389039.6	-	24	3487	c.3102C>T	c.(3100-3102)ttC>ttT	p.F1034F	DUOX2_ENST00000603300.1_Silent_p.F1034F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1034	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTTCTCCACGAAGCGCTTGT	0.562000													7	38					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44079738	44079738	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44079738G>A	ENST00000272286.2	+	6	785	c.694_splice	c.e6-1	p.G232_splice		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	232	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTGGAAAGGAATCCTTATT	0.622000													83	214					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272223	44272223	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44272223G>A	ENST00000244571.4	-	13	1802	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	600					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCTCATGCAGGATGAAACCTC	0.602000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	43					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031367	33031367	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:33031367C>T	ENST00000340811.4	-	3	555	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PKP2_ENST00000070846.6_Silent_p.E149E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	149					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGGAGAAATCTCCAGTCTCC	0.567000													38	229					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100366352	100366352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:100366352C>T	ENST00000294724.4	+	26	4001	c.3523C>T	c.(3523-3525)Ctc>Ttc	p.L1175F	AGL_ENST00000370165.3_Missense_Mutation_p.L1175F|AGL_ENST00000370163.3_Missense_Mutation_p.L1175F|AGL_ENST00000370161.2_Missense_Mutation_p.L1159F|AGL_ENST00000361302.3_Missense_Mutation_p.L1159F|AGL_ENST00000361522.4_Missense_Mutation_p.L1158F|AGL_ENST00000361915.3_Missense_Mutation_p.L1175F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1175					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TCTAGACATTCTCAAGTGCCC	0.403000													9	127					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28209046	28209046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:28209046G>A	ENST00000344423.5	-	7	1330	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	ZNF395_ENST00000523095.1_Missense_Mutation_p.S400F|ZNF395_ENST00000523202.1_Missense_Mutation_p.S400F	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	400					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GTGCCAGAAGGACCCAGGAGC	0.612000													15	107					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43446795	43446795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:43446795G>A	ENST00000282041.5	-	38	6623	c.6589C>T	c.(6589-6591)Ctt>Ttt	p.L2197F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2197					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGAATAGAAAGGCCCGCAGAC	0.438000													8	98					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356643	10356643	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:10356643C>T	ENST00000255381.2	-	24	3047	c.2937G>A	c.(2935-2937)gtG>gtA	p.V979V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	979					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGAGGTTTTTCACCTTTAGAT	0.438000													7	93					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138108	48138108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48138108G>A	ENST00000311303.3	-	20	3190	c.2845C>T	c.(2845-2847)Cct>Tct	p.P949S	ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	949	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGACAGCAGGAAACACAGCA	0.478000													6	39					0	0	1	0	0
FXYD7	53822	broad.mit.edu	37	19	35642569	35642569	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35642569C>T	ENST00000270310.2	+	5	297	c.213C>T	c.(211-213)ccC>ccT	p.P71P	FXYD7_ENST00000588265.1_Silent_p.P108P|FXYD7_ENST00000586063.1_Silent_p.P68P	NM_022006.1	NP_071289.1	P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	71						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGAGCTTCCCTCTTCAGGTG	0.527000													7	61					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86076916	86076916	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:86076916G>T	ENST00000394518.2	+	4	378	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.E95*|AKAP13_ENST00000560302.1_Nonsense_Mutation_p.E95*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	95					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						CGTCCAGGATGAAGCGTATGA	0.493000													6	52					0.000157383	0.000159302	1	1	0
AKT2	208	broad.mit.edu	37	19	40739804	40739804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40739804G>A	ENST00000392038.2	-	14	1719	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	AKT2_ENST00000424901.1_Missense_Mutation_p.S474F|AKT2_ENST00000311278.6_Missense_Mutation_p.S431F	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	474	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGCCGAGTAGGAGAACTGGGG	0.622000			A		"""ovarian, pancreatic """								5	39					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720326	4720326	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4720326C>T	ENST00000263088.6	+	16	1808	c.1677C>T	c.(1675-1677)ttC>ttT	p.F559F	PLD2_ENST00000572940.1_Silent_p.F559F	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	559	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CCCGGCACTTCATCCAGCGCT	0.632000													5	49					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165649900	165649900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165649900G>A	ENST00000354775.4	-	5	917	c.613C>T	c.(613-615)Cct>Tct	p.P205S	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.P111S|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	181					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AAGGGAGAAGGTTTAAAGACC	0.468000													5	24					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810752	123810752	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123810752C>T	ENST00000307033.2	+	1	503	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTGTGCACTCCTTATGGCAG	0.522000													4	45					0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55826002	55826002	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:55826002G>A	ENST00000272313.5	-	4	798	c.471C>T	c.(469-471)atC>atT	p.I157I	SMEK2_ENST00000407823.3_Silent_p.I157I|SMEK2_ENST00000345102.5_Silent_p.I157I	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	157						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTTCCCTACGGATAGGTGAGG	0.433000													8	113					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3611705	3611705	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3611705G>A	ENST00000301749.7	-	0	2418				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTGTTACCTGATCTTCTGAA	0.617000													8	78					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150416401	150416401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150416401G>A	ENST00000389378.2	-	13	1933	c.1345C>T	c.(1345-1347)Ctc>Ttc	p.L449F	TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.L449F|TNIP1_ENST00000522226.1_Missense_Mutation_p.L449F|TNIP1_ENST00000521591.1_Missense_Mutation_p.L449F|TNIP1_ENST00000315050.7_Missense_Mutation_p.L449F|TNIP1_ENST00000520931.1_Missense_Mutation_p.L396F|TNIP1_ENST00000523200.1_Missense_Mutation_p.L449F|TNIP1_ENST00000523338.1_Missense_Mutation_p.L449F|TNIP1_ENST00000524280.1_Missense_Mutation_p.L449F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	449					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTAGGAGGGCCCCTGCT	0.572000													11	60					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297436	36297436	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36297436T>C	ENST00000301175.3	-	8	1142	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	375					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGCTTCACTCCGAAGGCCA	0.627000													9	97					0	0	1	0	0
SIRT6	51548	broad.mit.edu	37	19	4180901	4180901	+	Silent	SNP	G	G	A	rs34786277	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4180901G>A	ENST00000337491.2	-	2	136	c.72C>T	c.(70-72)ttC>ttT	p.F24F	SIRT6_ENST00000381935.3_Intron|SIRT6_ENST00000305232.6_Silent_p.F24F|SIRT6_ENST00000594279.1_5'UTR|SIRT6_ENST00000601488.1_Silent_p.F24F	NM_016539.2	NP_057623.2	Q8N6T7	SIRT6_HUMAN	sirtuin 6	24					chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGGGTCGAAGATCTGTG	0.632000													7	32					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168260458	168260458	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168260458C>T	ENST00000367821.3	+	2	315	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	88					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCATGTACTCCCTCCTGCTGG	0.557000													12	94					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701058	52701058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52701058C>T	ENST00000370989.1	-	4	406	c.248G>A	c.(247-249)gGg>gAg	p.G83E	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.G83E			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	83	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATGTCTTTCCCATAAAGGTT	0.448000													5	107					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570420	55570420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:55570420C>T	ENST00000373965.2	-	35	4793	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K	PCDH15_ENST00000395445.1_Missense_Mutation_p.E1467K|PCDH15_ENST00000395438.1_Missense_Mutation_p.M1483I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1464K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.M1094I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGGCATTTCATACCTGTAA	0.418000										HNSCC(58;0.16)			7	70					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82456558	82456558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82456558C>T	ENST00000370728.1	+	25	4754	c.4109C>T	c.(4108-4110)tCt>tTt	p.S1370F	LPHN2_ENST00000370723.1_Missense_Mutation_p.S1372F|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.S1385F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S1385F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S1342F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S1327F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S1314F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S1342F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S1327F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S1295F|LPHN2_ENST00000319517.6_Missense_Mutation_p.S1314F|LPHN2_ENST00000394879.1_Missense_Mutation_p.S1372F			O95490	LPHN2_HUMAN	latrophilin 2	1370					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AACAGAGACTCTCTTTATACA	0.517000													3	10					0	0	1	0	0
MFSD5	84975	broad.mit.edu	37	12	53646906	53646906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53646906C>T	ENST00000534842.1	+	2	755	c.608C>T	c.(607-609)tCc>tTc	p.S203F	MFSD5_ENST00000329548.4_Missense_Mutation_p.S96F	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	96					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGTGGCCTCCTCCCTTGTG	0.478000													30	292					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263103	42263103	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42263103C>T	ENST00000361204.4	+	2	523	c.357C>T	c.(355-357)acC>acT	p.T119T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	119	Gly/Pro/Ser-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTCTCCCACCTCAGTTCCCA	0.572000													20	100					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234545533C>T	ENST00000344644.5	+	1	434	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.S122L	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTATTTTTTTCGCATTGCAGG	0.363000													4	37					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118228050	118228050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:118228050G>A	ENST00000402510.2	-	9	1275	c.1276C>T	c.(1276-1278)Ctt>Ttt	p.L426F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	426										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACACTGGAAGGCCACGAATC	0.483000													5	4					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147000285	147000285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:147000285C>T	ENST00000265272.5	-	18	2553	c.2086G>A	c.(2086-2088)Ggc>Agc	p.G696S	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.G654S|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.G675S	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	696						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGATAGCCTTTTATTTTG	0.373000													9	29					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83948701	83948701	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83948701C>T	ENST00000262430.4	+	5	1108	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	363					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTAAGGAAATCTCGGAGATCA	0.542000													19	163					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209878	53209878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53209878G>A	ENST00000543227.1	-	6	704	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	ZNF611_ENST00000602162.1_Missense_Mutation_p.H75Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H75Y|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000540744.1_Missense_Mutation_p.H144Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.H144Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H75Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GCATGCCTGTGATCATGTTGG	0.393000													10	85					0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028151	38028151	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38028151C>T	ENST00000445217.1	+	4	626	c.591C>T	c.(589-591)ttC>ttT	p.F197F	ZNF793_ENST00000542455.1_Silent_p.F197F|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Silent_p.F197F|ZNF793_ENST00000589319.1_Intron			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAAGCTTTCACCCAGAACC	0.458000													4	25					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067449	3067449	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:3067449G>A	ENST00000400569.3	-	38	5202	c.4869C>T	c.(4867-4869)ttC>ttT	p.F1623F	MYOM1_ENST00000356443.4_Silent_p.F1623F|MYOM1_ENST00000261606.7_Silent_p.F1527F			P52179	MYOM1_HUMAN	myomesin 1	1623	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCCAGCCTCGAACTTGAGGT	0.582000													8	48					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4925047	4925047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:4925047C>T	ENST00000396658.4	+	14	3339	c.2636C>T	c.(2635-2637)tCc>tTc	p.S879F	UBN1_ENST00000590769.1_Missense_Mutation_p.S879F|UBN1_ENST00000545171.1_Missense_Mutation_p.S879F|UBN1_ENST00000262376.6_Missense_Mutation_p.S879F	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	879	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCAGCCTCGTCCTCTTCTGCC	0.572000													8	79					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206774	130206774	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130206774C>A	ENST00000342483.5	+	5	1201	c.795C>A	c.(793-795)acC>acA	p.T265T	ZNF79_ENST00000543471.1_Silent_p.T241T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAACCTCACCAAACACCAGC	0.517000													4	68					1	1	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128327391	128327391	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:128327391G>A	ENST00000389524.4	+	6	551	c.498G>A	c.(496-498)gaG>gaA	p.E166E	MYO7B_ENST00000428314.1_Silent_p.E166E|MYO7B_ENST00000409816.2_Silent_p.E166E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	166	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAAGACGGAGACCACCAAGC	0.557000													3	21					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276890	71276890	+	Missense_Mutation	SNP	C	C	T	rs36179995		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71276890C>T	ENST00000398531.1	+	1	282	c.257C>T	c.(256-258)tCc>tTc	p.S86F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	86	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCCTGTGGGGGC	0.687000													9	119					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618521	77618521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:77618521G>A	ENST00000521891.2	+	2	2646	c.2198G>A	c.(2197-2199)gGc>gAc	p.G733D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G733D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G733D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G733D|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	733						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCCAAAATGGCAATGGTGAG	0.522000										HNSCC(33;0.089)			4	17					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66802235	66802235	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66802235T>A	ENST00000393946.2	+	6	1316	c.154T>A	c.(154-156)Tct>Act	p.S52T	SYT12_ENST00000526281.1_Intron|SYT12_ENST00000527043.1_Missense_Mutation_p.S52T|SYT12_ENST00000525457.1_Missense_Mutation_p.S52T			Q8IV01	SYT12_HUMAN	synaptotagmin XII	52						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCCCAGCCCCTCTCCGTTCCC	0.632000													7	57					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585957	7585957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7585957C>T	ENST00000379802.3	+	24	8803	c.8462C>T	c.(8461-8463)tCg>tTg	p.S2821L	DSP_ENST00000418664.2_Missense_Mutation_p.S2222L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2821	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AACATGTCTTCGGCTCCGGGG	0.642000													9	115					0	0	1	0	0
RAB4B-EGLN2	100529264	broad.mit.edu	37	19	41289884	41289884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41289884C>T	ENST00000594136.1	+	5	439	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	MIA-RAB4B_ENST00000600729.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000594800.1_Missense_Mutation_p.P112S|RAB4B_ENST00000357052.2_Missense_Mutation_p.P112S																							CCTGGCCAGCCCCAACATCGT	0.622000													7	42					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518781	129518781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:129518781G>A	ENST00000276218.2	-	1	730	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	214						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGTCCGTGGGGATCGATAACC	0.517000													3	14					0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159680456	159680456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:159680456G>A	ENST00000393977.3	-	7	1522	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	CCNJL_ENST00000257536.7_Missense_Mutation_p.L365F|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	413						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGGTGGCGAGGCAGTGCCTG	0.602000													9	49					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949073	92949073	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92949073C>T	ENST00000532405.1	+	13	1531	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	SLC24A4_ENST00000298877.1_Silent_p.F418F|SLC24A4_ENST00000531433.1_Silent_p.F416F|SLC24A4_ENST00000393265.2_Silent_p.F371F|SLC24A4_ENST00000351924.5_Silent_p.F399F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	435						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCCTCATCTTCCTCCTGTGCG	0.587000													6	111					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41622176	41622176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41622176G>A	ENST00000331105.2	+	2	155	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	28					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						AGAGATAAGGGAAAGCTGCCT	0.562000													21	157					0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100717320	100717320	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:100717320C>T	ENST00000360820.2	+	11	1850	c.1413C>T	c.(1411-1413)atC>atT	p.I471I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	471					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GTCTAAACATCATTCCAACCT	0.343000													4	34					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229746	39229746	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229746G>A	ENST00000340369.3	-	2	1419	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	XIRP1_ENST00000396251.1_Silent_p.V397V|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	397							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GACCCACTTGGACCTTGTCTC	0.592000													19	159					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852806	22852806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22852806C>T	ENST00000404138.1	+	19	4148	c.3637C>T	c.(3637-3639)Cag>Tag	p.Q1213*	ZBTB40_ENST00000374651.4_Nonsense_Mutation_p.Q1101*|ZBTB40_ENST00000375647.4_Nonsense_Mutation_p.Q1213*	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1213					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCAGGCATCTCAGGCCAGCTC	0.607000													26	85					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53671347	53671347	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53671347C>T	ENST00000257934.4	+	10	2270	c.2179C>T	c.(2179-2181)Cgt>Tgt	p.R727C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R727C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	727					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCAGGAAGATCGTTTCCTATA	0.502000													7	72					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37411833	37411833	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37411833T>G	ENST00000373451.4	+	3	356	c.192T>G	c.(190-192)tcT>tcG	p.S64S		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		64					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AACACAGCTCTGACTCTTTTG	0.428000													10	60					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936589	4936589	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4936589G>A	ENST00000424747.1	-	4	1813	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	SLC52A1_ENST00000512825.2_Intron|SLC52A1_ENST00000254853.5_Silent_p.P367P	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	367						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCCCACCAGGGGTGGGCAGG	0.622000													9	82					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133036805	133036805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133036805C>T	ENST00000262283.5	-	18	2092	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	OC90_ENST00000254627.3_Missense_Mutation_p.E453K|OC90_ENST00000603859.1_Missense_Mutation_p.E453K|OC90_ENST00000443356.2_Missense_Mutation_p.E469K			Q02509	OC90_HUMAN	otoconin 90	469					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCGAGGTCCTCCTGTGGAGGG	0.622000													4	24					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35753777	35753777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35753777G>A	ENST00000440995.2	+	24	3367	c.3367G>A	c.(3367-3369)Gag>Aag	p.E1123K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E1128K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1128					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAGGCGGAGCAGGAGCG	0.498000													21	72					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609803	42609803	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42609803G>A	ENST00000359486.3	-	1	1645	c.1509C>T	c.(1507-1509)ggC>ggT	p.G503G	TCF20_ENST00000335626.4_Silent_p.G503G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTGTGAGGAGCCTTCAGAAT	0.512000													32	236					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200944007	200944007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:200944007G>A	ENST00000332129.2	-	33	4926	c.4610C>T	c.(4609-4611)gCc>gTc	p.A1537V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A1550V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1537V|KIF21B_ENST00000422435.2_Missense_Mutation_p.A1550V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1550					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GAAGGCCAGGGCGCACACCCA	0.642000													25	145					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46834690	46834690	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46834690G>A	ENST00000283296.7	-	13	2094	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	GPR116_ENST00000265417.7_Silent_p.F602F|GPR116_ENST00000545669.1_Silent_p.F31F|GPR116_ENST00000362015.4_Silent_p.F602F|GPR116_ENST00000456426.2_Silent_p.F460F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AACCCGTATGGAAAGTAACTT	0.403000													4	51					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1481878	1481878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:1481878G>A	ENST00000297508.7	-	7	1836	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L	MICALL2_ENST00000405088.4_Missense_Mutation_p.P342L	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	554						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTCTGGCTTCGGCCTGGAGCC	0.677000													10	124					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056845	1056845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:1056845C>T	ENST00000382251.3	+	5	1587	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.H420Y|DMRT2_ENST00000358146.2_Missense_Mutation_p.H420Y|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	420					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CCTTCAGGGTCATCAGGCTGT	0.562000													8	70					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44679805	44679805	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44679805C>T	ENST00000590089.1	+	7	757	c.390C>T	c.(388-390)ttC>ttT	p.F130F	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Silent_p.F130F|ZNF226_ENST00000454662.2_Silent_p.F130F			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AAGGTGATTTCCCTTACCAGG	0.383000													4	32					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7622070	7622070	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7622070C>T	ENST00000221249.6	+	30	3614	c.3183C>T	c.(3181-3183)taC>taT	p.Y1061Y	PNPLA6_ENST00000600737.1_Silent_p.Y1099Y|PNPLA6_ENST00000545201.2_Silent_p.Y1034Y|PNPLA6_ENST00000414982.3_Silent_p.Y1109Y|PNPLA6_ENST00000450331.3_Silent_p.Y1061Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1100	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTGGCGGTACGTGCGCGCCA	0.667000													8	58					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7675609	7675609	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7675609C>T	ENST00000446248.2	+	9	1106	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	CAMSAP3_ENST00000160298.4_Silent_p.A308A	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	308			P -> S (in dbSNP:rs3745358).		epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGATGCTGGCCGAGTTGTTCA	0.662000													9	139					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854452	53854452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53854452C>T	ENST00000458035.1	+	4	641	c.524C>T	c.(523-525)tCa>tTa	p.S175L	ZNF845_ENST00000595091.1_Missense_Mutation_p.S175L	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGTTGGTTTCAACATCCCAA	0.388000													6	55					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:101972234C>T	ENST00000543253.1	+	5	3356	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R813C|GPRASP2_ENST00000535209.1_Missense_Mutation_p.R813C	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCTGCATTTCGTGAATTTGA	0.358000													25	65					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17417237	17417237	+	Silent	SNP	G	G	A	rs146584228		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17417237G>A	ENST00000302539.4	-	35	4355	c.4230C>T	c.(4228-4230)atC>atT	p.I1410I	ABCC8_ENST00000389817.3_Silent_p.I1409I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1409	ABC transporter 2.			A -> R (in Ref. 2; AAB36699/AAB36700).	carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCAGTTTGGCGATGTCAATGC	0.632000													32	305					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729826	106729826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:106729826G>A	ENST00000299045.3	+	8	1151	c.977G>A	c.(976-978)gGa>gAa	p.G326E		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	326										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATGACAGATGGAGCACGTCTT	0.353000													3	13					0	0	1	0	0
AC079210.1	0	broad.mit.edu	37	17	66539854	66539854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:66539854C>A	ENST00000600820.1	+	1	486	c.113C>A	c.(112-114)tCg>tAg	p.S38*	FAM20A_ENST00000592554.1_Missense_Mutation_p.R243L|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR																							CTCCTCATCTCGCTGCTGTCT	0.522000													4	115					0.150653	0.151545	1	1	0
OR5H2	79310	broad.mit.edu	37	3	98001937	98001937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:98001937G>A	ENST00000355273.2	+	1	206	c.206G>A	c.(205-207)gGg>gAg	p.G69E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTTTTCTTGGGAGTTTAGCC	0.403000													7	79					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259041	150259041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150259041C>T	ENST00000290363.5	+	5	1282	c.833C>T	c.(832-834)tCc>tTc	p.S278F	C1orf51_ENST00000369094.1_Missense_Mutation_p.S190F|C1orf51_ENST00000369095.1_Missense_Mutation_p.S278F	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	278										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTACTATCTCCTTTAGCCAT	0.557000													20	84					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076096	11076096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11076096C>T	ENST00000403050.3	+	9	2106	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.R267*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	552							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAACTAGCTCGATCTACCAG	0.433000													3	11					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333147	42333147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:42333147C>T	ENST00000262418.6	-	14	1849	c.1694G>A	c.(1693-1695)gGc>gAc	p.G565D		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	565	Involved in anion transport.|Membrane (anion exchange).		G -> A (in WU antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGCAGGGGGCCCTGAGGTTT	0.522000													15	145					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3990604	3990604	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:3990604G>T	ENST00000404826.2	+	6	1036	c.897G>T	c.(895-897)ccG>ccT	p.P299P	SDK1_ENST00000389531.3_Silent_p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	299	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.P299P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522000													4	47					1	1	1	1	0
ANK1	286	broad.mit.edu	37	8	41552702	41552702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41552702C>T	ENST00000396942.1	-	27	3191	c.3108G>A	c.(3106-3108)atG>atA	p.M1036I	ANK1_ENST00000379758.2_Missense_Mutation_p.M1036I|ANK1_ENST00000396945.1_Missense_Mutation_p.M1036I|ANK1_ENST00000289734.7_Missense_Mutation_p.M1036I|ANK1_ENST00000347528.4_Missense_Mutation_p.M1036I|ANK1_ENST00000352337.4_Missense_Mutation_p.M1036I|ANK1_ENST00000265709.8_Missense_Mutation_p.M1077I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1036					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TACCTTCGTCCATCCCGTTGA	0.602000													18	207					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878141	2878141	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878141G>A	ENST00000586426.1	+	4	1269	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E	ZNF556_ENST00000307635.2_Silent_p.E395E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTGGGGAGAAACCTGTAA	0.433000													7	85					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8167502	8167502	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:8167502C>T	ENST00000402384.3	-	13	1597		c.e13+1		ICA1_ENST00000396675.3_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000422063.2_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ACCTTACCTACCTTGTAGCGA	0.423000													10	134					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48210901	48210901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:48210901G>A	ENST00000394747.1	-	24	3821	c.3472C>T	c.(3472-3474)Ctt>Ttt	p.L1158F	ABCC11_ENST00000353782.5_Missense_Mutation_p.L1158F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L1158F|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.L1158F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1158	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGCCGTGAAGCACGGTGGGT	0.572000													5	17					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105937	72105937	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72105937G>A	ENST00000398840.2	+	0	1145							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GACCCCCACGGAGTTTGCCTG	0.607000													6	40					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030346	6030346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6030346C>T	ENST00000356134.5	-	3	453	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	ANO2_ENST00000546188.1_Missense_Mutation_p.G128S|ANO2_ENST00000327087.8_Missense_Mutation_p.G128S	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	132						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGCTCCTTGCCTGTCTCCCCA	0.617000													5	21					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89616112	89616112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89616112C>T	ENST00000294671.2	-	6	910	c.772G>A	c.(772-774)Gat>Aat	p.D258N		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	258						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AAATTACTATCCAGTTGGTCT	0.408000													3	18					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50685828	50685828	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:50685828G>A	ENST00000403097.1	-	9	1548	c.768C>T	c.(766-768)ttC>ttT	p.F256F	GRB10_ENST00000402578.1_Silent_p.F204F|GRB10_ENST00000398810.2_Silent_p.F204F|GRB10_ENST00000439599.1_Silent_p.F256F|GRB10_ENST00000357271.5_Silent_p.F262F|GRB10_ENST00000398812.2_Silent_p.F262F|GRB10_ENST00000407526.1_Silent_p.F204F|GRB10_ENST00000401949.1_Silent_p.F262F|GRB10_ENST00000406641.1_Silent_p.F204F|GRB10_ENST00000402497.1_Silent_p.F204F|GRB10_ENST00000335866.3_Silent_p.F204F			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	262					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TCTGTTCTGGGAAGAAATTCT	0.383000									Russell-Silver syndrome				8	29					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91843226	91843226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:91843226G>A	ENST00000394507.1	-	17	2581	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C	KRIT1_ENST00000340022.2_Missense_Mutation_p.R600C|KRIT1_ENST00000394505.2_Missense_Mutation_p.R600C|KRIT1_ENST00000412043.2_Missense_Mutation_p.R600C|KRIT1_ENST00000394503.2_Missense_Mutation_p.R552C	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	600	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGTATGCGATTTGTCCAG	0.323000													4	56					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228487091	228487091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228487091G>A	ENST00000570156.2	+	50	13416	c.13342G>A	c.(13342-13344)Ggg>Agg	p.G4448R	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1138R|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3491	Ig-like 46.				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)				TCTCAGAGATGGGGACAAATA	0.567000													5	46					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37619923	37619923	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37619923C>T	ENST00000434837.2	-	7	2354	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	MDGA1_ENST00000505425.1_Silent_p.E392E|MDGA1_ENST00000297153.7_Silent_p.E392E	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	392	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGCGGGCAGCTCAGGATCAT	0.602000													11	73					0	0	1	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638183	234638183	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234638183G>A	ENST00000482026.1	+	1	430	c.411G>A	c.(409-411)ctG>ctA	p.L137L	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ATGAGGCCCTGATCAGGCACC	0.433000													9	163					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33990641	33990641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33990641G>A	ENST00000373381.4	-	66	10413	c.10237C>T	c.(10237-10239)Cct>Tct	p.P3413S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3269						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACATCCCCAGGAACTAGAGGA	0.507000													37	117					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72892138	72892138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:72892138G>A	ENST00000264839.7	+	6	964	c.964G>A	c.(964-966)Ggg>Agg	p.G322R	RIMS1_ENST00000522291.1_Missense_Mutation_p.G322R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G322R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G322R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G322R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G322R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G322R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G322R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	322					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTTGAGAAAGGGCGATCACA	0.577000													3	16					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480946	20480946	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20480946G>A	ENST00000573854.1	+	4	615	c.501G>A	c.(499-501)gtG>gtA	p.V167V	ACSM2A_ENST00000575690.1_Silent_p.V167V|ACSM2A_ENST00000417235.2_Silent_p.V88V|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.V167V|ACSM2A_ENST00000396104.2_Silent_p.V167V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.V167V	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	167					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCAAGAAGTGGACACAGTGG	0.453000													9	54					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183673091	183673091	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:183673091C>T	ENST00000511685.1	+	20	3891	c.3768C>T	c.(3766-3768)gtC>gtT	p.V1256V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.V1256V					teneurin transmembrane protein 3																		ATGCAGAAGTCGTCGCAGGGA	0.537000													9	33					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111691128	111691128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:111691128C>T	ENST00000389811.4	+	12	1192	c.968C>T	c.(967-969)tCg>tTg	p.S323L	ACOXL_ENST00000439055.1_Missense_Mutation_p.S323L			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	323					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AACAGTCGCTCGCTGCAGGCT	0.627000													4	42					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540298	187540298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:187540298G>A	ENST00000441802.2	-	10	7651	c.7442C>T	c.(7441-7443)aCt>aTt	p.T2481I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2481	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCAATTACAGTTACATGAAC	0.478000										HNSCC(5;0.00058)			44	174					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175457	207175457	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:207175457A>G	ENST00000374423.3	+	5	6591	c.6205A>G	c.(6205-6207)Ata>Gta	p.I2069V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2069							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTGAGTGTAATAGTACCAGA	0.368000													3	25					0	0	1	0	0
AGAP5	729092	broad.mit.edu	37	10	75457446	75457446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75457446G>A	ENST00000443782.2	-	1	193	c.68C>T	c.(67-69)tCg>tTg	p.S23L	AGAP5_ENST00000374094.4_Missense_Mutation_p.S23L|RP11-464F9.1_ENST00000399449.3_RNA			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGGACACACCGACCCCTGTTG	0.607000													9	111					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179170945	179170945	+	Missense_Mutation	SNP	C	C	T	rs77535912		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179170945C>T	ENST00000190611.4	+	3	410	c.34C>T	c.(34-36)Cat>Tat	p.H12Y	OSBPL6_ENST00000409631.1_Missense_Mutation_p.H12Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.H12Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.H12Y|OSBPL6_ENST00000409045.3_Missense_Mutation_p.H12Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.H12Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	12					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCCCTGCTCATAAAACATC	0.453000													5	45					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103372	52103372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:52103372G>A	ENST00000361781.2	-	7	1462	c.503C>T	c.(502-504)cCa>cTa	p.P168L	SGMS1_ENST00000361543.2_Missense_Mutation_p.P168L|SGMS1_ENST00000429490.1_Intron	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	174				P -> L (in Ref. 3; AAQ82051).	apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTCCGGTAGTGGAGGCTGCAC	0.458000													4	23					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27244400	27244400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27244400G>A	ENST00000577226.1	-	7	1383	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	PHF12_ENST00000268756.3_Missense_Mutation_p.S346L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Missense_Mutation_p.S346L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	346	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GACATGCTGCGAAACGGTGTC	0.517000													7	63					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134517	96134517	+	RNA	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:96134517A>T	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		TTTCAAATTAAGCCTTCCTGC	0.443000			T	TRA@	T-ALL								15	62					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845319	101845319	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:101845319C>T	ENST00000360264.3	+	18	2795	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S	CUX1_ENST00000556210.1_Silent_p.S756S|CUX1_ENST00000550008.2_Silent_p.S858S|CUX1_ENST00000549414.2_Silent_p.S892S|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.S812S|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292535.7_Silent_p.S914S|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	914					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCATCCTCCCCGATCGTGC	0.657000													10	80					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45724598	45724598	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45724598G>A	ENST00000297323.7	+	12	2026	c.2004G>A	c.(2002-2004)acG>acA	p.T668T		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	668					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGTGCCTGACGATTCAGATTC	0.433000													7	225					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201460056	201460056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:201460056G>A	ENST00000374700.2	+	3	406	c.165G>A	c.(163-165)atG>atA	p.M55I		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	55	2Fe-2S ferredoxin-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTACAGTGATGATATCACGAT	0.398000													7	17					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39623286	39623286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39623286C>T	ENST00000225899.3	-	1	395	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	98	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TGCATGGTTTCCTTCTCATTG	0.607000													14	102					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13651119	13651119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:13651119G>A	ENST00000361306.1	+	12	1824	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	EGFL6_ENST00000380602.3_Missense_Mutation_p.E524K	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	523	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.E523*(1)|p.E524*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TTTTGAAGCAGAACGTGGCAA	0.373000													14	37					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152841653	152841653	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152841653T>A	ENST00000367255.5	-	6	851	c.250A>T	c.(250-252)Aag>Tag	p.K84*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.K84*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.K84*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.K84*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.K84*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.K84*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.K84*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.K84*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.K84*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	84	Actin-binding.|CH 1.				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)		TGGATTCGCTTCATCCGGCGT	0.398000										HNSCC(10;0.0054)			4	22					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1005638	1005638	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:1005638G>A	ENST00000537687.1	+	24	7408	c.6765G>A	c.(6763-6765)aaG>aaA	p.K2255K	WNK1_ENST00000535572.1_Silent_p.K1747K|WNK1_ENST00000530271.2_Silent_p.K2493K|WNK1_ENST00000315939.6_Silent_p.K1995K|WNK1_ENST00000340908.4_Silent_p.K1588K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1995					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGATACCAAAGAAAGAGAAGC	0.468000													12	62					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137729219	137729219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:137729219G>A	ENST00000183605.5	+	1	378	c.152G>A	c.(151-153)aGg>aAg	p.R51K	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	51					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GGGCTCTGGAGGAGCTGCGTG	0.637000													7	46					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961123	127961123	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:127961123C>T	ENST00000335247.7	-	2	133	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP27C1_ENST00000409327.1_Start_Codon_SNP_p.M1I	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	1						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		ATACGCTTCTCATCTTGAGCC	0.383000													16	74					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77516015	77516015	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:77516015C>T	ENST00000477717.1	+	4	979	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	248					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GTGACAGGATCAATGTTTATG	0.428000													6	97					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762161	53762161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53762161G>A	ENST00000341702.3	+	1	617	c.533G>A	c.(532-534)gGa>gAa	p.G178E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	178					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTGTCCATTGGAAGCACCTGC	0.468000													6	26					0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56332314	56332314	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56332314C>T	ENST00000262290.4	+	9	1564	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	LPO_ENST00000421678.2_Silent_p.I333I|LPO_ENST00000543544.1_Silent_p.I357I|LPO_ENST00000582328.1_Silent_p.I333I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	416					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCCGGAAAATCCTGGGAGCCT	0.602000													25	73					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52523677	52523677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52523677C>T	ENST00000345716.4	+	17	3573	c.3439C>T	c.(3439-3441)Cac>Tac	p.H1147Y	NISCH_ENST00000479054.1_Missense_Mutation_p.H1147Y	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1147					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGAGCTCTTCCACAGCAGCAT	0.672000													9	62					0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37622190	37622190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37622190G>A	ENST00000434837.2	-	6	2020	c.842C>T	c.(841-843)cCa>cTa	p.P281L	MDGA1_ENST00000505425.1_Missense_Mutation_p.P281L|MDGA1_ENST00000297153.7_Missense_Mutation_p.P281L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	281	Ig-like 3.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CAGGGGCAGTGGGCCAGGCCC	0.637000													4	32					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877702	27877702	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:27877702G>A	ENST00000374011.2	-	6	1893	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	AHDC1_ENST00000247087.5_Silent_p.L309L|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	309	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGGCCCGGCAGCCCCAGAGGA	0.687000													12	21					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36615118	36615118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36615118G>A	ENST00000311485.3	-	2	762	c.601C>T	c.(601-603)Cag>Tag	p.Q201*		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	201					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AGCCCATCCTGAAGTTCTGGA	0.418000									Familial Hemophagocytic Lymphohistiocytosis				5	41					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947468	237947468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237947468C>T	ENST00000366574.2	+	90	12773	c.12456C>T	c.(12454-12456)atC>atT	p.I4152I	RYR2_ENST00000360064.6_Silent_p.I4158I|RYR2_ENST00000542537.1_Silent_p.I4136I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4152					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTGAAATCAGTGAGTCCA	0.502000													5	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238062	21238062	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21238062G>A	ENST00000233242.1	-	23	3706	c.3579C>T	c.(3577-3579)ttC>ttT	p.F1193F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1193					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATCCACAGGGAAATTGGAAG	0.408000													150	349					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755020	1755020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:1755020C>T	ENST00000397196.2	+	5	914	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.L228F|WNT5B_ENST00000310594.3_Missense_Mutation_p.L228F	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	228					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCCTGCAGCCTCAAGACCTG	0.627000													12	60					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354212	17354212	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:17354212C>T	ENST00000511821.1	+	0	101				FTH1P10_ENST00000401830.3_RNA																							ACATTTTTTTCCAAATGTAAT	0.458000													6	115					0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881029	40881029	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40881029C>T	ENST00000539317.1	+	7	610	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	219					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CTGTTCCATCCCCTTCTTCTT	0.448000													7	180					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132205	57132205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57132205G>A	ENST00000296318.7	-	12	1614	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	IL17RD_ENST00000463523.1_Missense_Mutation_p.S365F|IL17RD_ENST00000427856.2_Missense_Mutation_p.S485F|IL17RD_ENST00000320057.5_Missense_Mutation_p.S365F	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	509	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GTGCAAGTGGGAACAGAGCTG	0.582000													7	26					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38917675	38917675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:38917675G>A	ENST00000274276.3	+	10	1715	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	438	Fibronectin type-III 2.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATGTCTGGAGAATTGTGAGC	0.398000													4	60					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104249	5104249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:5104249C>T	ENST00000396912.1	+	5	1681	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.L388F|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	388					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CAAGTCTGCTCTCAGTGACCA	0.463000													8	67					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515279	44515279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44515279C>T	ENST00000429154.2	+	5	1316	c.1088C>T	c.(1087-1089)cCa>cTa	p.P363L		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAAACCATACAGATGT	0.438000													8	36					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38429504	38429504	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:38429504C>T	ENST00000356264.2	-	20	2096	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPH_ENST00000325590.5_Silent_p.V585V|AMPH_ENST00000428293.2_Silent_p.V585V	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	627	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GCAGTGTTTCCACCTGCAGAA	0.433000													9	87					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603572	37603572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37603572C>T	ENST00000328544.3	-	2	804	c.271G>A	c.(271-273)Gag>Aag	p.E91K	SSTR3_ENST00000402501.1_Missense_Mutation_p.E91K	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	91					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						ATGAAGAGCTCGTCGGCCAGC	0.652000													17	77					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50759401	50759401	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:50759401C>T	ENST00000300589.2	+	10	2989	c.2882_splice	c.e10-1	p.L962_splice		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	962					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTCACCAGCCTGGAGGAGAA	0.413000													7	61					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111938890	111938890	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:111938890C>T	ENST00000374566.3	-	25	3091	c.2574G>A	c.(2572-2574)gaG>gaA	p.E858E		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	858						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGAGACGGTCTCTGTCAAAG	0.552000													5	38					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19494939	19494939	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19494939C>T	ENST00000407835.1	+	12	1111	c.855C>T	c.(853-855)tcC>tcT	p.S285S	CDC45_ENST00000437685.2_Silent_p.S317S|CDC45_ENST00000263201.1_Silent_p.S285S|CDC45_ENST00000404724.3_Silent_p.S239S			O75419	CDC45_HUMAN	cell division cycle 45	285					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AGCACTGGTCCCTCCATGACA	0.607000													21	103					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151829	158151829	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151829G>A	ENST00000368171.3	+	4	835	c.336G>A	c.(334-336)ttG>ttA	p.L112L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	112					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAGATCCCTTGGAGCTCCAGG	0.463000													27	122					0	0	1	0	0
RGR	5995	broad.mit.edu	37	10	86008712	86008712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:86008712C>T	ENST00000359452.4	+	3	321	c.283C>T	c.(283-285)Cac>Tac	p.H95Y	RGR_ENST00000372092.3_Missense_Mutation_p.S78L|RGR_ENST00000358110.5_Missense_Mutation_p.H91Y	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	91					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCCAGGCTCACGGCTTCCA	0.627000													5	54					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412655	50412655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50412655G>A	ENST00000596217.1	-	2	2297	c.410C>T	c.(409-411)cCc>cTc	p.P137L	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597723.1_Missense_Mutation_p.P137L|NUP62_ENST00000422090.2_Missense_Mutation_p.P137L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.P137L|NUP62_ENST00000413454.1_Missense_Mutation_p.P137L|NUP62_ENST00000352066.3_Missense_Mutation_p.P137L			P37198	NUP62_HUMAN	nucleoporin 62kDa	137	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAAGCCGGTGGGTGCTGTGCC	0.627000													8	64					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408527	2408527	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2408527G>A	ENST00000381223.4	-	2	437	c.234C>T	c.(232-234)ttC>ttT	p.F78F	ZBED1_ENST00000381222.2_Silent_p.F78F|ZBED1_ENST00000381218.3_Silent_p.F78F|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	78						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTCTTGACGAACTCGCAGA	0.622000													8	110					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329814	8329814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8329814G>A	ENST00000359286.4	+	5	627	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		ATGTGAAAAGGCCTATACTAA	0.388000													8	110					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785745	140785745	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785745C>T	ENST00000370515.3	-	2	504	c.171G>A	c.(169-171)agG>agA	p.R57R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTTAAAGTTCCTCCTGTAGC	0.483000													14	154					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958030	92958030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92958030C>T	ENST00000532405.1	+	15	1785	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	SLC24A4_ENST00000298877.1_Missense_Mutation_p.S503F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S501F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S456F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.S484F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	520						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATGGCAGTCTCCAACACCATA	0.468000													14	84					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397292	51397292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51397292C>T	ENST00000327536.5	-	1	181	c.82G>A	c.(82-84)Gga>Aga	p.G28R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	28										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCTGCATATCCGTTGACCCAC	0.522000													22	53					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898189	30898189	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30898189C>T	ENST00000375712.3	+	2	776	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	203	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCGTTCTGTCGGTGCTACCA	0.493000													4	32					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63979141	63979141	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63979141C>T	ENST00000279227.5	+	6	803	c.708C>T	c.(706-708)ctC>ctT	p.L236L	FERMT3_ENST00000345728.5_Silent_p.L236L	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	236	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCGGTGTCTCATGCAGCAGG	0.672000													14	71					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705835	35705835	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35705835G>A	ENST00000373866.3	+	2	217	c.195G>A	c.(193-195)cgG>cgA	p.R65R	ARMC12_ENST00000288065.2_Silent_p.R92R|ARMC12_ENST00000373869.3_Silent_p.R65R			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	65							binding										GGCACGGGCGGGACTCAGGTG	0.567000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	70					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805433	125805433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125805433G>A	ENST00000346248.5	-	2	938	c.296C>T	c.(295-297)tCt>tTt	p.S99F	CHST15_ENST00000435907.1_Missense_Mutation_p.S99F|CHST15_ENST00000421115.1_Missense_Mutation_p.S99F	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	99					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGGGCCCCAGAAAGGATGTA	0.488000													15	70					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55243226	55243226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:55243226C>T	ENST00000251091.5	+	9	2053	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	SAMD4A_ENST00000554335.1_Missense_Mutation_p.S671F|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S671F|SAMD4A_ENST00000555192.1_Missense_Mutation_p.S262F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S670F	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	671					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GTGCACACTTCCCCACAGAAC	0.612000													27	145					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518338	84518338	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:84518338G>A	ENST00000331369.5	+	0	532																											CATTTGTGAAGAAAAATGTTC	0.448000													6	59					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5353595	5353595	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:5353595G>A	ENST00000225296.3	-	10	1856	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	DHX33_ENST00000433302.3_Silent_p.F328F	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	552						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGGATATGAACTTCTTGC	0.542000													15	163					0	0	1	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874579	45874579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:45874579G>A	ENST00000296135.6	-	5	593	c.419C>T	c.(418-420)cCa>cTa	p.P140L	LZTFL1_ENST00000539217.1_Missense_Mutation_p.P136L|LZTFL1_ENST00000536047.1_Missense_Mutation_p.P123L|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	140										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTCATTAAGTGGAGCAAGTTT	0.373000													4	72					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580206	140580206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140580206G>A	ENST00000354757.3	+	1	859	c.859G>A	c.(859-861)Gat>Aat	p.D287N	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		287	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCCTCAGAAGATATTCGCAA	0.368000													11	94					0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784811	116784811	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:116784811G>A	ENST00000368605.1	+	3	986	c.891G>A	c.(889-891)gtG>gtA	p.V297V	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Silent_p.V125V	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	297						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GAGATACGGTGATTCCTGTTC	0.373000													17	152					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067337	103067337	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103067337T>C	ENST00000264260.2	+	11	1829	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Y272H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	414	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTTCGTATCCTATGCAAAATG	0.338000													6	65					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356962	220356962	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220356962G>A	ENST00000312358.7	+	40	9723	c.9591G>A	c.(9589-9591)aaG>aaA	p.K3197K	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3197	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTTGCGAAAGGTTCTCTCTG	0.612000													8	39					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24809157	24809157	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:24809157G>A	ENST00000376451.2	+	6	1592	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	KIAA1217_ENST00000376454.3_Silent_p.V761V|KIAA1217_ENST00000396445.1_Silent_p.V444V|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Silent_p.V444V|KIAA1217_ENST00000376462.1_Silent_p.V681V|KIAA1217_ENST00000396446.1_Silent_p.V444V|KIAA1217_ENST00000458595.1_Silent_p.V726V|KIAA1217_ENST00000376452.3_Silent_p.V726V			Q5T5P2	SKT_HUMAN	KIAA1217	761					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGCGTCAAGTGGGAGAGGCTG	0.522000													18	103					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676356	11676356	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:11676356C>T	ENST00000423059.3	-	2	674	c.423G>A	c.(421-423)gaG>gaA	p.E141E	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	141						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)		CAAGAGGTTTCTCTAGGCTTT	0.463000										HNSCC(18;0.044)			4	45					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	G	A	rs151037028		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46826469G>A	ENST00000283296.7	-	17	3459	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_ENST00000265417.7_Silent_p.I1057I|GPR116_ENST00000545669.1_Silent_p.I486I|GPR116_ENST00000362015.4_Silent_p.I1057I|GPR116_ENST00000456426.2_Silent_p.I915I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000													5	50					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165533028	165533028	+	Silent	SNP	G	G	A	rs148593286	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165533028G>A	ENST00000294818.1	+	2	1199	c.909G>A	c.(907-909)acG>acA	p.T303T	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	303						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					AAACCCAGACGAGCTCGGTCC	0.567000													15	88					0	0	1	0	0
TEX261	113419	broad.mit.edu	37	2	71215823	71215823	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71215823G>A	ENST00000272438.4	-	6	685	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TEX261_ENST00000466731.1_5'UTR|AC007040.11_ENST00000606025.1_Intron	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	166						integral to membrane				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGCCTTTGGTGAAATAATTGG	0.493000													4	77					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394934	94394934	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94394934G>A	ENST00000267594.5	+	3	796	c.489G>A	c.(487-489)agG>agA	p.R163R	FAM181A_ENST00000557000.2_Silent_p.R101R|FAM181A_ENST00000557719.1_Silent_p.R101R|FAM181A_ENST00000556222.1_Silent_p.R101R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	163										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						AGGTGCTGAGGAACCCCTACA	0.632000													9	63					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228464220	228464220	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228464220A>G	ENST00000570156.2	+	26	7489	c.7415A>G	c.(7414-7416)gAg>gGg	p.E2472G	OBSCN_ENST00000284548.11_Missense_Mutation_p.E2097G|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2097G|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E944G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1463	Ig-like 24.				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)				GCTACCATGGAGGTGCAGCTG	0.701000													8	63					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75439132	75439132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:75439132C>T	ENST00000526712.1	+	3	1120	c.347C>T	c.(346-348)tCc>tTc	p.S116F	MOGAT2_ENST00000198801.5_Missense_Mutation_p.S198F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	198					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGGCCTGGATCCTTCACGCTG	0.582000													4	37					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310494	57310494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57310494G>A	ENST00000457912.1	+	2	433	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E127K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E127K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	127										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						AGAGGCTGAGGAAAAGGAGAG	0.512000													4	6					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156679616	156679616	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156679616G>A	ENST00000422843.3	+	17	1943		c.e17-1		ITK_ENST00000519749.1_Splice_Site	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase						cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTCTCCAGAGACCAGAAG	0.463000			T	SYK	peripheral T-cell lymphoma								20	155					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16280540	16280540	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16280540G>C	ENST00000269878.4	-	3	148	c.99C>G	c.(97-99)cgC>cgG	p.R33R	CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	33							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GGTCCTGGTAGCGATAGAAGA	0.572000													7	23					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951713	130951713	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:130951713G>A	ENST00000312988.7	-	4	802	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	234					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGGAGGACACGATCTGCCCAA	0.557000													9	102					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026277	43026277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43026277C>T	ENST00000161559.6	-	3	636	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Missense_Mutation_p.E168K|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.E168K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.E168K|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Missense_Mutation_p.E128K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.E168K|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.E168K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	168	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTCTCAGGTTCACAGGTGAAG	0.557000													16	180					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26431630	26431630	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:26431630T>C	ENST00000342320.4	+	9	1172	c.996T>C	c.(994-996)ccT>ccC	p.P332P	RBPJ_ENST00000507561.1_Silent_p.P311P|RBPJ_ENST00000504907.1_Silent_p.P332P|RBPJ_ENST00000345843.3_Silent_p.P331P|RBPJ_ENST00000361572.6_Silent_p.P346P|RBPJ_ENST00000342295.1_Silent_p.P346P|RBPJ_ENST00000355476.3_Silent_p.P332P|RBPJ_ENST00000348160.4_Silent_p.P333P			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	346					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GAATGGGCCCTGTCCTTGCCC	0.483000													3	19					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063714	3063714	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3063714C>T	ENST00000445369.2	+	1	1258	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	117					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						AGGCCCGTATCGTGCTCACCG	0.647000													9	111					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133742	167133742	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:167133742G>A	ENST00000303354.6	-	16	2968	c.2628C>T	c.(2626-2628)atC>atT	p.I876I	SCN9A_ENST00000409672.1_Silent_p.I864I|SCN9A_ENST00000409435.1_Silent_p.I875I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.I876I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	875						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TGAAGACGATGATGGCCAACA	0.463000													4	35					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329122	3329122	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3329122C>T	ENST00000378398.3	+	10	2446	c.2364C>T	c.(2362-2364)ccC>ccT	p.P788P	PRDM16_ENST00000378391.2_Silent_p.P787P|PRDM16_ENST00000511072.1_Silent_p.P788P|PRDM16_ENST00000442529.2_Silent_p.P787P|PRDM16_ENST00000441472.2_Silent_p.P787P|PRDM16_ENST00000514189.1_Silent_p.P788P|PRDM16_ENST00000270722.5_Silent_p.P787P|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	787	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATCCTGCCCATGCCCAAGG	0.711000			T	EVI1	"""MDS, AML"""								14	36					0	0	1	0	0
NRBP2	340371	broad.mit.edu	37	8	144919435	144919435	+	Silent	SNP	G	G	A	rs138709296		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144919435G>A	ENST00000442628.2	-	13	1252	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	NRBP2_ENST00000327830.5_Silent_p.F128F	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	371					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CATCCTCCAGGAATTTGTCCA	0.612000													9	32					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967848	4967848	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4967848G>A	ENST00000380373.2	-	1	508	c.483C>T	c.(481-483)ttC>ttT	p.F161F	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	161					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)		AAGTGAAAGGGAAGGGAAGAA	0.433000													6	91					0	0	1	0	0
C20orf112	140688	broad.mit.edu	37	20	31041211	31041211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31041211C>T	ENST00000359676.5	-	5	803	c.661G>A	c.(661-663)Gag>Aag	p.E221K	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	221										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CTGCAGGACTCGATGATGGCC	0.597000													4	44					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109895688	109895688	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:109895688C>T	ENST00000399132.1	-	7	996		c.e7+1		COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1							collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CATTTTCTTACCTTATCGCCT	0.313000													26	60					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526555	173526555	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:173526555A>T	ENST00000367714.3	-	10	1561	c.1139T>A	c.(1138-1140)aTt>aAt	p.I380N	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I278N|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	380					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AACTCCTTTAATTCCAGACCA	0.378000													7	119					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640130	104640130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104640130C>T	ENST00000315264.7	+	9	1916	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P652L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	652	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCTGGGGGTCCCCTGTGTCTG	0.692000													4	29					0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45475742	45475742	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:45475742G>T	ENST00000372172.4	-	4	746	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	225	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGTCATACAAGAAGTGGATCA	0.572000													19	84					1.67942e-08	1.7069e-08	1	1	0
DYSF	8291	broad.mit.edu	37	2	71797810	71797810	+	Missense_Mutation	SNP	G	G	A	rs150877497		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71797810G>A	ENST00000258104.3	+	29	3390	c.3113G>A	c.(3112-3114)cGa>cAa	p.R1038Q	DYSF_ENST00000394120.2_Missense_Mutation_p.R1039Q|DYSF_ENST00000413539.2_Missense_Mutation_p.R1069Q|DYSF_ENST00000409762.1_Missense_Mutation_p.R1055Q|DYSF_ENST00000410041.1_Missense_Mutation_p.R1056Q|DYSF_ENST00000409651.1_Missense_Mutation_p.R1070Q|DYSF_ENST00000409744.1_Missense_Mutation_p.R1025Q|DYSF_ENST00000429174.2_Missense_Mutation_p.R1038Q|DYSF_ENST00000410020.3_Missense_Mutation_p.R1056Q|DYSF_ENST00000409582.3_Missense_Mutation_p.R1055Q|DYSF_ENST00000409366.1_Missense_Mutation_p.R1039Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1038	Arg-rich.		R -> Q (in LGMD2B; uncertain pathogenicity).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACACACACCGACGGCGGCGC	0.642000													6	31					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3293274	3293274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3293274G>A	ENST00000219596.1	-	10	2252	c.2213C>T	c.(2212-2214)tCc>tTc	p.S738F	MEFV_ENST00000536379.1_Missense_Mutation_p.S527F|MEFV_ENST00000339854.4_Missense_Mutation_p.S558F|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	738	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ATAGATGTGGGATCTGGCTGT	0.542000													4	92					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51690900	51690900	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51690900C>T	ENST00000267012.4	-	8	712	c.651G>A	c.(649-651)agG>agA	p.R217R	BIN2_ENST00000544402.1_Silent_p.R191R|BIN2_ENST00000604560.1_Silent_p.R190R|BIN2_ENST00000452142.2_Silent_p.R185R	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	217	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGAAGACATCCCTCAAGTTGG	0.433000													8	46					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581586	25581586	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:25581586C>T	ENST00000329474.6	+	31	3293	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	975	Inhibits capping activity of CAPZA2 (By similarity).				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGAGTTGCCCTCTGAAGAGG	0.517000													3	19					0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123676511	123676511	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:123676511A>G	ENST00000373887.3	-	4	2740		c.e4+1		TRAF1_ENST00000546084.1_Splice_Site|TRAF1_ENST00000540010.1_Splice_Site	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1						apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TCAGATGCTTACCTTGAAGGA	0.512000													5	30					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881473	33881473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:33881473C>T	ENST00000504830.1	-	2	575	c.240G>A	c.(238-240)agG>agA	p.R80R	ADAMTS12_ENST00000515401.1_Silent_p.R80R|ADAMTS12_ENST00000352040.3_Silent_p.R80R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	80					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AATCTCTCTTCCTCCTGCTGC	0.488000										HNSCC(64;0.19)			12	60					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38783842	38783842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38783842C>T	ENST00000449082.2	-	13	2045	c.2046G>A	c.(2044-2046)atG>atA	p.M682I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	682					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCTCCATGGCCATGAAGATGG	0.552000													8	55					0	0	1	0	0
IL1A	3552	broad.mit.edu	37	2	113532692	113532692	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113532692C>T	ENST00000263339.3	-	7	923	c.768G>A	c.(766-768)ggG>ggA	p.G256G		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	256					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						AGGGTGGCCCCCCTGCCAAGC	0.478000													7	47					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918838	15918838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15918838C>T	ENST00000334920.2	-	1	98	c.10G>A	c.(10-12)Gcc>Acc	p.A4T		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAGTGATTGGCTCTCTGCATG	0.532000													16	53					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175928	51175928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51175928G>A	ENST00000251020.4	-	2	238	c.205C>T	c.(205-207)Caa>Taa	p.Q69*	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	69					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAACTAATTGATTTTTAGTA	0.463000													5	106					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1163951	1163951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1163951G>A	ENST00000263741.7	-	2	515	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	SDF4_ENST00000545427.1_Missense_Mutation_p.R75C|SDF4_ENST00000360001.6_Missense_Mutation_p.R75C|SDF4_ENST00000459994.2_5'UTR	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	75					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TGGAAGCCGCGATTGAGGTGC	0.612000													4	58					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75157289	75157289	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:75157289C>T	ENST00000342232.4	-	4	1420	c.1380G>A	c.(1378-1380)acG>acA	p.T460T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	460					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGGGGGTGTCGTGCCTTTGC	0.507000													15	91					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145610271	145610271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145610271C>T	ENST00000265271.5	+	6	807	c.641C>T	c.(640-642)tCc>tTc	p.S214F	RBM27_ENST00000506502.1_Missense_Mutation_p.S214F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	214					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGAGTTCCTATGTGCCT	0.448000													6	50					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53522577	53522577	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:53522577G>A	ENST00000357758.3	-	10	2229	c.2046C>T	c.(2044-2046)gtC>gtT	p.V682V	DDHD1_ENST00000323669.5_Silent_p.V682V|DDHD1_ENST00000395606.1_Silent_p.V689V	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	682	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AGTGGATCTGGACAGGTGAAA	0.343000													5	40					0	0	1	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889961	89889961	+	RNA	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:89889961G>T	ENST00000513638.1	+	0	702					NR_003133.2																						GAGAGCGACAGGGTCCAGTTG	0.443000													6	237					1	1	1	1	0
ZBTB9	221504	broad.mit.edu	37	6	33423398	33423398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33423398C>T	ENST00000395064.2	+	2	789	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATTCGCTCTTCGCCTTTCCAG	0.542000													22	128					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878419	50878419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50878419C>T	ENST00000359139.3	+	20	2631	c.2237C>T	c.(2236-2238)cCg>cTg	p.P746L	PPP6R2_ENST00000216061.5_Missense_Mutation_p.P772L|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P745L|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P746L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	772						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCAGCTCTCCGGTGGACACA	0.642000													5	47					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31621995	31621995	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31621995G>A	ENST00000349552.1	+	3	201	c.201G>A	c.(199-201)ttG>ttA	p.L67L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	67						extracellular region	lipid binding										TTCCCAGTTTGAAGGTGAAGG	0.527000													21	90					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152466492	152466492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152466492C>T	ENST00000397345.3	-	81	12363	c.12161G>A	c.(12160-12162)tGg>tAg	p.W4054*	NEB_ENST00000604864.1_Nonsense_Mutation_p.W4054*|NEB_ENST00000409198.1_Nonsense_Mutation_p.W3811*|NEB_ENST00000603639.1_Nonsense_Mutation_p.W4054*|NEB_ENST00000427231.2_Nonsense_Mutation_p.W4054*|NEB_ENST00000172853.10_Nonsense_Mutation_p.W3811*	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4053					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTGGTTTTCCACTTTTGGAA	0.418000													4	24					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40843438	40843438	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:40843438G>A	ENST00000254691.5	+	2	667	c.468G>A	c.(466-468)agG>agA	p.R156R	CARD6_ENST00000381677.3_Silent_p.R156R	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	156					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						CTAGTTATAGGGAAACAGCTT	0.418000													6	19					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888505	30888505	+	Missense_Mutation	SNP	G	G	A	rs145618105	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30888505G>A	ENST00000392772.2	-	8	735	c.458C>T	c.(457-459)tCg>tTg	p.S153L	SEC14L4_ENST00000381982.3_Missense_Mutation_p.S207L|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S192L|SEC14L4_ENST00000255858.7_Missense_Mutation_p.S207L|RP4-539M6.14_ENST00000442126.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	207	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity	p.S207L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ACTCATGAACGACTTGACCAA	0.537000													5	47					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985459	33985459	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33985459G>A	ENST00000373381.4	-	69	10865	c.10689C>T	c.(10687-10689)ttC>ttT	p.F3563F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3419						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGGGCGATGAAAGGCACCA	0.602000													4	53					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35759750	35759750	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35759750G>A	ENST00000440995.2	+	25	3534	c.3534G>A	c.(3532-3534)gaG>gaA	p.E1178E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.E1183E			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1183					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCAGTAGAGGACAACAAGA	0.393000													5	70					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725839	140725839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140725839C>T	ENST00000253812.6	+	1	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.657000													10	94					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028503	102028503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102028503G>A	ENST00000510508.4	+	1	816	c.670G>A	c.(670-672)Gac>Aac	p.D224N	DIO3_ENST00000359323.3_Missense_Mutation_p.D198N			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	198					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GAGCCTGGAGGACCGGGTCAG	0.647000													14	104					0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35812752	35812752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35812752C>T	ENST00000216122.4	+	12	1689	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	MCM5_ENST00000382011.5_Missense_Mutation_p.S469L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	512	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACCATCTTGTCGCGCTTCGAC	0.597000													10	99					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21262025	21262025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:21262025G>A	ENST00000311620.5	+	2	1211	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	380	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGCTCTGATGAGGACCTTCA	0.512000													9	57					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798235	38798235	+	Missense_Mutation	SNP	G	G	A	rs41305843		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:38798235G>A	ENST00000308979.2	-	4	2491	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	TLR1_ENST00000502213.2_Missense_Mutation_p.P740S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	740	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAACTGCTAGGAATGGAGTAC	0.438000													4	40					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41522530	41522530	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:41522530G>A	ENST00000457297.1	-	1	274	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ANK1_ENST00000379758.2_Intron|ANK1_ENST00000314214.8_Silent_p.F4F|ANK1_ENST00000396942.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522543.1_Silent_p.F4F|ANK1_ENST00000522231.1_Silent_p.F4F|ANK1_ENST00000289734.7_Intron|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000265709.8_Intron	NM_020480.4	NP_065213.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTGGGTGACGAAAGTCCACA	0.622000													4	19					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16342141	16342141	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16342141G>A	ENST00000311890.9	-	3	1273	c.447C>T	c.(445-447)atC>atT	p.I149I	HSPB7_ENST00000487046.1_Silent_p.I154I|HSPB7_ENST00000375718.4_Silent_p.I224I|HSPB7_ENST00000411503.1_Silent_p.I144I|HSPB7_ENST00000406363.2_Silent_p.I153I	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	149					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGTGCCCGGATAGTGAGGC	0.637000													5	72					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798437	55798437	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:55798437C>T	ENST00000313555.1	+	1	543	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTGTGATATCCCACCTCTTC	0.428000													15	76					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065776	32065776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32065776C>T	ENST00000375244.3	-	2	401	c.200G>A	c.(199-201)gGg>gAg	p.G67E	TNXB_ENST00000479795.1_Missense_Mutation_p.G67E|TNXB_ENST00000375247.2_Missense_Mutation_p.G67E			P22105	TENX_HUMAN	tenascin XB	67					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						CTGCTTCTCCCCTCCTTCCAC	0.657000													27	281					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19721472	19721472	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:19721472G>A	ENST00000507958.1	-	7	1617	c.627C>T	c.(625-627)tcC>tcT	p.S209S	CDH18_ENST00000506372.1_Silent_p.S209S|CDH18_ENST00000274170.4_Silent_p.S209S|CDH18_ENST00000502796.1_Silent_p.S209S|CDH18_ENST00000382275.1_Silent_p.S209S|CDH18_ENST00000511273.1_Silent_p.S209S			Q13634	CAD18_HUMAN	cadherin 18, type 2	209	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAGGGTCGACGGAGAAGTAGG	0.453000													7	31					0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21563271	21563271	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:21563271G>A	ENST00000382592.4	-	4	1053	c.648C>T	c.(646-648)ttC>ttT	p.F216F	LATS2_ENST00000542899.1_Silent_p.F216F|LATS2_ENST00000472754.1_5'UTR	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	216					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F216F(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGACTCCGGGGAAAAGGTAGT	0.711000													7	20					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55039483	55039483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:55039483C>T	ENST00000456047.2	-	3	295	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	DCD_ENST00000293371.6_Missense_Mutation_p.E36K			P81605	DCD_HUMAN	dermcidin	36					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				GCTGATGCTTCATGGCAAGCT	0.527000													5	34					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11971910	11971910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:11971910G>A	ENST00000356352.2	-	20	4236	c.3763C>T	c.(3763-3765)Ccg>Tcg	p.P1255S	UPF2_ENST00000357604.5_Missense_Mutation_p.P1255S|UPF2_ENST00000397053.2_Missense_Mutation_p.P1255S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1255	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTTCGGATGTTGGTAG	0.463000													81	315					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230895368	230895368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:230895368C>T	ENST00000354537.1	+	3	476	c.394C>T	c.(394-396)Cat>Tat	p.H132Y	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.H132Y|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	132	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGGGATATTCCATTTCCAGGT	0.557000													6	21					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	654586	654586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:654586G>A	ENST00000266383.5	+	6	603	c.590G>A	c.(589-591)aGc>aAc	p.S197N	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	197						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCTGGCTGAGCCTCGATGAC	0.602000													8	35					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131812888	131812888	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:131812888G>A	ENST00000409185.1	-	5	539	c.432C>T	c.(430-432)gtC>gtT	p.V144V	FAM168B_ENST00000389915.3_Silent_p.V144V	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	144										endometrium(3)|lung(2)	5						TGCCCATGGTGACCCCGTTGC	0.632000													8	128					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33500982	33500982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33500982G>A	ENST00000360596.2	+	3	669	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.R103Q|ACSS2_ENST00000253382.5_Missense_Mutation_p.R153Q	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	153					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGTTCTCCGAAAACAGGGT	0.532000													5	68					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417929	150417929	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150417929C>T	ENST00000307194.5	+	3	977	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGGCCTGGCCCTGCTGCTGG	0.711000													4	19					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065824	9065824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9065824C>T	ENST00000397910.4	-	3	21825	c.21622G>A	c.(21622-21624)Gcc>Acc	p.A7208T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7210	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGATGTGGCTTTGGATGTC	0.478000													4	67					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61645657	61645657	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61645657C>T	ENST00000397985.2	+	2	371	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	SERPINB8_ENST00000353706.2_Silent_p.L39L|SERPINB8_ENST00000542677.1_Intron|HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Silent_p.L39L	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	39					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTCCTCTGCCCTGGCCATGGT	0.483000													6	34					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92258027	92258027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92258027G>A	ENST00000298047.6	+	2	3537	c.3520G>A	c.(3520-3522)Gat>Aat	p.D1174N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1174N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1174N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1024N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1174	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGGCTGAAGATCCTGACTC	0.408000										TCGA Ovarian(4;0.039)			22	203					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446965	226446965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:226446965G>A	ENST00000272907.6	+	4	1245	c.832G>A	c.(832-834)Gac>Aac	p.D278N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	278																	TATCTTTGACGACTTGGGCCA	0.537000													8	91					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017384	93017384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:93017384G>A	ENST00000523629.1	-	6	1154	c.700C>T	c.(700-702)Ctc>Ttc	p.L234F	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L245F|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L207F|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L197F|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.L197F|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L207F|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L234F|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L197F|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L197F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	234					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCACATCGAGAAGCAGCTCT	0.557000													6	50					0	0	1	0	0
LRRC45	201255	broad.mit.edu	37	17	79984867	79984867	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79984867C>A	ENST00000306688.3	+	6	1096	c.754C>A	c.(754-756)Cgg>Agg	p.R252R		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	252						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAGCACCTCCGGGAGGAGAA	0.637000													3	18					1	1	1	1	0
IFNLR1	163702	broad.mit.edu	37	1	24483936	24483936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24483936G>A	ENST00000327535.1	-	7	1259	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.P387L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		ATCCCCACCCGGCCCTTGGCC	0.602000													22	66					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533582	55533582	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:55533582G>A	ENST00000220676.1	+	2	204	c.56G>A	c.(55-57)gGt>gAt	p.G19D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	19					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCTTCTGAAGGTCAAGTTCCA	0.488000													9	79					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10382043	10382043	+	Missense_Mutation	SNP	C	C	T	rs138429990		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:10382043C>T	ENST00000274140.5	+	4	454	c.322C>T	c.(322-324)Cct>Tct	p.P108S	MARCH6_ENST00000449913.2_Intron|MARCH6_ENST00000503788.1_Intron	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	108					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGGAGTTGTTCCTCTTACAGC	0.338000													14	147					0	0	1	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89266222	89266222	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89266222G>A	ENST00000464162.1	-	0	64																											AGAGCAGCAGGAGCCCCAGGA	0.557000													13	88					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161157928	161157928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161157928C>T	ENST00000308192.9	+	14	1754	c.1691C>T	c.(1690-1692)tCa>tTa	p.S564L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	564					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCGGCCCCTTCATTTGATTGT	0.507000													4	26					0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26314785	26314785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:26314785G>A	ENST00000374282.3	-	4	457	c.278C>T	c.(277-279)cCc>cTc	p.P93L	PAFAH2_ENST00000374284.1_Missense_Mutation_p.P93L|PAFAH2_ENST00000493892.1_Intron	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	93					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCTTAAAGGGGCCATTCCA	0.522000													9	139					0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11889433	11889433	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:11889433T>C	ENST00000588072.1	-	5	1668	c.447A>G	c.(445-447)gtA>gtG	p.V149V	MPPE1_ENST00000399978.2_Silent_p.V149V|MPPE1_ENST00000309976.9_Silent_p.V149V|MPPE1_ENST00000344987.7_Silent_p.V149V|MPPE1_ENST00000317235.7_Silent_p.V149V	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	149					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTTCAGCTGTACATGACTTG	0.468000													7	56					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462972	26462972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:26462972G>A	ENST00000265944.5	+	30	3945	c.3779G>A	c.(3778-3780)aGg>aAg	p.R1260K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1260					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						TATCTAGAAAGGAAGGCCATA	0.423000													5	32					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5951148	5951148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:5951148C>T	ENST00000379999.5	+	6	1168	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P304L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.P41L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	304					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						AAGTGCTCTCCGAGTGTGGAT	0.572000													5	76					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9077350	9077350	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9077350G>A	ENST00000457346.2	-	10	1271	c.1197C>T	c.(1195-1197)acC>acT	p.T399T	SCUBE2_ENST00000309263.3_Silent_p.T399T|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.T399T|SCUBE2_ENST00000520467.1_Silent_p.T399T			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	399	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTCCACAGTGGGTGAAGCCAT	0.572000													13	91					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442176	39442176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:39442176G>A	ENST00000265707.5	+	1	80	c.35G>A	c.(34-36)gGa>gAa	p.G12E	ADAM18_ENST00000520772.1_Missense_Mutation_p.G12E|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G12E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	12					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ACTGAGCTTGGAAGACTGCAA	0.572000													11	43					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124364289	124364289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124364289G>A	ENST00000409039.3	+	49	8246	c.8221G>A	c.(8221-8223)Gga>Aga	p.G2741R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2741					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGCACGAAGGAGAACCACG	0.532000													14	215					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981176	981176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:981176C>T	ENST00000379370.2	+	15	2650	c.2600C>T	c.(2599-2601)tCg>tTg	p.S867L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	867	Laminin EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCTGTGCTCGTGTAAGCCC	0.662000													12	103					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942450	2942450	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:2942450G>A	ENST00000397461.1	+	10	1406	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	CNTN4_ENST00000418658.1_Missense_Mutation_p.G341E|CNTN4_ENST00000427331.1_Missense_Mutation_p.G341E|CNTN4_ENST00000448906.2_Missense_Mutation_p.G13E|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.G122E|CNTN4_ENST00000397459.2_Missense_Mutation_p.G13E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	341	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAGCAAATGGAAGGCCTAAG	0.388000													5	30					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294771	42294771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42294771G>A	ENST00000342228.3	-	8	1628	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	SLC20A2_ENST00000520179.1_Missense_Mutation_p.T420I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T420I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	420					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTAGGACACGGTGTCGCCCAC	0.637000													4	53					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17418802	17418802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17418802C>T	ENST00000302539.4	-	32	4054	c.3929G>A	c.(3928-3930)gGg>gAg	p.G1310E	ABCC8_ENST00000389817.3_Missense_Mutation_p.G1309E	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1309					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTTCACAGCCCCCAGCTGGAG	0.612000													22	129					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:88885275C>T	ENST00000319675.3	-	1	1021	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	309										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGACCTTCGTACTGTGTT	0.517000													5	46					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72291988	72291988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:72291988G>A	ENST00000334456.5	-	24	2320	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	PDE2A_ENST00000444035.2_Missense_Mutation_p.S683F|PDE2A_ENST00000418754.2_Missense_Mutation_p.S577F|PDE2A_ENST00000540345.1_Missense_Mutation_p.S683F|PDE2A_ENST00000544570.1_Missense_Mutation_p.S685F|PDE2A_ENST00000376450.3_Missense_Mutation_p.S436F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	692	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ACACATGCAGGAAATAAACAA	0.532000													10	162					0	0	1	0	0
DPYSL3	1809	broad.mit.edu	37	5	146775141	146775141	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:146775141C>T	ENST00000343218.5	-	13	2144	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	DPYSL3_ENST00000398514.3_Silent_p.Q535Q|DPYSL3_ENST00000534907.1_Silent_p.Q161Q	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	535					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAATCCCGACTGATGAAGAT	0.572000													4	6					0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150052042	150052042	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:150052042A>T	ENST00000297130.4	+	6	764	c.565A>T	c.(565-567)Aac>Tac	p.N189Y	MYOZ3_ENST00000517768.1_Missense_Mutation_p.N189Y|MYOZ3_ENST00000520112.1_Missense_Mutation_p.Q105L	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	189	Binding to ACTN2.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGCCCCAACGACTACCG	0.652000													5	35					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117432246	117432246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117432246G>A	ENST00000160373.3	-	4	1095	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	335										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAAACTAGGGGACTCCCTGT	0.502000													9	136					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79324609	79324609	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:79324609G>A	ENST00000419573.3	-	7	1282	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.F336F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	336	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTTGCGGACGAACTCTTGGT	0.587000													5	47					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43383710	43383710	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43383710G>A	ENST00000244296.2	-	1	161	c.24C>T	c.(22-24)ccC>ccT	p.P8P	PSG1_ENST00000312439.6_Silent_p.P8P|PSG1_ENST00000595356.1_Silent_p.P8P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595124.1_Silent_p.P8P|PSG1_ENST00000403380.3_Silent_p.P8P|PSG1_ENST00000436291.2_Silent_p.P8P	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GCTGTGTGCAGGGAGGGGCTG	0.572000													22	98					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201931	135201931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135201931G>A	ENST00000372169.2	-	10	5236	c.5054C>T	c.(5053-5055)tCc>tTc	p.S1685F	SETX_ENST00000224140.5_Missense_Mutation_p.S1685F|SETX_ENST00000393220.1_Missense_Mutation_p.S1685F			Q7Z333	SETX_HUMAN	senataxin	1685					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TACTGGAGAGGAAGATGGAAA	0.373000													5	44					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425991	75425991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:75425991G>A	ENST00000305249.4	-	1	835	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	TACR1_ENST00000409848.3_Nonsense_Mutation_p.Q24*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	24					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGCACGAACTGATTGGGTTCC	0.532000													8	16					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181151	140181151	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140181151G>A	ENST00000522353.2	+	1	369	c.369G>A	c.(367-369)gtG>gtA	p.V123V	PCDHA3_ENST00000532566.2_Silent_p.V123V|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGAAGTGAAGGACATTA	0.557000													21	120					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233313642	233313642	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:233313642G>A	ENST00000258229.8	-	17	3413	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S193F	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1060						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGGATGAAGGACCTGAAAGT	0.418000													5	21					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539774	113539774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:113539774G>A	ENST00000505019.1	-	6	1549	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	C4orf21_ENST00000445203.2_Missense_Mutation_p.S444L|C4orf21_ENST00000309071.5_Missense_Mutation_p.S475L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	475										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGATGACTCTGATTGTTCATA	0.353000													6	53					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867026	29867026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:29867026G>A	ENST00000399218.4	-	4	1589	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	GAREM_ENST00000269209.6_Missense_Mutation_p.P512S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		GGAGGTGGAGGTAGGGCAGTA	0.493000													7	55					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066073	9066073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9066073G>A	ENST00000397910.4	-	3	21576	c.21373C>T	c.(21373-21375)Cct>Tct	p.P7125S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7127	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.517000													9	27					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293628	29293628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:29293628G>A	ENST00000331664.5	-	1	3499	c.3500C>T	c.(3499-3501)tCa>tTa	p.S1167L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1167					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCAAGGCCCTGAGCTGTTCTT	0.637000													19	42					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049977	42049977	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049977G>A	ENST00000372584.1	-	3	1506	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_ENST00000372583.1_Silent_p.F164F|HIVEP3_ENST00000429157.2_Silent_p.F164F|HIVEP3_ENST00000247584.5_Silent_p.F164F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	164					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F164F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACGAGGCACGAAGACTTTGG	0.597000													11	145					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706185	96706185	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:96706185C>T	ENST00000389672.5	+	3	500	c.462C>T	c.(460-462)atC>atT	p.I154I	EPHA6_ENST00000470610.2_Silent_p.I154I|EPHA6_ENST00000542517.1_Silent_p.I60I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	59	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGGATGCCATCACTGAAATGG	0.348000													5	34					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128901581	128901581	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:128901581C>T	ENST00000371106.3	+	20	1935	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	581					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCTCCCAGTACCCAGGGAGCT	0.577000													9	58					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45208885	45208885	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45208885C>T	ENST00000587331.1	+	5	902	c.687C>T	c.(685-687)ctC>ctT	p.L229L	CEACAM16_ENST00000405314.2_Silent_p.L229L|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	229										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGGCCATCCTCCAGGATTCCA	0.602000													30	179					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911829	35911829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:35911829G>A	ENST00000490799.1	-	20	3114	c.2761C>T	c.(2761-2763)Cac>Tac	p.H921Y	SLC26A8_ENST00000355574.2_Missense_Mutation_p.H921Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.H816Y	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	921	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAAAAGTGTGAGCTCTTGGC	0.572000													16	83					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109804458	109804458	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109804458C>T	ENST00000271332.3	+	5	4387	c.4326C>T	c.(4324-4326)ttC>ttT	p.F1442F		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1442	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTCCCCATTCGTGCCCGGAG	0.592000													31	168					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81214828	81214828	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81214828G>A	ENST00000599697.1	-	12	2045	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000527937.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	682	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGACCCTGAGCAGAATGT	0.532000													5	73					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350368	51350368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51350368G>A	ENST00000327536.5	-	3	688	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	197										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AGCTTCTTCCGGAACTTCTCC	0.478000													8	70					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37620139	37620139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:37620139C>T	ENST00000252011.3	+	6	526	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	DHX35_ENST00000373325.2_Missense_Mutation_p.P165S|DHX35_ENST00000373323.4_Missense_Mutation_p.P134S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	165	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GATGGTTGATCCGTTGTTAAC	0.353000													6	24					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139866504	139866504	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:139866504G>A	ENST00000370532.2	-	1	219	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	10	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACGTCTTCCAGAAAATCCACG	0.428000													5	34					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67854835	67854835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67854835G>A	ENST00000388833.3	+	3	456	c.79G>A	c.(79-81)Gac>Aac	p.D27N	TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.D81N	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	27					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGTTCAGATGACTACCGGAA	0.592000													12	174					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598953	57598953	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57598953G>A	ENST00000217133.1	+	4	740	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	157					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	AGATTAGAGAGGAGTACCCGG	0.592000													8	97					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1637215	1637215	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1637215C>T	ENST00000409644.1	+	7	4884	c.4884C>T	c.(4882-4884)agC>agT	p.S1628S	WDR81_ENST00000446363.1_Silent_p.S267S|WDR81_ENST00000545662.1_Silent_p.S259S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.S577S|WDR81_ENST00000419248.1_Silent_p.S401S|WDR81_ENST00000437219.2_Silent_p.S425S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	401										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCGGCGTGAGCCAGCAGGATG	0.667000													8	65					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43269689	43269689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43269689C>T	ENST00000404209.4	-	1	141	c.45G>A	c.(43-45)tgG>tgA	p.W15*	PSG8_ENST00000306511.4_Nonsense_Mutation_p.W15*|PSG8_ENST00000406636.3_Nonsense_Mutation_p.W15*|PSG8_ENST00000401467.2_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	15						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGAGCCCCTTCCAGGTGATGC	0.587000													6	70					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61441003	61441003	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61441003C>T	ENST00000370461.1	+	2	2507	c.230C>T	c.(229-231)tCc>tTc	p.S77F	OGFR_ENST00000370468.3_Missense_Mutation_p.S129F|OGFR_ENST00000290291.6_Missense_Mutation_p.S129F			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	129				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).	regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GACAATCACTCCTACATCCAG	0.612000													18	78					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102760	3102760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3102760G>A	ENST00000378398.3	+	2	191	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PRDM16_ENST00000378391.2_Missense_Mutation_p.E37K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E37K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E37K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E37K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E37K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E37K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	37					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGGAGGACGAGGCCGAGGA	0.637000			T	EVI1	"""MDS, AML"""								6	78					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385312	21385312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:21385312G>A	ENST00000382932.2	-	2	857	c.790C>T	c.(790-792)Cca>Tca	p.P264S	SLC7A4_ENST00000403586.1_Missense_Mutation_p.P264S	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	264					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCGCCGTGGGTTCTGGGCC	0.627000													5	37					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787280	46787280	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46787280T>C	ENST00000230588.4	+	7	404	c.395T>C	c.(394-396)gTt>gCt	p.V132A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	132	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TGGTCTGAGGTTGGTGACCAA	0.428000													7	6					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067525	3067525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:3067525C>T	ENST00000400569.3	-	38	5126	c.4793G>A	c.(4792-4794)gGa>gAa	p.G1598E	MYOM1_ENST00000356443.4_Missense_Mutation_p.G1598E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1502E			P52179	MYOM1_HUMAN	myomesin 1	1598	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGGTCTCCCCACACGTT	0.527000													4	40					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29621147	29621147	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29621147G>C	ENST00000334018.6	+	4	533	c.345G>C	c.(343-345)gaG>gaC	p.E115D	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Missense_Mutation_p.E115D|EMID1_ENST00000404755.3_Missense_Mutation_p.E115D	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	113						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCTCCTTGGAGCCCATGTGGT	0.642000													7	92					0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608958	4608958	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4608958C>T	ENST00000312614.4	+	1	938	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCAAGTCCTGCTAGCTGA	0.517000													6	45					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106235664	106235664	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106235664C>T	ENST00000390551.2	-	0	1042																											TGTTCCCCTGCTGCCACCTGC	0.592000													28	174					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183225903	183225903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183225903G>A	ENST00000341319.3	-	3	888	c.853C>T	c.(853-855)Cca>Tca	p.P285S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	285										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGACCTCTGGGCACTGCCTG	0.532000													9	28					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191482	56191482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:56191482C>T	ENST00000340462.4	-	2	357	c.77G>A	c.(76-78)gGc>gAc	p.G26D	ZBP1_ENST00000371173.3_Missense_Mutation_p.G26D|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000541799.1_Missense_Mutation_p.G26D|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000343535.4_Missense_Mutation_p.G26D			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	26						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CACCGGGGAGCCAGCCTCTGT	0.577000													16	91					0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146157162	146157162	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:146157162G>A	ENST00000276816.4	-	4	1197	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	ZNF16_ENST00000394909.2_Silent_p.I337I	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	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)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTTGATGTTGGATGAGGTTTG	0.478000													6	37					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8399453	8399453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8399453C>T	ENST00000330915.3	-	3	1323	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	KANK3_ENST00000593649.1_Missense_Mutation_p.E420K	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	420										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GAGGGCGCCTCTGCCGGGGAC	0.751000													6	16					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29644278	29644278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:29644278C>T	ENST00000373779.3	+	25	3661	c.3532C>T	c.(3532-3534)Ccg>Tcg	p.P1178S	PTPRU_ENST00000460170.2_Missense_Mutation_p.P1184S|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1175S|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1184S|PTPRU_ENST00000345512.3_Missense_Mutation_p.P1188S|PTPRU_ENST00000323874.8_Missense_Mutation_p.P1184S	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCGGTCACCCCGCCGCTGGA	0.667000													18	55					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270685	37270685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37270685C>T	ENST00000373091.3	-	15	2484	c.2468G>A	c.(2467-2469)gGc>gAc	p.G823D	GRIK3_ENST00000373093.4_Missense_Mutation_p.G823D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	823					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AATGAAGATGCCCCCGATCTT	0.592000													8	104					0	0	1	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30791802	30791802	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30791802G>A	ENST00000458257.1	+	1	50	c.36G>A	c.(34-36)caG>caA	p.Q12Q	INMT_ENST00000409539.1_Silent_p.Q12Q|INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Silent_p.Q12Q																							ATGAGTACCAGAAGCACTTCC	0.552000													8	126					0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127982863	127982863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127982863C>T	ENST00000373538.3	+	5	720	c.410C>T	c.(409-411)tCc>tTc	p.S137F	RABEPK_ENST00000394125.4_Missense_Mutation_p.S137F|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.S86F	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	137					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCCCCACCATCCCCAAGAACA	0.572000													4	68					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85529619	85529619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:85529619C>T	ENST00000282111.3	+	5	813	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	180	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TAATAAAGTTCCTGTCGTTCA	0.517000													47	201					0	0	1	0	0
LCN12	286256	broad.mit.edu	37	9	139847361	139847361	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:139847361C>T	ENST00000371633.3	+	2	132	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	44					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGGAATGGTTCGTCCTGGGCC	0.672000													21	172					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120750397	120750397	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:120750397C>T	ENST00000202967.4	+	3	695	c.636C>T	c.(634-636)gtC>gtT	p.V212V	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	212	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGAGCAAGTCCGGAGCTTTC	0.552000													6	34					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488517	84488517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84488517G>A	ENST00000416219.2	+	21	2163	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G692R			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	692					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATCGCCATGGGGCAGACAGG	0.572000													6	50					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619947	48619947	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48619947C>T	ENST00000328333.8	-	45	4671		c.e45-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGTGGCCCCTGAATGTAGA	0.602000													15	77					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467317	10467317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10467317C>T	ENST00000382483.3	-	4	4514	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1431					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)		CTTCCTGCTTCCTCCTCCTGG	0.617000													18	278					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50219775	50219775	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50219775C>T	ENST00000002829.3	+	8	1186	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SEMA3F_ENST00000434342.1_Silent_p.F203F|SEMA3F_ENST00000413852.1_Silent_p.F135F	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	234	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)		CAGCCATCTTCCGCACACTTG	0.582000													4	102					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57290769	57290769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:57290769C>T	ENST00000543872.2	+	4	2849	c.2585C>T	c.(2584-2586)tCt>tTt	p.S862F	SMG8_ENST00000300917.5_Missense_Mutation_p.S862F|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	862					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTCATGTGCTCTGGGCCTGAC	0.453000													18	118					0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64846961	64846961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64846961G>A	ENST00000275517.3	-	5	714	c.542C>T	c.(541-543)tCg>tTg	p.S181L	CDCA5_ENST00000404147.3_Missense_Mutation_p.S181L	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	181					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CACCACTGGCGAGACTCCGGA	0.647000													4	48					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153912185	153912185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153912185G>A	ENST00000361217.4	-	12	2117	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	567	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGGCTCCTTGGACTTCGCGC	0.632000													11	102					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263298	65263298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65263298C>T	ENST00000389722.3	-	10	1371	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	SPTB_ENST00000556626.1_Missense_Mutation_p.E440K|SPTB_ENST00000542895.1_Missense_Mutation_p.E440K|SPTB_ENST00000389720.3_Missense_Mutation_p.E440K|SPTB_ENST00000389721.5_Missense_Mutation_p.E440K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	440					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)		CGCTGGTTTTCACTGAGCCAG	0.602000													7	58					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917235	99917235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:99917235G>A	ENST00000373004.3	+	4	654	c.226G>A	c.(226-228)Gga>Aga	p.G76R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	76	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCACCGAAGGGAGGAAATTA	0.507000													6	44					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53008018	53008018	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53008018G>A	ENST00000421239.2	+	5	418	c.174G>A	c.(172-174)agG>agA	p.R58R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AGAACTACAGGAACCTGGAGG	0.478000													18	87					0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	28220125	28220125	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28220125G>A	ENST00000283928.5	-	1	237	c.72C>T	c.(70-72)ccC>ccT	p.P24P	JAZF1-AS1_ENST00000455963.1_RNA|JAZF1-AS1_ENST00000436758.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	24					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGGCCAGGGTGGGGAAGTGGA	0.672000			T	SUZ12	endometrial stromal tumours								54	452					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78409984	78409984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78409984C>T	ENST00000520284.1	+	6	602	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ENDOV_ENST00000518137.1_3'UTR|ENDOV_ENST00000518907.1_Nonsense_Mutation_p.R62*|ENDOV_ENST00000518901.1_3'UTR|ENDOV_ENST00000520367.1_3'UTR|ENDOV_ENST00000517795.1_3'UTR			Q8N8Q3	ENDOV_HUMAN	endonuclease V	0					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						cattcctgatcGAACGCGGTG	0.542000								Direct reversal of damage					5	45					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45235791	45235791	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:45235791C>T	ENST00000303077.6	-	1	778	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	153						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCACGCTTCTCGCGGGGTG	0.657000													37	67					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747031	51747031	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51747031C>T	ENST00000395052.3	+	3	1227	c.993C>T	c.(991-993)ttC>ttT	p.F331F	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.F331F	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	331					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCTCCTACTTCCAGAGCCTGG	0.632000													5	48					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613141	51613141	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:51613141G>A	ENST00000371117.3	-	58	9548	c.9273C>T	c.(9271-9273)ctC>ctT	p.L3091L	PKHD1_ENST00000340994.4_Silent_p.L3091L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3091					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGTTGCCATGGAGGTTGATGT	0.502000													5	39					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417787	40417787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:40417787G>A	ENST00000333407.5	+	4	1367	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	425										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AAACGGCATGGGAGAAGCGGC	0.672000													7	31					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188825	45188825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45188825G>A	ENST00000279027.4	-	13	1663	c.1645C>T	c.(1645-1647)Ctc>Ttc	p.L549F	SLC13A3_ENST00000413164.2_Missense_Mutation_p.L499F|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L502F|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L502F|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L467F|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L467F|SLC13A3_ENST00000435032.1_Missense_Mutation_p.L134F	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	549						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCATCAGGAGGCCTGTCCGC	0.552000													9	71					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717903	45717903	+	Silent	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45717903T>G	ENST00000327619.5	+	8	1061	c.687T>G	c.(685-687)ccT>ccG	p.P229P	EYA2_ENST00000317304.6_Silent_p.P229P|EYA2_ENST00000357410.3_Silent_p.P229P	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	229					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)				ACAATGGACCTTCCACACCAG	0.582000													6	83					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	883119	883119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:883119C>T	ENST00000456758.2	+	8	794	c.794C>T	c.(793-795)cCc>cTc	p.P265L	SUN1_ENST00000425407.2_Missense_Mutation_p.P157L|SUN1_ENST00000403868.1_Missense_Mutation_p.P207L|SUN1_ENST00000457378.2_Missense_Mutation_p.P228L|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.P207L|SUN1_ENST00000389574.3_Missense_Mutation_p.P157L|SUN1_ENST00000405266.1_Missense_Mutation_p.P207L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	207	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCCCCGGGCCCGTGTCGAGA	0.547000													16	323					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593450	137593450	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137593450G>A	ENST00000274721.3	-	4	909	c.663C>T	c.(661-663)gcC>gcT	p.A221A	GFRA3_ENST00000378362.3_Silent_p.A190A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	221					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTCGTTGGGGGCACATGGGC	0.726000													7	37					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208631716	208631716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:208631716G>A	ENST00000295417.3	-	2	2301	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	583					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTACACGTGCGACAGGGACAC	0.687000													9	75					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53454121	53454121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53454121G>A	ENST00000357666.4	-	5	1207	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H303Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGTCTACGATGGCATACAAGG	0.418000													7	94					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552500	95552500	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:95552500G>A	ENST00000371418.4	+	6	764	c.503_splice	c.e6-1	p.V168_splice	LGI1_ENST00000542308.1_Splice_Site_p.V120_splice|LGI1_ENST00000371413.3_Splice_Site_p.V168_splice	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	168					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTCTTTCAGGGACCTGAGGG	0.453000													5	22					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006308	24006308	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:24006308G>A	ENST00000328046.8	-	4	1800	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	515										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TCTCTGGGTTGTATACTTCTG	0.468000													16	59					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28605449	28605449	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:28605449C>T	ENST00000545336.1	+	14	1382	c.963C>T	c.(961-963)gtC>gtT	p.V321V	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.V291V|CCDC91_ENST00000381259.1_Silent_p.V321V|CCDC91_ENST00000539107.1_Silent_p.V285V|CCDC91_ENST00000381256.1_Silent_p.V285V			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	321	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTTTAAAAGTCGTAGAAGAAG	0.313000													7	24					0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445697	29445697	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:29445697C>T	ENST00000544604.2	+	8	1703	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	ZNRF3_ENST00000332811.4_Missense_Mutation_p.P410S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P410S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P410S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	510						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCTGCTCTTCCCCACCGTGGT	0.711000													4	29					0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36017662	36017662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36017662C>T	ENST00000452271.2	-	1	1550	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SBSN_ENST00000518157.1_Missense_Mutation_p.E165K	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	165						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCCACTTCCTTTCCAGCC	0.597000													7	86					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57428537	57428537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57428537G>A	ENST00000371100.4	+	1	769	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.V73I|GNAS_ENST00000371102.4_Missense_Mutation_p.V73I|GNAS_ENST00000306120.3_Silent_p.R9R	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACCCCCAGAGGTCTCCAGACC	0.627000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	17					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321629	106321629	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:106321629C>T	ENST00000390559.2	-	0	604																											GGTCAGGCCCCTGTGATCCAC	0.622000													5	17					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760937	62760937	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62760937C>T	ENST00000336232.2	-	10	1623	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	SLC22A8_ENST00000535878.1_Silent_p.L373L|SLC22A8_ENST00000430500.2_Silent_p.L496L|SLC22A8_ENST00000545207.1_Silent_p.L405L|SLC22A8_ENST00000311438.8_Silent_p.L496L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	496					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGGCTGATTCAGGGTCTCAG	0.592000													17	88					0	0	1	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120058	142120058	+	RNA	SNP	C	C	T	rs141013676	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142120058C>T	ENST00000390377.1	-	0	108																											AGAGTTACATCCTGTCCCCTC	0.468000													4	18					0	0	1	0	0
DNALI1	7802	broad.mit.edu	37	1	38023281	38023281	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38023281C>T	ENST00000296218.7	+	2	235	c.225C>T	c.(223-225)ccC>ccT	p.P75P	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	53					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562000													13	164					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891438	6891438	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:6891438C>T	ENST00000307322.4	+	1	515	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CATGGCTCTTCAGTTTTCCAT	0.527000													7	95					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954661	79954661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79954661C>T	ENST00000306729.7	+	7	969	c.872C>T	c.(871-873)cCc>cTc	p.P291L	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.P291L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P214L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	291							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGCCAGGATCCCCagcaggag	0.642000			T	TFE3	alveolar soft part sarcoma								18	95					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239849	21239849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21239849G>A	ENST00000380222.2	-	1	129	c.86C>T	c.(85-87)aCc>aTc	p.T29I		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	29					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGGCTGTGGGTTTGAGACAG	0.493000													4	15					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45241245	45241245	+	Missense_Mutation	SNP	G	G	A	rs145462396		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45241245G>A	ENST00000263765.4	+	7	1030	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PRDM11_ENST00000530656.1_Missense_Mutation_p.E261K|PRDM11_ENST00000424263.2_Missense_Mutation_p.E227K|PRDM11_ENST00000528980.1_3'UTR|CTD-2560E9.3_ENST00000527450.1_RNA			Q9NQV5	PRD11_HUMAN	PR domain containing 11	261	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CTGGTACAGCGAGGACTACAT	0.627000													6	27					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11742594	11742594	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:11742594C>T	ENST00000381486.2	+	17	2892	c.2592C>T	c.(2590-2592)acC>acT	p.T864T	GREB1_ENST00000234142.5_Silent_p.T864T	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	864						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTGAATCCACCCTTTCAGGAC	0.443000													18	161					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152720790	152720790	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152720790G>A	ENST00000367255.5	-	48	7799	c.7198C>T	c.(7198-7200)Cag>Tag	p.Q2400*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q2437*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q2407*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q2400*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q2407*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2400					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)		AGGCTGGCCTGGGTTTTGGAG	0.507000										HNSCC(10;0.0054)			5	70					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:187442854G>A	ENST00000406870.2	-	9	2218	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R562C|BCL6_ENST00000232014.4_Missense_Mutation_p.R618C|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	618					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								12	59					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179325827	179325827	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179325827C>T	ENST00000409117.3	+	7	1241	c.885C>T	c.(883-885)atC>atT	p.I295I	DFNB59_ENST00000375129.4_Silent_p.I295I	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	295					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGACCCATATCCGAGTTAACT	0.408000													6	108					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31911941	31911941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31911941C>T	ENST00000456570.1	+	12	1436	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.P385S|C2_ENST00000299367.5_Missense_Mutation_p.P614S|C2_ENST00000452323.2_Missense_Mutation_p.P400S|C2_ENST00000469372.1_Missense_Mutation_p.P368S|CFB_ENST00000556679.1_Missense_Mutation_p.P461S|C2_ENST00000442278.2_Missense_Mutation_p.P482S			P00751	CFAB_HUMAN	complement factor B	629	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACAGAGTGTTCCTGCTCATTT	0.502000													31	423					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274736	160274736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:160274736C>T	ENST00000264431.4	+	22	4125	c.3706C>T	c.(3706-3708)Cgc>Tgc	p.R1236C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1236					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCAGGGGGATCGCGCGTCACT	0.532000													18	68					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227886836	227886836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227886836G>A	ENST00000396625.3	-	44	4351	c.4144C>T	c.(4144-4146)Cct>Tct	p.P1382S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1379S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1382	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGCGCCCCAGGAAGGCCTGGG	0.567000													35	173					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156906636	156906636	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156906636G>A	ENST00000368194.3	-	40	5641	c.4602C>T	c.(4600-4602)agC>agT	p.S1534S	ARHGEF11_ENST00000361409.2_Silent_p.S1494S|ARHGEF11_ENST00000315174.8_Silent_p.S910S|ARHGEF11_ENST00000487682.1_5'UTR	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1494					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTCATGGCTGTTCCTGG	0.592000													9	106					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985577	108985577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:108985577C>T	ENST00000392806.3	-	2	751	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	195						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CTGGCTCCGTCCCCACCGCCC	0.687000													7	43					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349785	90349785	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90349785G>A	ENST00000300060.6	-	2	343	c.30C>T	c.(28-30)tcC>tcT	p.S10S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	10					angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGATGCCCAGGGACTTGGAAA	0.612000													16	27					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14748447	14748447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:14748447C>T	ENST00000218075.4	+	9	1729	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	GLRA2_ENST00000443437.2_Missense_Mutation_p.P311L|GLRA2_ENST00000355020.4_Missense_Mutation_p.P400L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	400					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTCCCACAACCGCCAAAAGAT	0.488000													4	20					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128814468	128814468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:128814468C>T	ENST00000270861.5	+	11	2491	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	PLK4_ENST00000514379.1_Silent_p.F698F|PLK4_ENST00000507249.1_Silent_p.F678F|PLK4_ENST00000515069.1_Silent_p.F661F|PLK4_ENST00000513090.1_Silent_p.F707F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	739					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGAAGATTTCATTCAGGTGA	0.274000													4	28					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137332422	137332422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:137332422G>A	ENST00000316649.5	-	3	627	c.392C>T	c.(391-393)cCt>cTt	p.P131L	IL20RA_ENST00000367746.3_Missense_Mutation_p.P131L|IL20RA_ENST00000468393.1_Intron|IL20RA_ENST00000367748.1_Intron|IL20RA_ENST00000541547.1_Missense_Mutation_p.P82L	NM_014432.2	NP_055247.2	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	131	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)		TTCTAAAAAAGGATAGAACCG	0.413000													6	39					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110610	46110610	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:46110610G>A	ENST00000006101.4	-	5	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	109					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CCACGTATAGGAAGAGGTCAA	0.488000													4	15					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191380	23191380	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:23191380C>T	ENST00000400191.3	+	5	996	c.978C>T	c.(976-978)tcC>tcT	p.S326S	EPHB2_ENST00000374632.3_Silent_p.S326S|EPHB2_ENST00000374627.1_Silent_p.S320S|EPHB2_ENST00000374630.3_Silent_p.S326S|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Silent_p.S326S	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	326	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCATCCCCTCCGCGCCCCAGG	0.652000													7	85					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232968	56232968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56232968G>A	ENST00000268912.5	+	1	475	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGGGTGGGGGGCTTTGTCCA	0.537000													5	45					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340338	101340338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101340338C>T	ENST00000259455.2	-	2	797	c.338G>A	c.(337-339)gGg>gAg	p.G113E		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	113					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGCTTTCAACCCTTTTGCGTT	0.473000													5	43					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122742083	122742083	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122742083C>T	ENST00000227348.4	+	10	1205	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	CRTAM_ENST00000533709.1_Silent_p.I187I	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	386					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAAAGCACATCCAAGTACCAG	0.443000													4	33					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572423	242572423	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242572423G>A	ENST00000407315.1	-	2	1580	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	383							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCTGGCTGTCGGAGCGGCTGA	0.637000													4	32					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52516652	52516652	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:52516652G>A	ENST00000242839.4	-	15	3438	c.3282C>T	c.(3280-3282)ttC>ttT	p.F1094F	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Silent_p.F1029F|ATP7B_ENST00000417240.2_Silent_p.F305F|ATP7B_ENST00000400366.3_Silent_p.F983F|ATP7B_ENST00000344297.5_Silent_p.F887F|ATP7B_ENST00000448424.2_Silent_p.F1016F|ATP7B_ENST00000400370.3_Silent_p.F664F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1094			F -> L (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCACTGCCTGGAAGTCCGTGC	0.562000									Wilson disease				13	54					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121345646	121345646	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121345646G>A	ENST00000338040.4	+	4	2433	c.2019G>A	c.(2017-2019)gaG>gaA	p.E673E		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	673					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACATTGTAGAGCACAAAACTG	0.493000													8	84					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163310176	163310176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:163310176C>T	ENST00000271452.3	+	9	908	c.629C>T	c.(628-630)tCc>tTc	p.S210F	NUF2_ENST00000524800.1_Missense_Mutation_p.S210F|NUF2_ENST00000367900.3_Missense_Mutation_p.S210F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	210	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GAGGGAAATTCCCAAAAGAAG	0.323000													9	71					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98460784	98460784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98460784C>T	ENST00000450876.1	-	2	1388	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	TMEM130_ENST00000339375.4_Missense_Mutation_p.V109I|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000546258.1_Missense_Mutation_p.V90I|TMEM130_ENST00000416379.2_Missense_Mutation_p.V109I			Q8N3G9	TM130_HUMAN	transmembrane protein 130	109						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGCAGTGACCCAGACAGAG	0.622000													5	72					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343217	130343217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:130343217C>T	ENST00000299164.2	+	8	2354	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	785	Spacer.				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)		GAGGTCCTCTCCGTGGGGAAG	0.672000													5	103					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505359	159505359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159505359C>T	ENST00000334857.2	-	1	483	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAAGGACCCACACACCAGC	0.512000													4	41					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270552	37270552	+	Silent	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37270552T>A	ENST00000373093.4	-	15	2621	c.2601A>T	c.(2599-2601)ggA>ggT	p.G867G	GRIK3_ENST00000373091.3_Intron			Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	0					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AATCTCCATTTCCCATCCTGT	0.557000													5	45					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	440029	440029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:440029G>A	ENST00000256509.2	+	25	3856	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	CHL1_ENST00000397491.2_Missense_Mutation_p.D1056N	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1056					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGGCGATAATGATAGCATTTT	0.383000													7	26					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36303284	36303284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36303284G>A	ENST00000301175.3	-	3	594	c.577C>T	c.(577-579)Ccg>Tcg	p.P193S		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	193					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGAGTCCGGCTCCTCCTCA	0.662000													5	81					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758215	207758215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207758215C>T	ENST00000367049.4	+	33	5524	c.5524C>T	c.(5524-5526)Cgt>Tgt	p.R1842C	RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.R1392C|CR1_ENST00000367052.1_Missense_Mutation_p.R1392C|CR1_ENST00000400960.2_Missense_Mutation_p.R1392C|CR1_ENST00000367053.1_Missense_Mutation_p.R1392C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1392	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACTTTCTGTTCGTGCTGGTCA	0.488000													4	20					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602000													25	160					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041402	234041402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:234041402G>A	ENST00000366618.3	+	2	326	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCGCTCCGTGGAGGATCTCAC	0.637000													4	65					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9333681	9333681	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:9333681G>A	ENST00000261336.2	-	15	1765	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	PZP_ENST00000381997.2_Silent_p.A448A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CTTGCAGGTGGGCATGTGAGG	0.547000													4	21					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147721	100147721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:100147721G>A	ENST00000231461.5	-	5	1220	c.910C>T	c.(910-912)Cct>Tct	p.P304S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	304					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AAATCCTTAGGGAAGGGCCAG	0.378000													4	27					0	0	1	0	0
MRPL46	26589	broad.mit.edu	37	15	89002984	89002984	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:89002984A>T	ENST00000312475.4	-	4	741	c.700T>A	c.(700-702)Ttc>Atc	p.F234I	MRPL46_ENST00000559538.1_5'UTR	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	234						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGTGCTTTGAAGAAGAACACC	0.498000													5	44					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659030	50659030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50659030C>T	ENST00000439308.2	-	16	4250	c.3758G>A	c.(3757-3759)gGg>gAg	p.G1253E	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.G1253E|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1253	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGGCTCCCCCAAGCTGAT	0.632000													4	39					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42729662	42729662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42729662G>A	ENST00000287777.4	+	2	1281	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_152393.2	NP_689606.2			kelch-like family member 40																		GAGTGGCTGGGGATGCCACCG	0.657000													8	58					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343954	72343954	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:72343954T>C	ENST00000299687.5	+	1	979	c.979T>C	c.(979-981)Ttt>Ctt	p.F327L	ZNF407_ENST00000582337.1_Missense_Mutation_p.F327L|ZNF407_ENST00000309902.6_Missense_Mutation_p.F327L|ZNF407_ENST00000577538.1_Missense_Mutation_p.F327L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAAGCACGTTTAAAGATTT	0.353000													5	90					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456402	60456402	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:60456402G>A	ENST00000371201.3	-	12	1691	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	C1orf87_ENST00000395552.1_Silent_p.F162F|C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Silent_p.F299F	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	528							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTCCCGAACGGAATCTGCGCA	0.483000													20	52					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133465	55133465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:55133465G>A	ENST00000257290.5	+	6	1100	c.769G>A	c.(769-771)Ggc>Agc	p.G257S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	257	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAAGGCAAAGGCATCACAAT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			4	44					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16045048	16045048	+	Silent	SNP	C	C	T	rs140733161		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16045048C>T	ENST00000326742.7	-	1	172	c.171G>A	c.(169-171)caG>caA	p.Q57Q	CYP4F11_ENST00000248041.7_Silent_p.Q57Q|CYP4F11_ENST00000402119.3_Silent_p.Q57Q			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	57					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AAAACCAGTTCTGTTTCGGGG	0.612000													4	53					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246977	89246977	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89246977C>T	ENST00000496168.1	-	0	373																											AGCTTAGGGGCTTTCCCTGGT	0.522000													4	42					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35538187	35538187	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:35538187G>A	ENST00000353139.5	-	40	5368	c.4887C>T	c.(4885-4887)tcC>tcT	p.S1629S	ACACA_ENST00000394406.2_Silent_p.S1592S|ACACA_ENST00000360679.3_Silent_p.S1534S|ACACA_ENST00000335166.5_Silent_p.S1514S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1592					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)	TTGTCCCTAAGGATTGTGCCT	0.453000													23	89					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960660	50960660	+	Missense_Mutation	SNP	C	C	T	rs143986871	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50960660C>T	ENST00000395701.3	+	14	1307	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	NCAPH2_ENST00000299821.11_Missense_Mutation_p.R405W|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000420993.2_Missense_Mutation_p.R405W			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	405					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAACTCTCCGGAAGCTGCA	0.607000													4	51					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494115	57494115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:57494115C>T	ENST00000351747.2	-	7	875	c.695G>A	c.(694-696)gGa>gAa	p.G232E	DNAH12_ENST00000311202.6_Missense_Mutation_p.G232E|DNAH12_ENST00000389536.4_Missense_Mutation_p.G232E	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	232	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTACCTAATTCCTGTGAAGTC	0.294000													4	20					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15808769	15808769	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:15808769G>A	ENST00000375910.3	+	4	262	c.237G>A	c.(235-237)ggG>ggA	p.G79G	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	79	Peptidase S1.		G -> R (in dbSNP:rs3820071).		proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GCTCCTCCGGGATCTACCGCG	0.567000													5	67					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17692109	17692109	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17692109C>T	ENST00000252599.4	+	12	1845	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		AGACCTCAGTCGTATGGAACA	0.597000													20	96					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134898364	134898364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134898364C>T	ENST00000607359.1	+	8	1426	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	224						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCTGAGCCTCCCTGAGGAGGA	0.642000													5	38					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385973	65385973	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65385973C>T	ENST00000355703.3	+	6	1679	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	380						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CGCTCCTGGTCGTGCGGCCCA	0.682000													5	14					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049786	102049786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102049786G>A	ENST00000318222.3	-	14	2618	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	PKD2L1_ENST00000338519.3_Missense_Mutation_p.P671S|PKD2L1_ENST00000353274.3_Missense_Mutation_p.P746S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	746					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCTGGGGAGGGAGCCAGCCAC	0.557000													7	96					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4643876	4643876	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4643876C>T	ENST00000433935.1	+	2	90	c.33C>T	c.(31-33)ttC>ttT	p.F11F	ZMYND15_ENST00000592813.1_Silent_p.F11F|ZMYND15_ENST00000573751.2_Silent_p.F11F|ZMYND15_ENST00000269289.6_Silent_p.F11F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	11							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GGGATGAGTTCCTTGATTTCA	0.577000													15	99					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438353	204438353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204438353G>A	ENST00000367187.3	-	3	1134	c.578C>T	c.(577-579)tCt>tTt	p.S193F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S193F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	193	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTCGACCAAAGAGAAAGTGTT	0.592000													49	200					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129293293	129293293	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129293293G>A	ENST00000393239.1	-	12	2749	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	PLXND1_ENST00000324093.4_Silent_p.S857S			Q9Y4D7	PLXD1_HUMAN	plexin D1	857					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCAGGCACTGGGAACAGTCGG	0.687000													5	28					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505260	70505260	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:70505260C>T	ENST00000310961.5	+	22	4072	c.3654C>T	c.(3652-3654)tcC>tcT	p.S1218S	LRRC7_ENST00000035383.5_Silent_p.S1213S|LRRC7_ENST00000415775.2_Silent_p.S497S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1213						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACGGTGCCTCCCAAACCAGGC	0.463000													5	18					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109366204	109366204	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109366204C>T	ENST00000370001.3	-	12	2311	c.2043G>A	c.(2041-2043)agG>agA	p.R681R	AKNAD1_ENST00000369994.1_Silent_p.R651R|AKNAD1_ENST00000369995.3_Silent_p.R681R|AKNAD1_ENST00000357393.4_Silent_p.R388R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	681										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTGGTTCTTTCCTGCAGGCTC	0.463000													9	47					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142399932	142399932	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:142399932G>A	ENST00000258042.1	-	2	671	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ACACCGCTTCGGGAACTGCCA	0.517000													5	13					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:47730390C>T	ENST00000455779.1	+	30	3158	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	PHKB_ENST00000566044.1_Silent_p.I991I|PHKB_ENST00000323584.5_Silent_p.I998I|PHKB_ENST00000299167.8_Silent_p.I998I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423000													3	17					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987516	22987516	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22987516C>T	ENST00000509305.1	+	3	739	c.393C>T	c.(391-393)ccC>ccT	p.P131P	C1QB_ENST00000314933.6_Silent_p.P133P			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	133	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAACGTCCCCCTGCGCCGGG	0.607000													19	84					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25464920	25464920	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:25464920T>A	ENST00000376351.3	+	1	930	c.571T>A	c.(571-573)Ttc>Atc	p.F191I	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	191						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCCACAGGTCTTCCTCCAGGC	0.682000													8	20					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56379215	56379215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56379215G>A	ENST00000301295.6	+	6	2749	c.2327G>A	c.(2326-2328)aGc>aAc	p.S776N	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.S701N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	776							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCCTGTGCAGCCCAGACACG	0.537000													9	44					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31572946	31572946	+	Nonsense_Mutation	SNP	G	G	A	rs147686372		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31572946G>A	ENST00000356173.3	-	12	1035	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	SUN5_ENST00000375523.3_Nonsense_Mutation_p.Q290*	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	315	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGCTGAAACTGAAATGCCCCC	0.567000													11	72					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353687	45353687	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45353687C>T	ENST00000359271.2	+	2	262	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	4						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TAGGCCACTCCCCACCTGTCC	0.507000													5	81					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66793834	66793834	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:66793834G>A	ENST00000307961.6	-	6	647	c.555C>T	c.(553-555)gcC>gcT	p.A185A	RPL4_ENST00000568588.1_Silent_p.A91A	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	185					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCGCTGAGAGGCATAGACCT	0.408000													27	47					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205065952	205065952	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205065952G>A	ENST00000264515.6	-	12	1395	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	RBBP5_ENST00000367164.1_Silent_p.P418P	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	418					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CATCCGGTGGGGGGCCGTAAG	0.502000													10	123					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674981	39674981	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39674981C>T	ENST00000254043.3	-	1	3684	c.99G>A	c.(97-99)ggG>ggA	p.G33G	KRT15_ENST00000393974.3_5'UTR|KRT15_ENST00000393976.2_Silent_p.G33G	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	33	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGAGAGACTCCCCCCACCAA	0.587000													7	63					0	0	1	0	0
TPSB2	64499	broad.mit.edu	37	16	1279642	1279642	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1279642C>T	ENST00000430512.2	-	0	209				TPSB2_ENST00000339687.6_RNA|TPSB2_ENST00000445910.1_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				CATCCAGTATCGGTCGCGGAC	0.701000													5	56					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346536	56346536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:56346536G>A	ENST00000331886.5	+	21	2216	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.D588N|DGKA_ENST00000551156.1_Missense_Mutation_p.D588N	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	588					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GAAACCGCTGGATCTGAGCAA	0.562000													15	89					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120182982	120182982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:120182982C>T	ENST00000450251.1	+	8	1479	c.935C>T	c.(934-936)tCc>tTc	p.S312F	USP53_ENST00000274030.6_Missense_Mutation_p.S312F			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	312					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACCAAAAGTTCCAAATGGGTA	0.313000													4	33					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332565	16332565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16332565G>A	ENST00000329454.2	+	2	302	c.234G>A	c.(232-234)atG>atA	p.M78I		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	78										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCAATGAAGACCTACA	0.627000													30	109					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46800960	46800960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46800960C>T	ENST00000230588.4	+	11	1303	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	432	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AACCCCCTGCCCCACAGGGGT	0.517000													4	52					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59821888	59821888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:59821888C>T	ENST00000395125.1	+	20	2415	c.2392C>T	c.(2392-2394)Cgt>Tgt	p.R798C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R798C|DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Missense_Mutation_p.R788C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	798	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAGCAATTCGTTCTGGCTC	0.378000													8	25					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089602	10089602	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10089602T>C	ENST00000287647.3	+	16	1373	c.1278_splice	c.e16-1	p.V427_splice	FANCD2_ENST00000383806.1_Splice_Site_p.V427_splice|FANCD2_ENST00000383807.1_Splice_Site_p.V427_splice|FANCD2_ENST00000419585.1_Splice_Site_p.V427_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	427					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCACTCAAGGTTCTTAAGGAT	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	171					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40835847	40835847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40835847G>A	ENST00000264638.4	+	2	293	c.76G>A	c.(76-78)Gac>Aac	p.D26N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	26	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACGGCTGCGACGAGGAGCT	0.642000													5	35					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612707	53612707	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53612707G>A	ENST00000455735.2	-	7	1055	c.735C>T	c.(733-735)ttC>ttT	p.F245F	ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Silent_p.F197F|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000448501.1_Silent_p.F245F|ZNF415_ENST00000500065.4_Silent_p.F197F|ZNF415_ENST00000440291.1_Silent_p.F184F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.F209F			Q09FC8	ZN415_HUMAN	zinc finger protein 415	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AAGAACAGATGAAATCAGTCC	0.378000													8	48					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824625	114824625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:114824625C>T	ENST00000315366.7	-	2	1471	c.605G>A	c.(604-606)gGa>gAa	p.G202E	ARSJ_ENST00000541197.1_Missense_Mutation_p.G202E	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	202						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATCCCCACTTCCCAAAAGGGA	0.433000													6	98					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6928183	6928183	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6928183C>T	ENST00000312053.4	+	17	2287	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	EMR1_ENST00000250572.8_Silent_p.F685F|EMR1_ENST00000381404.4_Silent_p.F698F|EMR1_ENST00000450315.3_Silent_p.F573F|EMR1_ENST00000381407.5_Silent_p.F609F	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	750					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F750F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGACAGGGTTCATCTGGAGTT	0.498000													18	116					0	0	1	0	0
ADC	113451	broad.mit.edu	37	1	33558919	33558919	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:33558919C>T	ENST00000294517.6	+	7	1076	c.489C>T	c.(487-489)tcC>tcT	p.S163S	ADC_ENST00000373440.1_Intron|ADC_ENST00000358680.3_Intron|ADC_ENST00000398167.1_Silent_p.S163S|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Silent_p.S163S|ADC_ENST00000373443.3_Silent_p.S163S	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	163					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	ACTCCCACTCCCTGAGCTGCC	0.557000													11	60					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7026767	7026767	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7026767C>T	ENST00000535366.1	+	5	959	c.333C>T	c.(331-333)atC>atT	p.I111I	ENO2_ENST00000541477.1_Silent_p.I111I|ENO2_ENST00000229277.1_Silent_p.I111I|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Silent_p.I68I|ENO2_ENST00000544774.1_Silent_p.I68I			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	111					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCAATGCCATCCTGGGTGTGT	0.572000													19	94					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43837178	43837178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43837178G>A	ENST00000372781.3	+	2	1297	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	SEMG1_ENST00000244069.6_Missense_Mutation_p.E354K	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TACAAATAGAGAACAAGACCT	0.443000													3	20					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270553	37270553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37270553C>T	ENST00000373093.4	-	15	2620	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E	GRIK3_ENST00000373091.3_Intron			Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	0					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATCTCCATTTCCCATCCTGTG	0.562000													5	45					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39435916	39435916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39435916C>T	ENST00000273158.4	+	6	1018	c.641C>T	c.(640-642)aCc>aTc	p.T214I		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	214					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGGATGCAACCCTTATTCCT	0.408000													17	123					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206239489	206239489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:206239489C>T	ENST00000331555.5	-	6	1047	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	137						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCTGTGATTTCCTTTATGTTC	0.438000													11	32					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17612167	17612167	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17612167G>A	ENST00000252595.7	+	11	1819	c.1722G>A	c.(1720-1722)aaG>aaA	p.K574K	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Silent_p.K574K|SLC27A1_ENST00000598424.1_Silent_p.K395K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	574					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGCTGCAGAAGGTGCTGGCAC	0.642000													9	55					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766188	13766188	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13766188T>A	ENST00000265104.4	-	59	10102	c.9998A>T	c.(9997-9999)aAa>aTa	p.K3333I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3333	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCACTGACTTTCCTTTGAAA	0.498000									Kartagener syndrome				6	46					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128757682	128757682	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128757682G>A	ENST00000436022.2	+	7	1599	c.288G>A	c.(286-288)tcG>tcA	p.S96S	EFCC1_ENST00000480450.1_Silent_p.S533S	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		AGAACATATCGAAAAGAGCCC	0.552000													9	74					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9026256	9026256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9026256C>T	ENST00000397910.4	-	14	36933	c.36730G>A	c.(36730-36732)Gag>Aag	p.E12244K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12246	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E12244*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTCCTCCTCGTACTGCAGG	0.532000													9	85					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50929170	50929170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:50929170C>T	ENST00000442544.2	+	19	3458	c.2842C>T	c.(2842-2844)Ccc>Tcc	p.P948S	DCC_ENST00000412726.1_Missense_Mutation_p.P776S|DCC_ENST00000581580.1_Missense_Mutation_p.P583S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	948	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCTCTGCTCCCAAGGACTT	0.463000													5	103					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105381	160105381	+	Missense_Mutation	SNP	G	G	A	rs147183887		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160105381G>A	ENST00000361216.3	+	16	2362	c.2273G>A	c.(2272-2274)gGg>gAg	p.G758E	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.G758E	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	758					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATCGTCACGGGGGTGGAGGAG	0.562000													7	47					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4304796	4304796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4304796C>T	ENST00000404826.2	+	45	6561	c.6422C>T	c.(6421-6423)tCc>tTc	p.S2141F	SDK1_ENST00000389531.3_Missense_Mutation_p.S2121F|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	2141					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAAGCACTCCTTCGTGAAC	0.682000													5	21					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285991	152285991	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152285991C>T	ENST00000368799.1	-	3	1406	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	457	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCCCTGACCGGCCACGTG	0.587000									Ichthyosis				23	155					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961765	99961765	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:99961765G>A	ENST00000297565.4	+	2	1081	c.585G>A	c.(583-585)acG>acA	p.T195T	OSR2_ENST00000522510.1_Silent_p.T195T|OSR2_ENST00000457907.2_Silent_p.T316T|OSR2_ENST00000523368.1_Silent_p.T195T|OSR2_ENST00000435298.2_Silent_p.T195T	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	195					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACCCACACGGACGAGAGGC	0.537000													11	137					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683344	218683344	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218683344G>A	ENST00000171887.4	-	24	3851	c.3399C>T	c.(3397-3399)agC>agT	p.S1133S	TNS1_ENST00000430930.1_Silent_p.S1112S|TNS1_ENST00000419504.1_Silent_p.S1120S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1133	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GAGGAGAAGAGCTCTGGTAGT	0.622000													4	57					0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17478672	17478672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17478672G>A	ENST00000541323.1	+	4	911	c.466G>A	c.(466-468)Gac>Aac	p.D156N	PDGFRL_ENST00000251630.6_Missense_Mutation_p.D156N|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D156N	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	156	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTGCAGGAAGGACGAGGCCAA	0.527000													4	29					0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41555131	41555131	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:41555131C>T	ENST00000373060.1	+	7	1211	c.753C>T	c.(751-753)gaC>gaT	p.D251D	FOXP4_ENST00000409208.1_Silent_p.D251D|FOXP4_ENST00000373063.3_Silent_p.D250D|FOXP4_ENST00000373057.3_Silent_p.D249D|FOXP4_ENST00000307972.4_Silent_p.D251D	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	251					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					AGGGGCTGGACCTCACTGGCA	0.687000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	83					0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213046070	213046070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:213046070C>T	ENST00000366971.4	+	3	1132	c.934C>T	c.(934-936)Caa>Taa	p.Q312*		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	312					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		AGCAGCTCTTCAAGACAGTCC	0.353000													5	25					0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41170058	41170058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41170058G>A	ENST00000355653.3	-	3	856	c.761C>T	c.(760-762)cCt>cTt	p.P254L	VAT1_ENST00000420567.3_Missense_Mutation_p.P120L|VAT1_ENST00000587173.1_Missense_Mutation_p.P186L	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	254						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCACCTTTAGGGGAAATCTT	0.552000													8	60					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760053	152760053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152760053C>T	ENST00000368770.3	+	2	331	c.278C>T	c.(277-279)tCt>tTt	p.S93F	LCE1E_ENST00000368771.1_Missense_Mutation_p.S93F	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	93	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCAGAGCTCTGACTGCTGC	0.667000													9	97					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273637	212273637	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:212273637G>A	ENST00000366991.4	+	14	1619	c.1305G>A	c.(1303-1305)agG>agA	p.R435R	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.R393R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	435					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAGCCCCCAGGGCAAAGTGCA	0.493000													5	32					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068524	48068524	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48068524T>A	ENST00000297325.4	-	1	171	c.12A>T	c.(10-12)aaA>aaT	p.K4N	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.K4N|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	4						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCTTTGTTTTTCCACTCA	0.433000													5	39					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39409116	39409116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39409116G>A	ENST00000221431.6	-	9	1021	c.862C>T	c.(862-864)Cct>Tct	p.P288S	SARS2_ENST00000600042.1_Missense_Mutation_p.P290S|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.P357L|SARS2_ENST00000448145.2_Missense_Mutation_p.P288S|SARS2_ENST00000430193.3_Missense_Mutation_p.P288S|SARS2_ENST00000594171.1_Missense_Mutation_p.P98S	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	288					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AAGCGGGCAGGGTCGATGTTG	0.592000													5	70					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176655	8176655	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8176655C>T	ENST00000600128.1	-	32	4376		c.e32-1		FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site			Q75N90	FBN3_HUMAN	fibrillin 3							proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCATCCAGGTCTGCAGGAGAT	0.637000													10	58					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699339	60699339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60699339C>T	ENST00000005286.4	+	6	1351	c.1198C>T	c.(1198-1200)Ctt>Ttt	p.L400F	TMEM132A_ENST00000453848.2_Missense_Mutation_p.L399F	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	399						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCAGAGCCCTTATCCCACT	0.627000													11	78					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55373778	55373778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55373778C>T	ENST00000536015.1	-	3	342	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E75K|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	75					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGAGGTTGTTCGTGGTACTTG	0.328000													4	21					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21039976	21039976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:21039976G>A	ENST00000247986.2	-	3	761	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	KIF17_ENST00000400463.3_Missense_Mutation_p.L151F|KIF17_ENST00000375044.1_Missense_Mutation_p.L51F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	151	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCAGCCCCAAGGAGGTCCCGG	0.582000													6	17					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117685180	117685180	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:117685180G>A	ENST00000317775.6	-	18	3481	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.F966F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	932	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCAGGTCCTGAAAGCCTCTT	0.547000													8	75					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580782	44580782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44580782C>T	ENST00000245121.5	+	3	283	c.89C>T	c.(88-90)cCg>cTg	p.P30L	KATNAL2_ENST00000356157.7_Missense_Mutation_p.P102L|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	102	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P30L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388000													6	102					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64363779	64363779	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:64363779C>T	ENST00000476120.1	+	1	155	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ZNF273_ENST00000319636.5_Intron|ZNF273_ENST00000527278.1_Intron|ZNF273_ENST00000545510.1_5'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CGCCAGGACTCCCTGGAAGCC	0.597000													4	80					0	0	1	0	0
MTERF	7978	broad.mit.edu	37	7	91503562	91503562	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:91503562G>A	ENST00000419292.1	-	2	562	c.486C>T	c.(484-486)ttC>ttT	p.F162F	MTERF_ENST00000351870.3_Silent_p.F182F|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000406735.2_Silent_p.F162F			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	182		Interaction with DNA.			DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			CTGAGTAGAGGAACTTTATAT	0.378000													4	25					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4479941G>A	ENST00000237837.1	-	3	469	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000													12	69					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302627	15302627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15302627C>T	ENST00000263388.2	-	5	806	c.731G>A	c.(730-732)cGa>cAa	p.R244Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	244	EGF-like 6; calcium-binding (Potential).		Missing (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ATTGAGACATCGGTGTCCTGG	0.617000													6	66					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191833	5191833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:5191833C>T	ENST00000274181.7	+	8	1381	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R415C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	415	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAGTAAATATCGCAGCTGCAC	0.418000													10	28					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139144923G>A	ENST00000395297.1	-	20	4304	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1378										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)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)			10	160					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095614	179095614	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179095614G>A	ENST00000502732.1	-	4	788	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ABL2_ENST00000507173.1_Silent_p.F174F|ABL2_ENST00000512653.1_Silent_p.F180F|ABL2_ENST00000392043.3_Silent_p.F174F|ABL2_ENST00000408940.3_Silent_p.F159F|ABL2_ENST00000504405.1_Silent_p.F159F|ABL2_ENST00000511413.1_Silent_p.F195F|ABL2_ENST00000344730.3_Silent_p.F180F|ABL2_ENST00000367623.4_Silent_p.F174F	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	195	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTCGCACCAGGAAGCTGCCAT	0.537000			T	ETV6	AML								11	69					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175451	117175451	+	Missense_Mutation	SNP	G	G	A	rs121908804		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:117175451G>A	ENST00000003084.6	+	6	861	c.729G>A	c.(727-729)atG>atA	p.M243I	CFTR_ENST00000454343.1_Missense_Mutation_p.M243I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	243	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.M243I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TAGGGAGAATGATGATGAAGT	0.423000									Cystic Fibrosis				4	15					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6195421	6195421	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6195421C>T	ENST00000262450.3	-	18	2838	c.2739G>A	c.(2737-2739)aaG>aaA	p.K913K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	913					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTGGTCTTCCTTGGAGATGT	0.592000													5	61					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65184496	65184496	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:65184496G>A	ENST00000358691.5	-	12	1267	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	HELZ_ENST00000580168.1_Silent_p.F367F	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCCAAAGTCGAAAACTATGG	0.368000													10	92					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636216	15636216	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15636216G>A	ENST00000269703.2	+	3	268	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYP4F22_ENST00000601005.2_Silent_p.A23A	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	23						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCATATACGCGGTGTCCACCC	0.642000													8	41					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6666365	6666365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:6666365G>A	ENST00000541778.1	-	16	2709	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	NOP2_ENST00000382421.3_Missense_Mutation_p.H778Y|NOP2_ENST00000399466.2_Missense_Mutation_p.H741Y|NOP2_ENST00000537442.1_Missense_Mutation_p.H745Y|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.H745Y			P46087	NOP2_HUMAN	NOP2 nucleolar protein	745					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GGCTGATGATGGTCCTTAGGT	0.547000													26	238					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65061632	65061632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65061632C>T	ENST00000265465.3	+	14	1784	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	POLA2_ENST00000541089.1_Missense_Mutation_p.S210F	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	418					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGCTCCGGCTCCCACCTTGTC	0.522000													32	446					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80467379	80467379	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:80467379C>T	ENST00000539156.1	+	9	2887	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.L287L|FAH_ENST00000561421.1_Silent_p.L287L|FAH_ENST00000407106.1_Silent_p.L287L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	287					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCCGTATCTGTGCCATGA	0.592000									Tyrosinemia, type 1				8	114					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978763	58978763	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58978763C>A	ENST00000361050.3	-	1	1661	c.1576G>T	c.(1576-1578)Gtc>Ttc	p.V526F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	526						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CCAAAGGGGACCGCAAACCTG	0.517000													16	34					2.23348e-06	2.26713e-06	1	1	0
WEE2	494551	broad.mit.edu	37	7	141408849	141408849	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141408849A>G	ENST00000397541.2	+	1	697	c.291A>G	c.(289-291)caA>caG	p.Q97Q	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	97					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACCAGCCCAACCAGACAGCA	0.527000													11	49					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468838	160468838	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:160468838C>T	ENST00000356956.1	+	17	2392	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	748					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGATAACTCCACCTACAACT	0.542000													13	70					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98917635	98917635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98917635C>T	ENST00000266058.4	-	4	598	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	SLIT1_ENST00000371041.3_Missense_Mutation_p.R118Q|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R118Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	118					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGCTGGTTTCGGTTCAGTCG	0.483000													12	150					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168274352	168274352	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:168274352C>T	ENST00000367821.3	+	6	885	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	278					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CCCACCATGGCTGTGAGCACT	0.562000													20	97					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232932	56232932	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56232932T>G	ENST00000268912.5	+	1	439	c.418T>G	c.(418-420)Ttg>Gtg	p.L140V		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAACACTCAATTGTGTGTGGG	0.542000													4	40					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171621638	171621638	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:171621638C>T	ENST00000037502.5	-	1	173	c.114G>A	c.(112-114)agG>agA	p.R38R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	38					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATTGGCCTTCCTGAGCTGAG	0.607000													5	29					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727209	181727209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181727209G>A	ENST00000526775.1	+	30	4564	c.4399G>A	c.(4399-4401)Gcc>Acc	p.A1467T	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1418T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1486T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1437T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1467T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A1093T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1486T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1486					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCATTATGGCCATGATCGC	0.557000													9	29					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677856	73677856	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73677856T>C	ENST00000264448.6	+	8	4310	c.4199T>C	c.(4198-4200)cTa>cCa	p.L1400P	ALMS1_ENST00000377715.1_Missense_Mutation_p.L1400P|ALMS1_ENST00000409009.1_Missense_Mutation_p.L1358P	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1400	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTAGTCATCTAACTGAAGAG	0.473000													3	31					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499303	150499303	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150499303G>A	ENST00000484928.1	+	3	756	c.174_splice	c.e3-1	p.V59_splice	TMEM176A_ENST00000004103.3_Splice_Site_p.V59_splice|TMEM176A_ENST00000461345.1_5'UTR			Q96HP8	T176A_HUMAN	transmembrane protein 176A	59						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCTTTCAGGTGATGCAGAT	0.547000													7	64					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107505	6107505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:6107505C>T	ENST00000409021.3	-	3	768	c.319G>A	c.(319-321)Gag>Aag	p.E107K	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E107K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E107K|JAKMIP1_ENST00000409371.3_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	107	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTCGCCCTCCTTGATCTTG	0.711000													5	27					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131151038	131151038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:131151038C>T	ENST00000352689.6	+	15	1832	c.1792C>T	c.(1792-1794)Cat>Tat	p.H598Y	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.H506Y	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	598					signal transduction	cytoplasm	protein binding	p.H598D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTATAGGTTCATTACTTATT	0.358000													8	86					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71743079	71743079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71743079G>A	ENST00000318442.5	-	4	2180	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCTTGGGAATGAAGGCCCCGC	0.502000													5	51					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32620836	32620836	+	Missense_Mutation	SNP	C	C	T	rs76490775		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32620836C>T	ENST00000521670.1	+	12	1477	c.1369C>T	c.(1369-1371)Cat>Tat	p.H457Y	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron			Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTCCATTCCCCATTTGGGCTT	0.423000													8	52					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12284868	12284868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12284868G>A	ENST00000261349.4	-	18	3933	c.3857C>T	c.(3856-3858)cCt>cTt	p.P1286L	LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1286	LDL-receptor class A 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGAGCATACAGGACAATTGAG	0.498000													22	266					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103011069	103011069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103011069G>A	ENST00000409599.1	+	11	1608	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	IL18R1_ENST00000233957.1_Missense_Mutation_p.D418N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	418	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ATTTGAAAGGGATGTAGTGCC	0.423000													9	19					0	0	1	0	0
IFNE	338376	broad.mit.edu	37	9	21481691	21481691	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:21481691C>T	ENST00000448696.3	-	1	621	c.3G>A	c.(1-3)atG>atA	p.M1I	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	1					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						GCTTGATAATCATGGTGAAGG	0.403000													4	21					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556384	48556384	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:48556384C>T	ENST00000435803.1	+	52	13728	c.13704C>T	c.(13702-13704)ttC>ttT	p.F4568F	ABCA13_ENST00000544596.1_Silent_p.F298F	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4568					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACGTGGCTTTCATTTCCTATG	0.408000													4	40					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626746	232626746	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:232626746G>A	ENST00000366630.1	-	4	2038	c.1680C>T	c.(1678-1680)acC>acT	p.T560T	SIPA1L2_ENST00000262861.4_Silent_p.T560T|SIPA1L2_ENST00000486472.1_5'UTR			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	560					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCCTCGTGCGGTACCATGCC	0.453000													4	23					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65358037	65358037	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65358037C>T	ENST00000309295.4	+	16	4522	c.4257C>T	c.(4255-4257)atC>atT	p.I1419I		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1419										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGCTCTCATCCGGAGGCAGG	0.567000													6	36					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111135	7111135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:7111135G>A	ENST00000306904.5	+	1	971	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	262	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGACCGAGACGGCTACGGAGG	0.667000													7	25					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155561811	155561811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:155561811G>A	ENST00000461783.3	+	18	4589	c.3316G>A	c.(3316-3318)Gag>Aag	p.E1106K	TIAM2_ENST00000360366.4_Missense_Mutation_p.E1130K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1106K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1106K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E482K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E418K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E442K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1106K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E31K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1106	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGTCATCCAGGAGCTTGTGGA	0.572000													6	60					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110293935	110293935	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110293935G>A	ENST00000369805.3	-	17	1834	c.1605C>T	c.(1603-1605)gtC>gtT	p.V535V	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.V504V|EPS8L3_ENST00000361965.4_Silent_p.V534V	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	534						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCCAGTCTGTGACCTCTTCAG	0.537000													11	39					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421564	115421564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:115421564G>A	ENST00000337530.6	+	4	1662	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	KIAA1958_ENST00000536272.1_Missense_Mutation_p.E484K	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	456										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GAAGTTGAACGAGCTGCTCGA	0.547000													7	59					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31598300	31598300	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31598300G>A	ENST00000379416.3	-	15	1596	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287).	purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAACTTGAAGAAGAAGCTGA	0.597000													29	82					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6318824	6318824	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:6318824T>G	ENST00000264870.3	-	2	339	c.74A>C	c.(73-75)gAt>gCt	p.D25A		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	25					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCAGGTCATCTTCCGCTGC	0.552000													6	116					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857312	113857312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:113857312G>A	ENST00000504030.2	+	7	1223	c.778G>A	c.(778-780)Gac>Aac	p.D260N	HTR3A_ENST00000535865.1_Missense_Mutation_p.D4N|HTR3A_ENST00000299961.5_Missense_Mutation_p.D245N|HTR3A_ENST00000375498.2_Missense_Mutation_p.D266N|HTR3A_ENST00000355556.2_Missense_Mutation_p.D266N|HTR3A_ENST00000506841.2_Missense_Mutation_p.D260N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	260					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CATGGTCATGGACATCGTGGG	0.577000													8	64					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211770	90211770	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:90211770C>T	ENST00000390277.2	+	0	128																											TCTCTTCCTCCTGCTACTCTG	0.517000													4	60					0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118769	194118769	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194118769G>A	ENST00000401815.1	-	1	314	c.243C>T	c.(241-243)atC>atT	p.I81I	GP5_ENST00000323007.3_Silent_p.I81I			P40197	GPV_HUMAN	glycoprotein V (platelet)	81					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGCTGTCGGAGATCATGAGGC	0.597000													7	80					0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7891518	7891518	+	Missense_Mutation	SNP	C	C	T	rs137853062		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:7891518C>T	ENST00000264668.2	+	10	1472	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	MTRR_ENST00000440940.2_Missense_Mutation_p.S454L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	481	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGACCATATTCGTGTGCAAGG	0.294000													8	37					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767510	143767510	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:143767510G>A	ENST00000419275.1	-	1	371	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	113	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAGTGCAGATGAAAAACTGGG	0.478000													7	169					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40933060	40933060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40933060C>T	ENST00000246914.5	+	1	365	c.344C>T	c.(343-345)cCt>cTt	p.P115L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	115					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGGGAGCCCCTGTGAAGGCT	0.716000													7	19					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21948002	21948002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:21948002G>A	ENST00000406877.3	-	4	706	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.R109*|CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.R97*	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	143					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						AAGGCTACTCGAAGACCAATA	0.453000													4	35					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187531446	187531446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:187531446C>T	ENST00000261023.3	+	22	2456	c.2182C>T	c.(2182-2184)Cgt>Tgt	p.R728C	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.R682C|ITGAV_ENST00000374907.3_Missense_Mutation_p.R692C	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	728					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		AGCTGGTCTTCGTTTCAGTGT	0.323000													7	40					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17369153	17369153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17369153C>T	ENST00000252597.3	-	8	1261	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	USHBP1_ENST00000431146.2_Missense_Mutation_p.R299Q	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	363							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTCGGCCTCCCGCAGAGCAAG	0.592000													4	73					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062607	46062607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46062607G>A	ENST00000309285.3	-	2	1189	c.833C>T	c.(832-834)tCc>tTc	p.S278F	XCR1_ENST00000542109.1_Missense_Mutation_p.S278F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	278					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAGCAGTGGGAGAAGGCGAG	0.577000													5	25					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126133133	126133133	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:126133133C>T	ENST00000373631.3	+	7	1802	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	CRB2_ENST00000373629.2_Silent_p.L269L|CRB2_ENST00000359999.3_Silent_p.L601L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	601	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAACGTCCTCCTGGGCTGTGA	0.657000													8	33					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61570796	61570796	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61570796G>A	ENST00000577647.1	+	9	1235		c.e9-1		ACE_ENST00000428043.1_Splice_Site|ACE_ENST00000490216.2_Splice_Site|ACE_ENST00000421982.2_Splice_Site|ACE_ENST00000413513.3_Splice_Site|ACE_ENST00000290863.6_Splice_Site|ACE_ENST00000290866.4_Splice_Site			P12821	ACE_HUMAN	angiotensin I converting enzyme						arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTATTCCTAGGATCAAGCAG	0.562000													13	85					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86283740	86283740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86283740G>A	ENST00000370571.2	-	46	4186	c.3820C>T	c.(3820-3822)Cct>Tct	p.P1274S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1274S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1274	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTCCCAGAAGGACCAGGAGCT	0.408000													11	103					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277724	152277724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152277724G>A	ENST00000368799.1	-	3	9673	c.9638C>T	c.(9637-9639)tCc>tTc	p.S3213F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCACACTGGATCCCTGGCG	0.557000									Ichthyosis				14	135					0	0	1	0	0
PHF13	148479	broad.mit.edu	37	1	6680349	6680349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:6680349C>T	ENST00000377648.4	+	3	1010	c.628C>T	c.(628-630)Cga>Tga	p.R210*	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	210					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	p.R210*(1)		endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGGTGTTCCGAGATGAGGA	0.507000													10	34					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46604915	46604915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:46604915C>T	ENST00000539173.1	+	9	2029	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.P532S|ADARB1_ENST00000389863.4_Missense_Mutation_p.P532S|ADARB1_ENST00000348831.4_Missense_Mutation_p.P492S	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	532	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)		GGGGACGATTCCAGTGCGCTC	0.527000													12	99					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604994	58604994	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:58604994C>T	ENST00000267485.7	-	2	1277	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	361						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCTGTGCAGCCTCTGTCCAAG	0.552000													21	152					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530766	93530766	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:93530766G>A	ENST00000251871.3	+	8	1496	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	403					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGCCACAAGAGAATGAGAC	0.368000													4	38					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32050069	32050069	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32050069G>A	ENST00000375244.3	-	9	3681	c.3480C>T	c.(3478-3480)ccC>ccT	p.P1160P	TNXB_ENST00000375247.2_Silent_p.P1160P			P22105	TENX_HUMAN	tenascin XB	1247	Fibronectin type-III 4.				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						TTCCCAGGTGGGGTGGAGTCC	0.562000													33	325					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442295	89442295	+	RNA	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89442295T>G	ENST00000492167.1	-	0	161																											GGTGGCTCTTTCCCCTGGAGA	0.522000													4	93					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	163410	163410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:163410C>T	ENST00000283426.6	+	11	2205	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	719					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGGAAACATCCCCAGAAGAA	0.607000													5	69					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52249761G>A	ENST00000595042.1	-	3	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_ENST00000304748.4_Missense_Mutation_p.R163C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	163					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000													7	51					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56043514C>T	ENST00000313033.2	+	1	486	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000													10	40					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:149489167G>A	ENST00000378016.2	+	0	5412							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)			CTTGCCCTCAGGACGGCTGCC	0.627000													4	80					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636249	20636249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:20636249C>T	ENST00000525748.1	+	6	1283	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	337					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTGACCATCCCAAAATACAG	0.413000													5	66					0	0	1	0	0
IGLV4-69	28784	broad.mit.edu	37	22	22385591	22385591	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22385591C>T	ENST00000390282.2	+	0	140				PRAMEF24P_ENST00000337471.4_RNA																							CTGACTCAATCGCCCTCTGCC	0.572000													5	29					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69105771	69105771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69105771C>T	ENST00000361055.4	-	14	1129	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	UBA3_ENST00000415609.2_Missense_Mutation_p.E318K|UBA3_ENST00000349511.4_Missense_Mutation_p.E345K|UBA3_ENST00000540295.1_Missense_Mutation_p.E182K|CTD-2013N24.2_ENST00000595925.1_RNA	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	359					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACCTTTCTTTCTGCTTCAAAT	0.279000													9	55					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36959481	36959481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:36959481G>A	ENST00000262865.4	+	12	1362	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	425					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CTCAAATATTGGCCCCTTCCC	0.562000													6	86					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390494	158390494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158390494G>A	ENST00000314902.2	-	1	162	c.163C>T	c.(163-165)Ctt>Ttt	p.L55F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGGATATGAAGGGCCCTGTCC	0.502000													4	12					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114438613	114438613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:114438613G>A	ENST00000369569.1	-	9	1838	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	AP4B1_ENST00000369567.1_Missense_Mutation_p.R352C|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.R520C|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	520					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGGAGGCGATAATAGAAG	0.438000													10	26					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717897	142717897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142717897G>A	ENST00000381779.4	-	2	1253	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.P343L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.P343L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	343	LRRNT.					integral to membrane		p.P343L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGGTGCCGGGCAAGGTGT	0.473000													12	34					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178684	62178684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62178684G>A	ENST00000217188.1	-	1	173	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	45							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTCGGCGGGGAGCGTGGGC	0.697000													3	10					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55273957	55273957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:55273957G>A	ENST00000256854.5	-	10	1483	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	NARS_ENST00000423481.2_Missense_Mutation_p.P94L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	343					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGTCAGGAAAGGACACTCAGC	0.468000													8	91					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397718	116397718	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:116397718G>A	ENST00000397752.3	+	8	2192	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	MET_ENST00000318493.6_Silent_p.P664P|MET_ENST00000436117.2_Silent_p.P664P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	664	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTATTTCGCCGAAATACGGTC	0.333000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				6	6					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228563820	228563820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228563820G>A	ENST00000570156.2	+	110	25843	c.25769G>A	c.(25768-25770)gGa>gAa	p.G8590E	OBSCN_ENST00000422127.1_Missense_Mutation_p.G7633E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G5267E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7633					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)				AGCAAGGCAGGAATGGGTCCC	0.642000													8	58					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902314	149902314	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:149902314G>A	ENST00000439741.2	-	15	1840	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	MTMR11_ENST00000369140.3_Silent_p.F458F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	530	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGGATTCTGGAATTGTAGTA	0.498000													22	128					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204128682	204128682	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204128682C>T	ENST00000367195.2	-	5	577	c.534G>A	c.(532-534)acG>acA	p.T178T	REN_ENST00000272190.8_Silent_p.T178T			P00797	RENI_HUMAN	renin	178					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CGGGCATCTCCGTGACCTCTC	0.577000													8	50					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512096	169512096	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169512096C>T	ENST00000367796.3	-	13	2448	c.2247G>A	c.(2245-2247)ttG>ttA	p.L749L	F5_ENST00000367797.3_Silent_p.L744L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	744	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTCCTGATTCAATGATGAGT	0.393000													5	31					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434730	42434730	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:42434730G>A	ENST00000397272.3	-	19	2422	c.2331C>T	c.(2329-2331)gcC>gcT	p.A777A	PLA2G4F_ENST00000382396.4_Silent_p.A775A	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	775	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTTACCTGGGGCCAGGTGTG	0.612000													5	50					0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270057	21270057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21270057C>T	ENST00000397967.4	-	2	677	c.171G>A	c.(169-171)atG>atA	p.M57I	RNASE1_ENST00000555698.1_Missense_Mutation_p.M17I|RNASE1_ENST00000340900.3_Missense_Mutation_p.M57I|RNASE1_ENST00000412779.2_Missense_Mutation_p.M57I|RNASE1_ENST00000397970.4_Missense_Mutation_p.M57I	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GGCGCCTCATCATTTGGTTAC	0.552000													12	50					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546041	138546041	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:138546041G>A	ENST00000440172.1	-	16	5139	c.5091C>T	c.(5089-5091)ctC>ctT	p.L1697L	KIAA1549_ENST00000422774.1_Silent_p.L1697L|KIAA1549_ENST00000242365.4_Silent_p.L1647L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1697						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGGGGCCACGAGGGCAAAGG	0.697000			O	BRAF	pilocytic astrocytoma								8	100					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86260899	86260899	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:86260899A>T	ENST00000263857.6	-	28	4424	c.4046T>A	c.(4045-4047)cTt>cAt	p.L1349H	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1349H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1349					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCCATCAGAAGTTTAAAGAA	0.463000													5	25					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133948005	133948005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133948005G>A	ENST00000220616.4	+	25	4977	c.4937G>A	c.(4936-4938)cGa>cAa	p.R1646Q	TG_ENST00000377869.1_Missense_Mutation_p.R1589Q|TG_ENST00000542445.1_Missense_Mutation_p.R80Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1646					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCAGAAACGAGATGCACTG	0.458000													4	45					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103090277	103090277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103090277C>T	ENST00000295269.4	+	1	516	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	20					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCTAGTGGCTCTTGAGTGT	0.483000													22	59					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920420	4920420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4920420C>T	ENST00000433855.1	+	1	2079	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	KCNA6_ENST00000280684.3_Missense_Mutation_p.L405F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	405						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGACGATTCGCTTTTTCCCAG	0.562000										HNSCC(72;0.22)			6	90					0	0	1	0	0
TPMT	7172	broad.mit.edu	37	6	18139944	18139944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:18139944G>A	ENST00000309983.4	-	5	456	c.371C>T	c.(370-372)tCt>tTt	p.S124F		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	124					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	GTTCCCCGAAGAACTCTGTAA	0.338000													5	18					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220333927	220333927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220333927G>A	ENST00000312358.7	+	13	3673	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1181					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGAGCAGGGTGAGCTGGAGCG	0.652000													5	29					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88127940	88127940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:88127940C>T	ENST00000507897.1	+	7	729	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	C6ORF165_ENST00000369562.4_Missense_Mutation_p.H216Y			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	216										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGCTGTTCTCCATGTAGCAAT	0.448000													4	33					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704239	47704239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:47704239G>A	ENST00000397708.1	-	2	1216	c.962C>T	c.(961-963)cCt>cTt	p.P321L	MCM3AP_ENST00000291688.1_Missense_Mutation_p.P321L			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	321					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTGTCTGGAGGATGATCGCC	0.532000													9	128					0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104121127	104121127	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:104121127C>T	ENST00000389744.4	+	2	495	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	KLC1_ENST00000380038.3_Silent_p.L76L|KLC1_ENST00000553286.1_Silent_p.L76L|KLC1_ENST00000348520.6_Silent_p.L76L|KLC1_ENST00000452929.2_Silent_p.L76L|KLC1_ENST00000445352.4_Silent_p.L76L|RP11-73M18.2_ENST00000472726.2_Silent_p.L248L|KLC1_ENST00000555836.1_Silent_p.L76L|KLC1_ENST00000334553.6_Silent_p.L76L|KLC1_ENST00000557575.1_Silent_p.L76L|KLC1_ENST00000557450.1_Silent_p.L76L|KLC1_ENST00000246489.7_Silent_p.L76L|KLC1_ENST00000554280.1_Silent_p.L76L|KLC1_ENST00000347839.6_Silent_p.L76L			Q07866	KLC1_HUMAN	kinesin light chain 1	76					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CCGGAAGTCACTGGAGATGTT	0.418000													4	38					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725381	10725381	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:10725381G>A	ENST00000377022.3	-	5	581	c.264C>T	c.(262-264)atC>atT	p.I88I	CASZ1_ENST00000344008.5_Silent_p.I88I|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCACTTCTCGATCACTGCCC	0.701000													8	102					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418631	13418631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13418631C>T	ENST00000360228.5	-	15	1950	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D652N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	652					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAAAAGTATCGAAGTTGGTG	0.557000													16	94					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3021832	3021832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3021832G>A	ENST00000381127.1	+	9	1353	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R	ARSF_ENST00000359361.2_Missense_Mutation_p.G378R|ARSF_ENST00000537104.1_Missense_Mutation_p.G378R	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	378						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGGAAGGTGGAATCCGCGT	0.423000													9	11					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452498	203452498	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:203452498C>T	ENST00000343110.2	+	2	313	c.186C>T	c.(184-186)ctC>ctT	p.L62L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	62					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTCCCCTCCCTCCAGGCC	0.642000													6	51					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690903	38690903	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38690903C>T	ENST00000449981.2	+	2	427	c.318C>T	c.(316-318)tcC>tcT	p.S106S	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCGTCTTCCCGGAGGTCCT	0.493000													4	33					0	0	1	0	0
CYP4F22	126410	broad.mit.edu	37	19	15636217	15636217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:15636217G>A	ENST00000269703.2	+	3	269	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V24M	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	24						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CATATACGCGGTGTCCACCCT	0.642000													8	40					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961236	1961236	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:1961236C>T	ENST00000217305.2	-	4	723	c.498G>A	c.(496-498)gaG>gaA	p.E166E	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.E166E|PDYN_ENST00000539905.1_Silent_p.E166E	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	166					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTGGGGTCCTCCTCAGCGA	0.597000													6	68					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516080	102516080	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102516080C>T	ENST00000360184.4	+	76	13709	c.13545C>T	c.(13543-13545)ttC>ttT	p.F4515F	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4515					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTGGCCTGTTCGTGCCTGAGG	0.622000													7	34					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112437071	112437071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:112437071C>T	ENST00000230538.7	-	36	5504	c.5107G>A	c.(5107-5109)Gga>Aga	p.G1703R	LAMA4_ENST00000389463.4_Missense_Mutation_p.G1696R|LAMA4_ENST00000522006.1_Missense_Mutation_p.G1696R|LAMA4_ENST00000424408.2_Missense_Mutation_p.G1696R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1703	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTACCTGTCCATTTTTCATG	0.398000													3	18					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125570932	125570932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125570932G>A	ENST00000316519.6	+	4	621	c.415G>A	c.(415-417)Gct>Act	p.A139T	AACS_ENST00000261686.6_Missense_Mutation_p.A139T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	139					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAAGAAGTGGCTTTGTTTGC	0.463000													9	117					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4260871	4260871	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4260871G>A	ENST00000404826.2	+	40	5841	c.5701_splice	c.e40-1	p.G1901_splice	SDK1_ENST00000389531.3_Splice_Site_p.G1881_splice	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1901					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TATCCCGCAGGATCCCCGGGC	0.617000													5	28					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230272017	230272017	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:230272017A>C	ENST00000341772.4	-	10	1788	c.1654T>G	c.(1654-1656)Tgt>Ggt	p.C552G		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	552	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCGTTCAGACAGCTGACGTTA	0.527000													6	24					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51821282	51821282	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51821282G>A	ENST00000456967.1	-	0	1352					NR_038275.1																						CCACTGAACAGGCCACCTCCA	0.547000													20	134					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61943027	61943027	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61943027G>A	ENST00000422202.1	+	12	1679	c.1611G>A	c.(1609-1611)agG>agA	p.R537R	COL20A1_ENST00000358894.6_Silent_p.R530R|COL20A1_ENST00000435874.1_Silent_p.R537R|COL20A1_ENST00000326996.6_Silent_p.R530R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	530	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AACCTGGCAGGGACTATGAGG	0.706000													4	36					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17743075	17743075	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17743075G>A	ENST00000375436.4	-	8	1114	c.927C>T	c.(925-927)ccC>ccT	p.P309P	RCC2_ENST00000375433.3_Silent_p.P309P	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	309					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCACTCGCCGGGGAACTAGTT	0.557000													5	66					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761669	131761669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:131761669C>T	ENST00000368648.3	-	2	325	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	EBF3_ENST00000355311.5_Missense_Mutation_p.E85K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGGTCCTTTCAATCTCCACC	0.557000													13	147					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39984583	39984583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:39984583C>T	ENST00000373257.3	+	14	1803	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	571					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCAGACAGCCCTGTGATCCTG	0.587000													5	68					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202411596	202411596	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202411596G>T	ENST00000406302.3	+	12	1716	c.1563G>T	c.(1561-1563)gtG>gtT	p.V521V	PPP1R12B_ENST00000336894.4_Silent_p.V521V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	521					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTAATCTAGTGAGGAGTGGCT	0.428000													5	52					8.12818e-05	8.23309e-05	1	1	0
UROC1	131669	broad.mit.edu	37	3	126226858	126226858	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126226858G>A	ENST00000290868.2	-	5	545	c.492C>T	c.(490-492)ctC>ctT	p.L164L	UROC1_ENST00000383579.3_Silent_p.L164L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	164					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCTGGGAAAGAGGCCAAGTG	0.597000													5	72					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375809	175375809	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175375809G>A	ENST00000367674.1	-	3	750	c.42C>T	c.(40-42)ctC>ctT	p.L14L	TNR_ENST00000263525.2_Silent_p.L14L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	14					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGATGCCAATGAGCATGTTCT	0.552000													5	111					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8181669	8181669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8181669C>T	ENST00000600128.1	-	29	4015	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	FBN3_ENST00000601739.1_Missense_Mutation_p.E1201K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1201K			Q75N90	FBN3_HUMAN	fibrillin 3	1201	EGF-like 17.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTTCTCTTCACACTCGTCC	0.612000													10	58					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74709642	74709642	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:74709642C>T	ENST00000308807.7	-	8	1522	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	353	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTGTGTTTTCCTCAACTCAA	0.423000													4	51					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918790	11918790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11918790G>A	ENST00000376468.3	-	1	198	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	34					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GTCCGAGGCTGAACCGGGGCT	0.627000													7	145					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293788	71293788	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71293788G>A	ENST00000398530.1	-	1	133	c.96C>T	c.(94-96)ggC>ggT	p.G32G	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	32						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGGAGCCACAGCCCC	0.657000													8	67					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878414	151878414	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151878414C>T	ENST00000355193.2	-	36	6749	c.6531G>A	c.(6529-6531)caG>caA	p.Q2177Q	KMT2C_ENST00000262189.6_Silent_p.Q2177Q					lysine (K)-specific methyltransferase 2C																		GGGTTTGGGGCTGCTGACTAT	0.473000													9	58					0	0	1	0	0
CABYR	26256	broad.mit.edu	37	18	21735683	21735683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:21735683G>A	ENST00000399496.3	+	4	383	c.218G>A	c.(217-219)gGa>gAa	p.G73E	CABYR_ENST00000327201.6_5'UTR|CABYR_ENST00000399499.1_Missense_Mutation_p.G73E|CABYR_ENST00000581397.1_Missense_Mutation_p.G73E|CABYR_ENST00000399481.2_5'UTR|CABYR_ENST00000415309.2_Missense_Mutation_p.G73E	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	73					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					TGGTCAGAAGGAACGACACCA	0.323000													5	49					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27437927	27437927	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27437927G>A	ENST00000326799.3	-	2	224	c.76C>T	c.(76-78)Cca>Tca	p.P26S	YME1L1_ENST00000477432.1_Missense_Mutation_p.P26S|YME1L1_ENST00000376016.3_Missense_Mutation_p.P26S|YME1L1_ENST00000375972.3_Missense_Mutation_p.P26S	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	26					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GTGTTTTTTGGTGTATGGAAG	0.378000													51	164					0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691854	8691854	+	Missense_Mutation	SNP	G	G	A	rs137962363		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8691854G>A	ENST00000299663.3	-	3	344	c.179C>T	c.(178-180)cCt>cTt	p.P60L	CLEC4E_ENST00000446457.2_Missense_Mutation_p.P60L|CLEC4E_ENST00000545274.1_Missense_Mutation_p.P60L	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	60						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAATTCTCAGGTAGCTGAAA	0.358000													11	123					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948525	204948525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:204948525C>T	ENST00000367172.4	+	19	2342	c.2014C>T	c.(2014-2016)Cct>Tct	p.P672S	NFASC_ENST00000367170.4_Missense_Mutation_p.P672S|NFASC_ENST00000339876.6_Missense_Mutation_p.P672S|NFASC_ENST00000367169.4_Missense_Mutation_p.P672S|NFASC_ENST00000338515.6_Missense_Mutation_p.P672S|NFASC_ENST00000404076.1_Missense_Mutation_p.P651S|NFASC_ENST00000513543.1_Missense_Mutation_p.P668S|NFASC_ENST00000401399.1_Missense_Mutation_p.P672S|NFASC_ENST00000367171.4_Missense_Mutation_p.P657S|NFASC_ENST00000360049.4_Missense_Mutation_p.P668S|NFASC_ENST00000404907.1_Missense_Mutation_p.P668S|NFASC_ENST00000539706.1_Missense_Mutation_p.P668S|NFASC_ENST00000338586.6_Missense_Mutation_p.P672S			O94856	NFASC_HUMAN	neurofascin	672	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGTTCCAACCTGGGGTCTG	0.527000													5	87					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341563	55341563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55341563G>A	ENST00000391728.4	+	9	1201	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E373K|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E373K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E390K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E295K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.522000													22	234					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775087	231775087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:231775087C>T	ENST00000392040.1	-	2	783	c.591G>A	c.(589-591)atG>atA	p.M197I	GPR55_ENST00000392039.2_Missense_Mutation_p.M197I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	197					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGCAGAAGCCCATGATGCCCA	0.567000													9	96					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120353731	120353731	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:120353731G>A	ENST00000239032.2	-	2	1164	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	PRLHR_ENST00000369169.1_Silent_p.F342F	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	342					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCTCCTCGCGGAAGCTGTCGT	0.607000													6	45					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32834595	32834595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:32834595G>A	ENST00000357033.4	-	6	726	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	DMD_ENST00000288447.4_Missense_Mutation_p.H166Y|DMD_ENST00000378677.2_Missense_Mutation_p.H170Y	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	174	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTATGACTATGGATGAGAGCA	0.408000													5	23					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074197	20074197	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:20074197C>T	ENST00000351989.3	+	2	1140	c.711C>T	c.(709-711)ttC>ttT	p.F237F	DGCR8_ENST00000407755.1_Silent_p.F237F|DGCR8_ENST00000383024.2_Silent_p.F237F	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	237	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCTTGAATTTCCCCTACGAGG	0.463000													9	146					0	0	1	0	0
SPANXD	64648	broad.mit.edu	37	X	140785748	140785748	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:140785748C>T	ENST00000370515.3	-	2	501	c.168G>A	c.(166-168)agG>agA	p.R56R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TAAAGTTCCTCCTGTAGCGAA	0.488000													36	132					0	0	1	0	0
BBS5	129880	broad.mit.edu	37	2	170356074	170356074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170356074C>T	ENST00000295240.3	+	9	1136	c.760C>T	c.(760-762)Cac>Tac	p.H254Y	BBS5_ENST00000554017.1_Missense_Mutation_p.H254Y|BBS5_ENST00000392663.2_Missense_Mutation_p.H233Y|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.H254Y	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAATTCACTTCACAAAGTCTA	0.323000									Bardet-Biedl syndrome				4	59					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540475	55540475	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:55540475T>A	ENST00000220676.1	+	4	4181	c.4033T>A	c.(4033-4035)Tta>Ata	p.L1345I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1345					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CATTGACTTTTTAAACTCCAA	0.383000													5	41					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110765	72110765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:72110765G>A	ENST00000540303.2	+	5	864	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	HPR_ENST00000356967.5_Missense_Mutation_p.E278K|HPR_ENST00000228226.8_Missense_Mutation_p.E315K|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	278	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CATACTGAACGAACACACCTT	0.552000													6	42					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919002	12919002	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12919002G>A	ENST00000240189.2	+	2	225	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	46										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCAGCAGGAGACACTTCC	0.592000													8	132					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843134	4843134	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4843134C>T	ENST00000322110.5	+	1	584	c.519C>T	c.(517-519)gtC>gtT	p.V173V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTGCCAGTCATGCTCTTTG	0.443000													6	88					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591016	87591016	+	Silent	SNP	C	C	T	rs142347723		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:87591016C>T	ENST00000320005.5	-	17	2051	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	668					signal transduction|visual perception	integral to membrane	cGMP binding	p.P668P(1)		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						TCTCTTCTTTCGGTGGGAAGA	0.473000													11	46					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990955	47990955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47990955C>T	ENST00000371741.4	-	2	1308	c.1142G>A	c.(1141-1143)gGa>gAa	p.G381E		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	381					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)			GTAGATGTCTCCATACCCAAC	0.512000													6	44					0	0	1	0	0
C11orf74	119710	broad.mit.edu	37	11	36669621	36669621	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:36669621C>T	ENST00000446510.2	+	5	513	c.414C>T	c.(412-414)tcC>tcT	p.S138S	C11orf74_ENST00000334307.5_Silent_p.S138S|C11orf74_ENST00000347206.4_Silent_p.S64S|C11orf74_ENST00000534635.1_Silent_p.S64S			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	138										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GCATTCCTTCCTGTATCCCTT	0.478000													3	24					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581575	140581575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140581575G>A	ENST00000354757.3	+	1	2228	c.2228G>A	c.(2227-2229)gGg>gAg	p.G743E	PCDHB11_ENST00000536699.1_Missense_Mutation_p.G378E	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		743					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGGCACCGGGACCCTTTCC	0.602000													21	98					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125148990	125148990	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:125148990C>T	ENST00000362012.2	+	9	1280	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000540753.1_Intron|PTGS1_ENST00000373698.5_Silent_p.F316F	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	425					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGATGCCTTCTCTCGCCAGA	0.582000													5	44					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671056	49671056	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:49671056C>T	ENST00000561648.1	-	4	2060	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	ZNF423_ENST00000562871.1_Silent_p.E609E|ZNF423_ENST00000563137.2_Silent_p.E609E|ZNF423_ENST00000562520.1_Silent_p.E609E|ZNF423_ENST00000262383.2_Silent_p.E669E|ZNF423_ENST00000535559.1_Silent_p.E552E|ZNF423_ENST00000567169.1_Silent_p.E552E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	669					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGTCAAAGTCCTCTTTGCACT	0.557000													4	45					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902994	60902994	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60902994G>A	ENST00000252999.3	-	36	4791	c.4725C>T	c.(4723-4725)cgC>cgT	p.R1575R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1575	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCACAGGGGCGGCAGCGGG	0.687000													6	78					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565236	58565236	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58565236G>A	ENST00000282326.1	+	6	1291	c.1044G>A	c.(1042-1044)agG>agA	p.R348R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	348					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCACCGAGGAAGAAAGCCC	0.667000													4	30					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:56757090G>A	ENST00000326855.2	+	1	744	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423000													6	20					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627890	26627890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26627890C>T	ENST00000380573.3	-	3	2200	c.1177G>A	c.(1177-1179)Ggc>Agc	p.G393S	ADRA1A_ENST00000380586.1_Missense_Mutation_p.G393S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.G393S|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.G393S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.G393S|ADRA1A_ENST00000519229.1_Missense_Mutation_p.G393S			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	393					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCACAAACGCCATCCGTCTTG	0.562000													8	83					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2996156	2996156	+	Silent	SNP	G	G	A	rs147499202	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2996156G>A	ENST00000331459.1	-	1	134	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	45					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGCCAGGATGATGAGCACAT	0.547000													6	43					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39111957	39111957	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39111957A>T	ENST00000216044.5	+	3	583	c.350A>T	c.(349-351)tAc>tTc	p.Y117F		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	117					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GAGGCCTCCTACGCCACAGTG	0.597000													14	86					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798418	53798418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:53798418G>A	ENST00000575734.1	-	4	822	c.14C>T	c.(13-15)cCc>cTc	p.P5L	TMEM100_ENST00000424486.2_Missense_Mutation_p.P5L	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	5						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CTCCTTGATGGGCTCTTCAGT	0.502000													4	29					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30412626	30412626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:30412626C>T	ENST00000333027.3	+	15	1941	c.1613C>T	c.(1612-1614)tCa>tTa	p.S538L	MTMR3_ENST00000351488.3_Missense_Mutation_p.S538L|MTMR3_ENST00000323630.5_Missense_Mutation_p.S402L|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S538L|MTMR3_ENST00000401950.2_Missense_Mutation_p.S538L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	538	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCCGTGTGGTCACTTCTTCGG	0.498000													10	121					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27995239	27995239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27995239C>T	ENST00000256398.8	+	10	1308	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ELP3_ENST00000524103.1_Missense_Mutation_p.R239C|ELP3_ENST00000521015.1_Missense_Mutation_p.R297C|ELP3_ENST00000542181.1_Missense_Mutation_p.R182C|ELP3_ENST00000537665.1_Missense_Mutation_p.R192C|ELP3_ENST00000380353.4_Missense_Mutation_p.R219C	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	311					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CCCTGCTTTTCGTCCCGATGG	0.453000													5	37					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187717	58187717	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58187717C>T	ENST00000318203.5	+	3	901	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	68	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTATAGGATCTTTCACTCAT	0.398000													4	29					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691199	121691199	+	Silent	SNP	G	G	A	rs149343557		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:121691199G>A	ENST00000324774.5	-	10	1812	c.984C>T	c.(982-984)atC>atT	p.I328I	CAMKK2_ENST00000402834.4_Silent_p.I328I|CAMKK2_ENST00000446440.2_Silent_p.I328I|CAMKK2_ENST00000404169.3_Silent_p.I328I|CAMKK2_ENST00000347034.2_Silent_p.I328I|CAMKK2_ENST00000392473.2_Silent_p.I328I|CAMKK2_ENST00000392474.2_Silent_p.I328I|CAMKK2_ENST00000412367.2_Silent_p.I328I|CAMKK2_ENST00000538733.1_Silent_p.I328I|CAMKK2_ENST00000337174.3_Silent_p.I328I|CAMKK2_ENST00000545538.1_Silent_p.I115I|CAMKK2_ENST00000535524.1_5'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	328	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAAGTCAGCGATCTTGATGT	0.567000													37	457					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160106361	160106361	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160106361G>A	ENST00000361216.3	+	19	2654	c.2563_splice	c.e19-1	p.G855_splice	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Splice_Site_p.G855_splice	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	855					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TACCCACAGGGATGATCCAGG	0.607000													4	61					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394782	154394782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:154394782G>A	ENST00000435029.4	+	1	1523	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	455					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAGACTTTGGAAGACCAGGA	0.443000													9	57					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140864861	140864861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140864861G>A	ENST00000306593.1	+	1	121	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGTCACAGGAAGGGACTTT	0.547000													12	58					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295955	62295955	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62295955C>T	ENST00000378024.4	-	5	6208	c.5934G>A	c.(5932-5934)aaG>aaA	p.K1978K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1978					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTCAGGCATCTTAAACTTGG	0.502000													18	205					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977127	107977127	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107977127C>T	ENST00000372129.2	-	1	2524	c.2448G>A	c.(2446-2448)cgG>cgA	p.R816R		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	816						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAGGTGAGCTCCGAAAAGGGT	0.502000													10	126					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823255	38823255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38823255C>T	ENST00000303592.3	-	2	1141	c.883G>A	c.(883-885)Gag>Aag	p.E295K	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	295					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCGTGGCCTCCACCATGCCC	0.627000													8	36					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788275	21788275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:21788275C>T	ENST00000206660.6	+	11	1406	c.1406C>T	c.(1405-1407)cCt>cTt	p.P469L	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P442L|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P469L|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.P111L|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P442L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	469					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCCCAACCTCCTGACAGGCAA	0.468000													4	23					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799454	212799454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:212799454G>A	ENST00000294829.3	+	1	1666	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	412										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGAAGGGAGCGAACCCAGGCC	0.622000													17	37					0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241958551	241958551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:241958551G>A	ENST00000366552.2	+	25	3217	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	WDR64_ENST00000437684.2_Missense_Mutation_p.E837K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1004										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGAAAACAGAGAGGCAGGGAT	0.433000													7	43					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774931	234774931	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:234774931G>A	ENST00000438684.1	-	0	1183					NR_024322.1																						CTCAGTAAAGGACATTTTTCC	0.438000													7	46					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511407	61511407	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61511407G>A	ENST00000266070.4	-	16	6226	c.5901C>T	c.(5899-5901)ttC>ttT	p.F1967F	DIDO1_ENST00000395343.1_Silent_p.F1967F	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1967	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTGGTCTTCGAACTGCTGAG	0.572000													36	248					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135098992	135098992	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:135098992G>A	ENST00000368563.2	-	12	2219	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	TUBGCP2_ENST00000543663.1_Silent_p.I649I|TUBGCP2_ENST00000368562.1_Silent_p.I214I|TUBGCP2_ENST00000417178.2_Silent_p.I491I|TUBGCP2_ENST00000252936.3_Silent_p.I621I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	621					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCCACTTGACGATGTAGTCGA	0.627000													6	46					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448807	60448807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60448807G>A	ENST00000360469.5	+	7	989	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	CDH4_ENST00000543233.1_Missense_Mutation_p.A227T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	301	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCGTCACGGCCAACGATGC	0.632000													11	50					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76063328	76063328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:76063328C>T	ENST00000393004.2	-	4	777	c.556G>A	c.(556-558)Gag>Aag	p.E186K	FILIP1_ENST00000370020.1_Missense_Mutation_p.E87K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E186K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	186								p.E186K(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTATGCTTCTCGTTCTCTAAC	0.517000													11	88					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201356	166201356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:166201356G>A	ENST00000357398.3	+	16	3144	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	SCN2A_ENST00000375437.2_Missense_Mutation_p.E952K|SCN2A_ENST00000283256.6_Missense_Mutation_p.E952K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E952K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	952					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGACTGTATGGAGGTCGCTGG	0.468000													12	67					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612841	196612841	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:196612841C>T	ENST00000323460.5	+	2	1038	c.789C>T	c.(787-789)gcC>gcT	p.A263A	SENP5_ENST00000445299.2_Silent_p.A263A|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	263					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TAAGAAAAGCCCAGCGAAGCT	0.478000													7	45					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363568	40363568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40363568C>T	ENST00000397332.2	-	3	785	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.V191M	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		TCTGCTCGCACCGTGATGGTG	0.502000													10	88					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779589	36779589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:36779589C>T	ENST00000416516.2	-	2	1052	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	188						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATTTGCCTCGGGAGACCTC	0.582000													6	72					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74319525	74319525	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:74319525G>A	ENST00000377044.4	-	18	3719	c.3180C>T	c.(3178-3180)ctC>ctT	p.L1060L	TMEM2_ENST00000377066.5_Silent_p.L997L|TMEM2_ENST00000396272.3_Silent_p.L53L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1060						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGAAGTTGACGAGGTATAGAA	0.428000													6	48					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107415744	107415744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:107415744C>T	ENST00000334504.7	-	32	3390	c.3157G>A	c.(3157-3159)Ggg>Agg	p.G1053R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G1053R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1053R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1054R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1054R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1054	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGGCGACCCTCTGATACCT	0.488000									Alport syndrome with Diffuse Leiomyomatosis				13	62					0	0	1	0	0
NPY5R	4889	broad.mit.edu	37	4	164272066	164272066	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164272066C>A	ENST00000515560.1	+	4	2163	c.641C>A	c.(640-642)tCt>tAt	p.S214Y	NPY5R_ENST00000338566.3_Missense_Mutation_p.S214Y|NPY5R_ENST00000506953.1_Missense_Mutation_p.S214Y			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	214					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTTACTATCTCTTTATTGCTA	0.383000													8	97					0.00307968	0.0031084	1	1	0
BCO2	83875	broad.mit.edu	37	11	112070449	112070449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:112070449C>T	ENST00000357685.5	+	6	899	c.764C>T	c.(763-765)cCt>cTt	p.P255L	SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000393032.2_Missense_Mutation_p.P221L|BCO2_ENST00000531169.1_Missense_Mutation_p.P221L|BCO2_ENST00000526088.1_Missense_Mutation_p.P221L|BCO2_ENST00000361053.4_Missense_Mutation_p.P182L|BCO2_ENST00000532593.1_Missense_Mutation_p.P150L|BCO2_ENST00000438022.1_Missense_Mutation_p.P221L			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	255					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						ATTCGGGTTCCTCCAGAGAAG	0.403000													7	48					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146672876	146672876	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:146672876T>C	ENST00000254090.4	-	7	1429	c.1041A>G	c.(1039-1041)aaA>aaG	p.K347K	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Intron|FMO5_ENST00000441068.2_Silent_p.K347K	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	347						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATATCTTGTTTTTGACCACTT	0.453000													8	41					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2515531	2515531	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:2515531C>T	ENST00000511600.1	+	8	2073	c.558C>T	c.(556-558)caC>caT	p.H186H	RNF4_ENST00000314289.8_Silent_p.H186H|RNF4_ENST00000511859.1_3'UTR|RNF4_ENST00000506706.1_Silent_p.H186H|RNF4_ENST00000541204.1_Silent_p.H186H			P78317	RNF4_HUMAN	ring finger protein 4	186					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.H220Q(1)		endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AACGGTACCACCCCATTTATA	0.488000													4	90					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97987229	97987229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:97987229G>A	ENST00000224337.5	-	5	439	c.298C>T	c.(298-300)Cca>Tca	p.P100S	BLNK_ENST00000427367.2_Missense_Mutation_p.P100S|BLNK_ENST00000413476.2_Missense_Mutation_p.P100S|BLNK_ENST00000371176.2_Missense_Mutation_p.P100S	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	100	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TGCTCTACTGGAGGCGGCTCG	0.602000													11	123					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38953468	38953468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:38953468C>T	ENST00000306658.7	-	4	821	c.756G>A	c.(754-756)ggG>ggA	p.G252G		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	252	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CGAGGTCTACCCCCGGGGCCG	0.592000													8	63					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529462	5529462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5529462C>T	ENST00000311659.4	-	2	1474	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	443										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGACAAGATCAGGCAAGTTT	0.537000													6	50					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525805	4525805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4525805G>A	ENST00000381848.3	-	6	640	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	187						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						ATCCTCCACCGAACCCACTTC	0.647000													6	27					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615806	140615806	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140615806C>T	ENST00000526308.1	+	0	1869					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACTCGCCCTTCGTGCTGTACC	0.716000													5	49					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846133	128846133	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128846133G>C	ENST00000249373.3	+	5	1343	c.1063G>C	c.(1063-1065)Ggc>Cgc	p.G355R		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	355					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCCTCTCTCGGGCAAGACCTC	0.577000			Mis		skin basal cell								5	99					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263533	248263533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248263533C>T	ENST00000366478.2	+	3	1193	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	OR2L13_ENST00000358120.2_Missense_Mutation_p.P286S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CATGCTCAATCCCATTATCTA	0.488000													5	38					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156279062	156279062	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:156279062G>A	ENST00000295688.3	-	14	1846	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	CCT3_ENST00000368259.2_Silent_p.I484I|CCT3_ENST00000368261.3_Silent_p.I477I|CCT3_ENST00000472765.2_Silent_p.I477I	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	522					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GGCCTGAAACGATGTCATCAA	0.502000													8	98					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129714239	129714239	+	Missense_Mutation	SNP	C	C	T	rs145126760		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:129714239C>T	ENST00000421865.2	+	37	5333	c.5284C>T	c.(5284-5286)Cgg>Tgg	p.R1762W		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1762	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAGAGTCCCGGGGGGAAAA	0.468000													4	9					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682121	100682121	+	Missense_Mutation	SNP	C	C	T	rs141900729		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100682121C>T	ENST00000306151.4	+	3	7488	c.7424C>T	c.(7423-7425)aCc>aTc	p.T2475I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2475	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGGCTGGCACCCTTTCCACA	0.522000													31	182					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150386655	150386655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:150386655C>T	ENST00000367339.1	-	3	535	c.507G>A	c.(505-507)atG>atA	p.M169I	ULBP3_ENST00000438272.2_Missense_Mutation_p.M169I			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	169	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACTTCTCTTTCATCCGCCTGG	0.517000													20	98					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954855	30954855	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30954855C>T	ENST00000376296.3	+	2	1144	c.903C>T	c.(901-903)acC>acT	p.T301T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	301	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACAGCCACCAACTCTGAGT	0.592000													11	134					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688313	60688313	+	Silent	SNP	G	G	A	rs115990154	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:60688313G>A	ENST00000335712.6	-	4	1961	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	BCL11A_ENST00000356842.4_Silent_p.A578A|BCL11A_ENST00000358510.4_Silent_p.A544A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.A544A|BCL11A_ENST00000537768.1_Silent_p.A247A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	578					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTGGCCCTCGGCCTCGGCCA	0.662000			T	IGH@	B-CLL								6	248					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595196	82595196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:82595196G>A	ENST00000423517.2	-	4	4245	c.3908C>T	c.(3907-3909)cCt>cTt	p.P1303L	PCLO_ENST00000333891.8_Missense_Mutation_p.P1303L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1242					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAACTCTGAGGTGTGCCAGA	0.448000													9	35					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519866	53519866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:53519866C>T	ENST00000370905.3	-	2	345	c.205G>A	c.(205-207)Gag>Aag	p.E69K	KLHL31_ENST00000407079.1_Missense_Mutation_p.E69K	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AGGAAGTTCTCCTGCCGCATT	0.428000													5	45					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904114	5904114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:5904114G>A	ENST00000378961.4	+	4	1528	c.1324G>A	c.(1324-1326)Ggt>Agt	p.G442S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	442						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAGGTTCTTGGGTGAAGGACA	0.547000													4	87					0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103343331	103343331	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103343331G>A	ENST00000258436.5	-	4	443	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	134					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGACAAACAGAAACACATTG	0.488000													6	45					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25789932	25789932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:25789932C>T	ENST00000399878.3	-	13	2253	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E558K|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E676K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	711						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGCTGCTTCGGGATTCTTG	0.463000													6	54					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19448000	19448000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19448000C>T	ENST00000392313.5	+	4	428	c.382C>T	c.(382-384)Ccg>Tcg	p.P128S	MAU2_ENST00000262815.8_Missense_Mutation_p.P128S	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	128					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCAGCAAAGCCGCTGCTGCG	0.527000													5	27					0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110018316	110018316	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:110018316C>T	ENST00000369872.3	+	3	459	c.243C>T	c.(241-243)ggC>ggT	p.G81G	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Silent_p.G81G	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	81	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGCATTTGGCTATCCCTTCA	0.537000													26	364					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184298341	184298341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:184298341C>T	ENST00000330394.2	+	12	2776	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	775	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)			TGCAAAGTCTCAGACTTTGGC	0.592000													9	75					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30886664	30886664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30886664C>T	ENST00000321897.5	+	10	1678	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	VARS2_ENST00000542001.1_Missense_Mutation_p.A209V|VARS2_ENST00000541562.1_Missense_Mutation_p.A379V|VARS2_ENST00000416670.2_Missense_Mutation_p.A349V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	349					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGGCTGTGGCCGTTCATCCA	0.527000													6	48					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21166519	21166519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:21166519C>T	ENST00000382778.4	+	8	1519	c.401C>T	c.(400-402)cCt>cTt	p.P134L	IFT88_ENST00000319980.6_Missense_Mutation_p.P134L|IFT88_ENST00000537103.1_Missense_Mutation_p.P106L|IFT88_ENST00000351808.5_Missense_Mutation_p.P125L			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	134					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)		CCTGCTTCCCCTTTGGAAGCC	0.358000													6	16					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135712019	135712019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135712019C>T	ENST00000264157.5	+	9	2024	c.1994C>T	c.(1993-1995)cCc>cTc	p.P665L	CCNT2_ENST00000295238.6_Intron|CCNT2_ENST00000537343.1_Intron	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	665	Poly-Pro.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TTTAACCATCCCTTACCCCCT	0.478000													6	49					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11412923	11412923	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11412923G>A	ENST00000259089.4	+	8	1294	c.702G>A	c.(700-702)tgG>tgA	p.W234*	BLK_ENST00000529894.1_Nonsense_Mutation_p.W163*	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	234					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		AGGATGAATGGGAGATCCCCC	0.597000													4	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994157	8994157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8994157C>T	ENST00000397910.4	-	65	41731	c.41528G>A	c.(41527-41529)aGg>aAg	p.R13843K	MUC16_ENST00000380951.5_Missense_Mutation_p.R484K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13846	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGTCAGCCTGCAGCCAGA	0.527000													6	29					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677182	37677182	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37677182G>A	ENST00000532828.2	-	5	1508	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Silent_p.F7F|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.F364F	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTCCGGATGAAGGCCAGTC	0.413000													5	51					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134121243	134121243	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:134121243C>T	ENST00000452510.2	+	11	1589	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	DDX46_ENST00000354283.4_Silent_p.V477V|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	477	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTAGAGTGGTCTGTGTTTACG	0.368000													4	57					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10927562	10927562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10927562G>A	ENST00000283141.6	+	17	1698	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	468						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGACCAATCTGAGCCACCTGT	0.443000													8	25					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991293	144991293	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144991293G>A	ENST00000322810.4	-	32	13276	c.13107C>T	c.(13105-13107)ttC>ttT	p.F4369F	PLEC_ENST00000527096.1_Silent_p.F4255F|PLEC_ENST00000398774.2_Silent_p.F4200F|PLEC_ENST00000354589.3_Silent_p.F4232F|PLEC_ENST00000354958.2_Silent_p.F4210F|PLEC_ENST00000356346.3_Silent_p.F4218F|PLEC_ENST00000357649.2_Silent_p.F4236F|PLEC_ENST00000345136.3_Silent_p.F4232F|PLEC_ENST00000436759.2_Silent_p.F4259F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4369	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCATGTCGGCGAACTCGGTGA	0.667000													11	54					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578896	9578896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9578896C>T	ENST00000301480.4	-	10	940	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAATACATTCAGACGTGTTG	0.388000													5	23					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76991953	76991953	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76991953G>T	ENST00000257626.7	-	13	974	c.896C>A	c.(895-897)cCg>cAg	p.P299Q		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		GGCACACTTCGGGCTGTAACA	0.313000													3	9					1	1	1	1	0
DEGS1	8560	broad.mit.edu	37	1	224377347	224377347	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:224377347G>C	ENST00000323699.4	+	2	317	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L	DEGS1_ENST00000391877.3_Missense_Mutation_p.V51L|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	51					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AATTATGATGGTTCTCACCCA	0.368000													13	77					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177809	7177809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7177809C>T	ENST00000406697.1	+	15	2549	c.1921C>T	c.(1921-1923)Ccc>Tcc	p.P641S	C1S_ENST00000360817.5_Missense_Mutation_p.P641S|C1S_ENST00000328916.3_Missense_Mutation_p.P641S|C1S_ENST00000402681.3_Missense_Mutation_p.P474S			P09871	C1S_HUMAN	complement component 1, s subcomponent	641	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGTACAGGATCCCAATGACAA	0.532000													20	113					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791010	51791010	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51791010G>A	ENST00000251076.5	-	18	4698	c.4411C>T	c.(4411-4413)Ctg>Ttg	p.L1471L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Silent_p.L1471L|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1471						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTGAAACAGCTCTGAATAC	0.358000													6	84					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777017	100777017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100777017G>A	ENST00000223095.4	+	5	899	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	SERPINE1_ENST00000445463.2_Missense_Mutation_p.E233K	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	248					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CGACATCCTGGAACTGCCCTA	0.552000													5	60					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776470	53776470	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53776470T>C	ENST00000426431.2	+	3	778	c.718T>C	c.(718-720)Tca>Cca	p.S240P	SP1_ENST00000327443.4_Missense_Mutation_p.S247P	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	247	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TAATGTACTCTCAGGACAGAC	0.507000													10	75					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846565	228846565	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:228846565G>A	ENST00000392056.3	-	12	5017	c.4971C>T	c.(4969-4971)gtC>gtT	p.V1657V	SPHKAP_ENST00000344657.5_Silent_p.V1628V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1657						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGCTGCACGACATCTAGAA	0.498000													3	11					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672000													3	13					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20493436	20493436	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:20493436C>T	ENST00000504154.1	+	9	1080	c.828C>T	c.(826-828)gcC>gcT	p.A276A	SLIT2_ENST00000503837.1_Silent_p.A280A|SLIT2_ENST00000503823.1_Silent_p.A276A|SLIT2_ENST00000273739.5_Silent_p.A280A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	276	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCCCTGCCGCCTGTACCTGTA	0.418000													7	42					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108292	140108292	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:140108292C>T	ENST00000371521.4	+	4	455	c.372C>T	c.(370-372)ctC>ctT	p.L124L	NDOR1_ENST00000427047.2_Silent_p.L124L|NDOR1_ENST00000344894.5_Silent_p.L124L|NDOR1_ENST00000458322.2_Silent_p.L124L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	124	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGCGCCCTCCTGCCCGTGT	0.677000													5	26					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525921	176525921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176525921G>A	ENST00000367662.3	+	2	1627	c.463G>A	c.(463-465)Gag>Aag	p.E155K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E155K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	155					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AAGATCCAAGGAGTCTCTAGG	0.542000													4	69					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356210	40356210	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:40356210G>A	ENST00000310169.2	+	5	1252	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	371					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ACCACCTCACGAAAGTTTATA	0.493000													7	69					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103006655	103006655	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:103006655G>A	ENST00000409599.1	+	10	1445	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	IL18R1_ENST00000233957.1_Silent_p.T363T			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	363					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GACATTTAACGAGAAGAGATG	0.333000													9	45					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58124079	58124079	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58124079G>A	ENST00000357272.4	+	29	5097	c.4932G>A	c.(4930-4932)ggG>ggA	p.G1644G	FLNB_ENST00000348383.5_Silent_p.G1644G|FLNB_ENST00000490882.1_Silent_p.G1675G|FLNB_ENST00000493452.1_Silent_p.G1475G|FLNB_ENST00000295956.4_Silent_p.G1644G|FLNB_ENST00000419752.2_Silent_p.G1475G|FLNB_ENST00000358537.3_Silent_p.G1644G|FLNB_ENST00000429972.2_Silent_p.G1644G			O75369	FLNB_HUMAN	filamin B, beta	1644					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G1675G(1)|p.G1644G(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACTGCCGGGAAGGGTAAAG	0.522000													6	64					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781871	128781871	+	Missense_Mutation	SNP	C	C	T	rs148462487		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:128781871C>T	ENST00000529694.1	+	2	1079	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	KCNJ5_ENST00000338350.4_Missense_Mutation_p.R235W|KCNJ5_ENST00000533599.1_Missense_Mutation_p.R235W	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	235					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCCTCCATCCGGGCCAAGCT	0.607000													9	75					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595143	31595143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31595143C>T	ENST00000379416.3	-	17	1855	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	603					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGAGACAGCTCATTCTCGTAG	0.647000													74	161					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343727	36343727	+	Silent	SNP	C	C	T	rs149881845	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36343727C>T	ENST00000339796.5	-	3	1073	c.228G>A	c.(226-228)gcG>gcA	p.A76A	ETV7_ENST00000340181.4_Silent_p.A76A|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373738.1_Intron|ETV7_ENST00000373737.4_Silent_p.A76A	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	76	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						ACCCGTGCTCCGCGGTGCATG	0.652000													6	53					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110757099	110757099	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110757099G>A	ENST00000368919.3	-	6	1443	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	SLC22A16_ENST00000439654.1_Silent_p.G459G|SLC22A16_ENST00000330550.4_Silent_p.G425G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	459					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATAAATGAGGCCAAATGCTG	0.363000													6	42					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222794578	222794578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:222794578C>T	ENST00000344922.5	+	2	236	c.211C>T	c.(211-213)Cct>Tct	p.P71S	MIA3_ENST00000344507.1_Missense_Mutation_p.P71S|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.P71S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	71	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAAGGTGATCCTGTATATGT	0.363000													19	292					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011608	140011608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140011608C>T	ENST00000302014.6	-	2	1590	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CD14_ENST00000401743.2_Missense_Mutation_p.V321M	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	321					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTTATCCACCTCGGGCAGC	0.627000													4	19					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17482217	17482217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:17482217C>T	ENST00000302539.4	-	6	954	c.829G>A	c.(829-831)Gac>Aac	p.D277N	ABCC8_ENST00000389817.3_Missense_Mutation_p.D277N	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	277					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCCTGAATGTCCTTCCGCTGC	0.637000													29	124					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681838	18681838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:18681838G>A	ENST00000380548.4	+	12	1709	c.1370G>A	c.(1369-1371)aGa>aAa	p.R457K	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R457K|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R457K	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	457	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGGGCCTCAGATACCGTGTG	0.502000													7	101					0	0	1	0	0
IGHV3-64	28414	broad.mit.edu	37	14	107114168	107114168	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:107114168G>A	ENST00000454421.2	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.468000													4	52					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196998	62196998	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62196998A>T	ENST00000467148.1	-	8	3246	c.3177T>A	c.(3175-3177)gcT>gcA	p.A1059A	HELZ2_ENST00000427522.2_Silent_p.A490A	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCCAGAAGTCAGCCTCTGCAT	0.672000													4	41					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279701	47279701	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47279701C>T	ENST00000271153.4	+	6	774	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CYP4B1_ENST00000452782.2_Silent_p.F84F|CYP4B1_ENST00000371919.4_Silent_p.F232F|CYP4B1_ENST00000371923.4_Silent_p.F247F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	246					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCCGCCGCTTCCTGCGGGCCT	0.597000													24	121					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825179	23825179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:23825179C>T	ENST00000354639.3	+	18	2626	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L	STK31_ENST00000355870.3_Missense_Mutation_p.P744L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.P744L|STK31_ENST00000428484.1_Missense_Mutation_p.P721L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	744	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCAAGCGTCCTTTGGTACGT	0.433000													9	31					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203257	1203257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1203257G>A	ENST00000349431.6	-	2	335	c.116C>T	c.(115-117)tCg>tTg	p.S39L	UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000360466.2_Missense_Mutation_p.S39L|UBE2J2_ENST00000400930.4_Missense_Mutation_p.S39L|UBE2J2_ENST00000348298.7_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	39					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GAGAATATTCGAAGGGAGGGG	0.632000													43	179					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57951298	57951298	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57951298G>A	ENST00000564448.1	-	21	2082	c.2022C>T	c.(2020-2022)ttC>ttT	p.F674F	CNGB1_ENST00000251102.8_Silent_p.F680F			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	680					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTGGTAGGGGAAGGCCCAGC	0.562000													7	103					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264798	51264798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:51264798G>A	ENST00000266037.9	+	16	1485	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	488	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCTCGCTGGGGAGAAATTAT	0.502000													15	63					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117551	58117551	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58117551T>G	ENST00000332854.6	+	3	878	c.658T>G	c.(658-660)Ttt>Gtt	p.F220V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGGAAATCTTTTAGAGAGAA	0.443000													5	51					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210577943	210577943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:210577943C>T	ENST00000367010.1	+	6	831	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	HHAT_ENST00000308852.6_Missense_Mutation_p.P157S|HHAT_ENST00000545781.1_Missense_Mutation_p.P139S|HHAT_ENST00000261458.3_Missense_Mutation_p.P202S|HHAT_ENST00000545154.1_Missense_Mutation_p.P203S|HHAT_ENST00000391905.3_Missense_Mutation_p.P202S|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.P202S|HHAT_ENST00000537898.1_Missense_Mutation_p.P137S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	202					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTACTCCTTTCCCTGGATGCT	0.562000													8	54					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62654191	62654191	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62654191T>G	ENST00000535781.1	+	13	1840	c.1729T>G	c.(1729-1731)Tgg>Ggg	p.W577G	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	577					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAAGAGTGTGTGGCTGCGCGC	0.577000													9	53					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818635	26818635	+	Splice_Site	SNP	C	C	T	rs139298501		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26818635C>T	ENST00000444914.3	+	5	1322	c.902_splice	c.e5+1	p.S301_splice	SLC13A2_ENST00000537681.1_Splice_Site_p.S181_splice|SLC13A2_ENST00000545060.1_Splice_Site_p.S209_splice|SLC13A2_ENST00000314669.5_Splice_Site_p.S252_splice	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	252						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGATCAACTCGTGAGTGACA	0.632000													4	40					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323855	152323855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152323855G>A	ENST00000388718.5	-	3	6479	c.6407C>T	c.(6406-6408)tCa>tTa	p.S2136L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2136							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCAGATCCTGACTCTCCATG	0.522000													21	105					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134755113	134755113	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:134755113C>T	ENST00000368586.5	-	3	388	c.288G>A	c.(286-288)ccG>ccA	p.P96P	TTC40_ENST00000368585.3_Silent_p.P96P|TTC40_ENST00000368582.2_Silent_p.P96P	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGCCGACTTCGGGGCACACA	0.577000													6	44					0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54900748	54900748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54900748G>A	ENST00000521604.2	-	5	795	c.392C>T	c.(391-393)cCt>cTt	p.P131L	TCEA1_ENST00000396401.3_Missense_Mutation_p.P110L|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	131					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TGGTGCCCGAGGAAAGGATGA	0.463000			T	PLAG1	salivary adenoma								3	20					0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40328403	40328403	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40328403G>A	ENST00000221801.3	-	6	743	c.630C>T	c.(628-630)atC>atT	p.I210I	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	210					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCACAGGAATGATGTTGGTCC	0.532000													9	85					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47612360	47612360	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47612360C>T	ENST00000371917.4	+	23	3162	c.3162C>T	c.(3160-3162)gcC>gcT	p.A1054A		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1054					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GACAGATGGCCAGCTTCCAAG	0.438000													11	119					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128488636	128488636	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128488636C>T	ENST00000325888.8	+	27	4863	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	FLNC_ENST00000346177.6_Silent_p.L1534L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1534					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGGTCCTCCCAGCTCATG	0.632000													13	276					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227500	38227500	+	Missense_Mutation	SNP	G	G	T	rs45567442		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:38227500G>T	ENST00000373048.4	-	3	426	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	EPHA10_ENST00000427468.2_Missense_Mutation_p.R143S|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143S	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	143						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGCCTAGGCGGGGACGCCCA	0.657000													5	77					1	1	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1246001	1246001	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:1246001C>T	ENST00000348261.5	+	5	869	c.621C>T	c.(619-621)ctC>ctT	p.L207L	CACNA1H_ENST00000358590.4_Silent_p.L207L|CACNA1H_ENST00000565831.1_Silent_p.L207L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	207					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCGGCCCCTCCGCGCCATCA	0.662000													6	61					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751877	53751877	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:53751877C>T	ENST00000302005.1	+	1	433	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	86					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				AAGACATCATCATTCAGACCT	0.527000													8	40					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74204120	74204120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:74204120G>A	ENST00000396467.1	-	4	334	c.196C>T	c.(196-198)Cga>Tga	p.R66*	RPL7_ENST00000396466.1_Nonsense_Mutation_p.R66*|RPL7_ENST00000352983.2_Nonsense_Mutation_p.R106*|RPL7_ENST00000396465.1_Nonsense_Mutation_p.R66*	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	106					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			AACACCTTTCGAACCTTTGGG	0.398000													9	69					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205814602	205814602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205814602C>T	ENST00000367136.4	-	3	384	c.340G>A	c.(340-342)Gac>Aac	p.D114N	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	114						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AAGCTGGGGTCCGAGCCTTGG	0.552000													7	83					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2429138	2429138	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2429138G>A	ENST00000452833.1	-	19	2801	c.2793C>T	c.(2791-2793)gcC>gcT	p.A931A	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Silent_p.A929A|TRPM5_ENST00000533060.1_Silent_p.A929A|TRPM5_ENST00000155858.6_Silent_p.A929A			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	929						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTCACACGGGCTTCTGGAA	0.627000													25	276					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784168	9784168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:9784168C>T	ENST00000304374.2	+	1	911	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	172					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCCTCATCTCCTTCATTCCG	0.627000													6	45					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382720	80382720	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:80382720C>T	ENST00000265080.4	+	9	1405	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	446					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAGAATGATCGTGGAGGGCT	0.507000													9	53					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88909200	88909200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:88909200G>A	ENST00000268695.5	-	2	246	c.158C>T	c.(157-159)tCc>tTc	p.S53F	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	53			Missing (in MPS4A).|S -> F (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGTCTCTCTGGAGGGCTCTCC	0.602000													5	26					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978764	58978764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:58978764C>T	ENST00000361050.3	-	1	1660	c.1575G>A	c.(1573-1575)gcG>gcA	p.A525A		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	525						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAAAGGGGACCGCAAACCTGC	0.517000													16	34					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1565904	1565904	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:1565904C>T	ENST00000357210.4	+	20	3252	c.3036C>T	c.(3034-3036)ttC>ttT	p.F1012F	MIB2_ENST00000355826.5_Silent_p.F1055F|MIB2_ENST00000505820.2_Silent_p.F1069F|MIB2_ENST00000520777.1_Silent_p.F1065F|MIB2_ENST00000518681.1_Silent_p.F1004F|MIB2_ENST00000378710.3_Silent_p.F976F|MIB2_ENST00000504599.1_Silent_p.F968F|MIB2_ENST00000360522.4_Silent_p.F977F|MIB2_ENST00000378712.1_3'UTR|MIB2_ENST00000378708.1_Silent_p.F918F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	1012					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGATCTTCGTGTGAGCCG	0.677000													5	18					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545435	94545435	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94545435G>A	ENST00000330836.5	-	2	785	c.654C>T	c.(652-654)atC>atT	p.I218I	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Silent_p.I175I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	218					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCAGGGCTTGGATTGGTGTGG	0.547000													6	102					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046592	9046592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9046592G>A	ENST00000397910.4	-	5	35242	c.35039C>T	c.(35038-35040)cCc>cTc	p.P11680L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11682	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCACTAGAGGGAACAGTCCG	0.517000													5	50					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123005614	123005614	+	Missense_Mutation	SNP	C	C	T	rs148824947		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123005614C>T	ENST00000462833.1	-	20	4787	c.3575G>A	c.(3574-3576)cGa>cAa	p.R1192Q	ADCY5_ENST00000309879.5_Missense_Mutation_p.R842Q|ADCY5_ENST00000491190.1_Missense_Mutation_p.R850Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1192	Guanylate cyclase 2.				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)		CTGAGGCTTTCGTGCCCCTAT	0.617000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	40					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	G	A	rs76525337	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:125516744G>A	ENST00000241305.3	-	12	2056	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	634					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCATGAACACGATCAGAGATT	0.532000													6	52					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536668	5536668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5536668C>T	ENST00000380184.1	-	1	1267	c.1004G>A	c.(1003-1005)aGc>aAc	p.S335N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	335										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACCACCAGAGCTATTATAGAT	0.502000													6	55					0	0	1	0	0
WDR92	116143	broad.mit.edu	37	2	68364491	68364491	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:68364491G>A	ENST00000295121.6	-	6	824	c.708C>T	c.(706-708)ttC>ttT	p.F236F	WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000409164.1_Silent_p.F236F|WDR92_ENST00000406245.2_Silent_p.F135F	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	236					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CAAAAACATGGAACTTTCCTT	0.358000													4	40					0	0	1	0	0
TMEM217	221468	broad.mit.edu	37	6	37186564	37186564	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:37186564G>A	ENST00000336655.2	-	2	282	c.243C>T	c.(241-243)ttC>ttT	p.F81F	TMEM217_ENST00000356757.2_Silent_p.F81F|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	81						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						AGTACAGGAGGAAGCAGCTGA	0.423000													6	77					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592942	158592942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158592942C>T	ENST00000368148.3	-	43	6131	c.5951G>A	c.(5950-5952)aGa>aAa	p.R1984K	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R1981K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1984					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)					CTCGGGAAGTCTCTCTTGCTG	0.498000													30	237					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080126	194080126	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194080126G>A	ENST00000347624.3	-	2	1732	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	LRRC15_ENST00000428839.1_Silent_p.V555V|LRRC15_ENST00000439944.2_Silent_p.V555V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	549						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGGCCAGGGCGACAATGCCAA	0.582000													4	67					0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46751328	46751328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46751328G>A	ENST00000343304.6	-	4	1486	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	401										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGACGGGTGCGAGCACCCTTC	0.552000													5	105					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295200	295200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:295200G>A	ENST00000390665.3	-	13	1648	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	544					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGGCCAGCGGGGAGCGCAGC	0.701000													5	30					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066487	18066487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:18066487C>T	ENST00000506618.2	-	1	999	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	307					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAAACAGATTCCCCATTATGA	0.348000													40	161					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429402	20429402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20429402C>T	ENST00000331849.4	+	3	373	c.226C>T	c.(226-228)Cct>Tct	p.P76S	ACSM5_ENST00000575584.1_Missense_Mutation_p.P76S	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	76					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.P76T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCCCCCAAATCCTGCCTTCTG	0.493000													4	26					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015872	34015872	+	Missense_Mutation	SNP	C	C	T	rs149704396	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34015872C>T	ENST00000373381.4	-	56	8998	c.8822G>A	c.(8821-8823)cGg>cAg	p.R2941Q		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2917	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGCTGTACCGCACCACTGC	0.597000													9	64					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40883698	40883698	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40883698C>T	ENST00000409587.1	+	12	1588	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PLD3_ENST00000356508.5_Silent_p.L397L|PLD3_ENST00000409735.4_Silent_p.L397L|PLD3_ENST00000409281.1_Silent_p.L397L|PLD3_ENST00000409419.1_Silent_p.L397L			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	397					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCAGAAACTCTTTGTGGTCC	0.602000													4	34					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98718853	98718853	+	Splice_Site	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:98718853G>T	ENST00000336273.3	+	8	1475		c.e8-1		MTDH_ENST00000519934.1_Splice_Site	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin						lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TTAAATTTTAGATGGTCTGTC	0.373000													4	48					0.150653	0.151545	1	1	0
HCK	3055	broad.mit.edu	37	20	30672323	30672323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30672323G>A	ENST00000534862.1	+	9	1115	c.752G>A	c.(751-753)gGg>gAg	p.G251E	HCK_ENST00000518730.1_Missense_Mutation_p.G249E|HCK_ENST00000375862.2_Missense_Mutation_p.G270E|HCK_ENST00000375852.2_Missense_Mutation_p.G271E|HCK_ENST00000538448.1_Missense_Mutation_p.G250E|HCK_ENST00000520553.1_Missense_Mutation_p.G250E	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	271					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTGGAGCTGGGCAGTTTGGG	0.602000													6	43					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107956591	107956591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:107956591C>T	ENST00000285311.3	-	1	863	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	53					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCGCAGATCGATTGGCGGC	0.577000													15	63					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781746	83781746	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83781746G>A	ENST00000566620.1	+	11	1862	c.1572G>A	c.(1570-1572)ctG>ctA	p.L524L	CDH13_ENST00000268613.10_Silent_p.L571L|RP11-298D21.1_ENST00000563981.1_RNA|RP11-298D21.1_ENST00000570056.1_RNA|CDH13_ENST00000428848.3_Silent_p.L485L|RP11-298D21.1_ENST00000569165.1_RNA	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	524	Cadherin 4.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CAGGTTGGCTGAATATTAACC	0.463000													13	101					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364996	11364996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:11364996G>A	ENST00000304623.8	-	8	1373	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.S304F|CTNND2_ENST00000359640.2_Missense_Mutation_p.S395F|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.S58F	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	395					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGAGGCTCGGGAACCAGCTGA	0.488000													13	66					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948454	82948454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:82948454G>A	ENST00000274341.4	-	3	1140	c.290C>T	c.(289-291)tCc>tTc	p.S97F	HAPLN1_ENST00000514416.1_Missense_Mutation_p.S97F	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	97	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GTATCCCATGGAAACAAAAAC	0.448000													8	50					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73569340	73569340	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73569340C>T	ENST00000392550.3	+	20	2823	c.2706C>T	c.(2704-2706)gtC>gtT	p.V902V	LLGL2_ENST00000167462.5_Silent_p.V902V|LLGL2_ENST00000577200.1_Silent_p.V902V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	902					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCCTGCGTCTTCACCAAAT	0.677000													29	87					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26484171	26484171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26484171C>T	ENST00000311151.5	+	5	929	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	DPYSL2_ENST00000523027.1_Missense_Mutation_p.R137C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R137C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	173					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTTCAAAGATCGCTTCCAGCT	0.453000													12	75					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408594	40408594	+	Silent	SNP	G	G	A	rs141092836		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40408594G>A	ENST00000221347.6	-	8	4252	c.4245C>T	c.(4243-4245)ttC>ttT	p.F1415F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1415	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGAGTTGCCGAACTCATTGG	0.632000													10	74					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52756079	52756079	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52756079G>A	ENST00000257901.3	-	7	1329	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	KRT85_ENST00000544265.1_Silent_p.I206I	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	418	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.622000													8	79					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574446	140574446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140574446C>T	ENST00000239446.4	+	1	2505	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGTTATTTCGGATATTCAG	0.488000													7	46					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324224	7324224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7324224G>A	ENST00000323675.3	+	3	255	c.230G>A	c.(229-231)aGa>aAa	p.R77K	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	77					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TCATTACTCAGAAAGCAGACC	0.597000													6	97					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882008	2882008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2882008C>T	ENST00000382280.3	+	4	554	c.475C>T	c.(475-477)Caa>Taa	p.Q159*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Q129*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	159						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTACCCCAGCCAAGAGGGGCA	0.527000													10	73					0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1651891	1651891	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:1651891G>A	ENST00000324015.3	+	8	792		c.e8-1		SERPINF2_ENST00000450523.2_Splice_Site|SERPINF2_ENST00000382061.4_Splice_Site	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2						acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	CTGGGTTTCAGGTTTCTGGAG	0.632000													19	91					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50311713	50311713	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50311713G>A	ENST00000313777.4	-	10	1154	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUZ_ENST00000445575.2_Nonsense_Mutation_p.R331*|FUZ_ENST00000533418.1_Nonsense_Mutation_p.R281*|FUZ_ENST00000528094.1_Nonsense_Mutation_p.R295*	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	331	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TAGAAGTTTCGGAGGAGGCGC	0.672000													7	17					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628633	118628633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118628633C>T	ENST00000336338.5	-	13	1739	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	558						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GAAGAAATTCCCACAGTGGCA	0.423000													8	31					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727994	73727994	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73727994C>T	ENST00000200181.3	+	11	1504	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Silent_p.S439S|ITGB4_ENST00000450894.3_Silent_p.S439S|ITGB4_ENST00000449880.2_Silent_p.S439S|ITGB4_ENST00000339591.3_Silent_p.S439S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	439					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAACCTTCCTTCTCCGACG	0.627000													11	50					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103181	57103181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57103181C>T	ENST00000439986.4	-	11	1217	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	CCBE1_ENST00000398179.2_Missense_Mutation_p.E123K	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	394					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCTCTTGTCTCAGTTCTTCTT	0.512000													20	203					0	0	1	0	0
TRAV8-6	28680	broad.mit.edu	37	14	22447256	22447256	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22447256C>T	ENST00000390443.3	+	0	457																											TTAAAGGCATCAACGGTTTTG	0.458000											OREG0022573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	46					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766175	13766175	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:13766175C>T	ENST00000265104.4	-	59	10115	c.10011G>A	c.(10009-10011)gtG>gtA	p.V3337V	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3337	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTCAATTTTCACAGCACTGA	0.493000									Kartagener syndrome				6	46					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90582732	90582732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90582732G>A	ENST00000371930.4	-	6	752	c.542C>T	c.(541-543)tCc>tTc	p.S181F	ANKRD22_ENST00000476963.1_5'UTR	NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	181								p.S181F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		TTCAATCTGGGAAAATTTTAA	0.393000													9	84					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808005	20808005	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:20808005C>T	ENST00000601440.1	-	4	824	c.678G>A	c.(676-678)gaG>gaA	p.E226E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGGGTTTCTCTCCAGTAT	0.398000													3	19					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18125937	18125937	+	Missense_Mutation	SNP	C	C	T	rs137920496		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:18125937C>T	ENST00000278816.2	+	3	970	c.320C>T	c.(319-321)tCg>tTg	p.S107L	CSRP2BP_ENST00000435364.2_Missense_Mutation_p.S107L|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.S107L|CSRP2BP_ENST00000489634.2_5'UTR			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	107					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	p.S107L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTACTTGTTCGGATTGCTCA	0.448000													5	119					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167082994	167082994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167082994C>T	ENST00000361200.2	+	3	324	c.158C>T	c.(157-159)cCc>cTc	p.P53L	DUSP27_ENST00000271385.5_Missense_Mutation_p.P53L|DUSP27_ENST00000443333.1_Missense_Mutation_p.P53L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	53					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTCATGGAACCCATTCACCTC	0.458000													22	139					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069751	4069751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:4069751C>T	ENST00000274673.3	-	7	1109	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	236																	GTGAAAGGTTCCTCAACATTT	0.378000													13	67					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8615533	8615533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:8615533C>T	ENST00000338257.8	-	9	1084	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	273	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCTGCAGGACCAGCTGCTGG	0.587000													5	76					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52398945	52398945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52398945C>T	ENST00000420323.2	+	34	5689	c.5428C>T	c.(5428-5430)Ccc>Tcc	p.P1810S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1810					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTGTTTCCCACCATCAA	0.607000													15	65					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795084	40795084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:40795084C>T	ENST00000358268.2	-	5	1183	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	LCA5L_ENST00000380671.2_Missense_Mutation_p.E219K|LCA5L_ENST00000288350.3_Missense_Mutation_p.E219K|LCA5L_ENST00000485895.2_Missense_Mutation_p.E219K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	219										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTCCTTTTCCTGGGATTTC	0.338000													9	39					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135866351	135866351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:135866351C>T	ENST00000339463.3	+	11	1726	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	GFI1B_ENST00000372122.1_Missense_Mutation_p.P303S|GFI1B_ENST00000450530.1_Missense_Mutation_p.P303S|GFI1B_ENST00000372123.1_Missense_Mutation_p.P257S|GFI1B_ENST00000372124.1_Missense_Mutation_p.P257S|GFI1B_ENST00000534944.1_Missense_Mutation_p.P257S			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	303	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGGCTTCAAGCCCTTCAGCTG	0.632000													6	59					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2434411	2434411	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:2434411C>T	ENST00000452833.1	-	14	2063	c.2055G>A	c.(2053-2055)ctG>ctA	p.L685L	TRPM5_ENST00000528453.1_Silent_p.L683L|TRPM5_ENST00000533060.1_Silent_p.L683L|TRPM5_ENST00000155858.6_Silent_p.L683L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	683						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGGCTGTCCAGGTCCTGCA	0.701000													5	76					0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70263427	70263427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70263427G>A	ENST00000265870.2	-	4	481	c.383C>T	c.(382-384)tCa>tTa	p.S128L	SLC25A16_ENST00000493963.1_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.S30L	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16	128					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CACATGACCTGAAATTCCCAG	0.294000													19	77					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711020	20711020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:20711020C>T	ENST00000315409.2	+	1	123	c.70C>T	c.(70-72)Ctc>Ttc	p.L24F		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AGAGTTTATTCTCCTGGGATT	0.418000													5	25					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47219486	47219486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47219486G>A	ENST00000433867.1	-	2	619	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	PRKD2_ENST00000291281.4_Missense_Mutation_p.H48Y|PRKD2_ENST00000595515.1_Missense_Mutation_p.H48Y|PRKD2_ENST00000601806.1_5'UTR	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	48					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ATCTGGATGTGAAAGGAGACC	0.697000													5	49					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19436542	19436542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:19436542C>T	ENST00000538714.1	+	11	1628	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P434S|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P434S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P542S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.P542S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P548S|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.P542S|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.P542S|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P542S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P300S	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	542							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCACTCTATTCCCACATCACC	0.458000													10	115					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72553947	72553947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:72553947G>A	ENST00000569795.1	-	9	1184	c.497C>T	c.(496-498)aCc>aTc	p.T166I	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.T166I|PARP6_ENST00000260376.7_Missense_Mutation_p.T166I			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	166							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTTCTTGATGGTACCACTTGC	0.478000													50	171					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547874	228547874	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228547874G>A	ENST00000284548.11	+	81	19355	c.19281G>A	c.(19279-19281)gcG>gcA	p.A6427A	OBSCN_ENST00000366709.4_Silent_p.A3546A|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				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)				TGGAGGAGGCGGGAGAGGAAG	0.632000													5	26					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	G	A	rs146418495		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48619044G>A	ENST00000328333.8	-	49	4851	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1582S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1582	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCTCCAGGAAGAACCAAG	0.567000													10	56					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46996740	46996740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:46996740C>T	ENST00000371253.2	-	2	273	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G20S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	20					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCAGGAAGCCACCGTGGCCG	0.512000													5	27					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73752875	73752875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73752875G>A	ENST00000200181.3	+	37	5175	c.4988G>A	c.(4987-4989)cGg>cAg	p.R1663Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.R1593Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1593Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1646Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1646Q|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1663	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGGAGCGGCCACGGAGG	0.687000													12	91					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804145	27804145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27804145C>T	ENST00000408964.2	+	1	4757	c.4706C>T	c.(4705-4707)cCc>cTc	p.P1569L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1569	Arg-rich.									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)					CATCGCAGTCCCTCTGAGAGA	0.537000													33	71					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163482	180163482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180163482C>T	ENST00000367602.3	+	11	1497	c.1423C>T	c.(1423-1425)Ctc>Ttc	p.L475F	QSOX1_ENST00000367600.5_Missense_Mutation_p.L475F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	475	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCCGCTGTCCTCTGGCTCTG	0.622000													8	76					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459396	84459396	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84459396G>A	ENST00000416219.2	+	11	1064	c.975G>A	c.(973-975)acG>acA	p.T325T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.T325T			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	325					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTATGTTCACGATCGGGGTCA	0.552000													17	237					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58112433	58112433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58112433C>T	ENST00000357272.4	+	24	4331	c.4166C>T	c.(4165-4167)cCt>cTt	p.P1389L	FLNB_ENST00000348383.5_Missense_Mutation_p.P1389L|FLNB_ENST00000490882.1_Missense_Mutation_p.P1389L|FLNB_ENST00000493452.1_Missense_Mutation_p.P1220L|FLNB_ENST00000295956.4_Missense_Mutation_p.P1389L|FLNB_ENST00000419752.2_Missense_Mutation_p.P1220L|FLNB_ENST00000358537.3_Missense_Mutation_p.P1389L|FLNB_ENST00000429972.2_Missense_Mutation_p.P1389L			O75369	FLNB_HUMAN	filamin B, beta	1389	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAGTACATTCCTTTCGCACCG	0.488000													6	75					0	0	1	0	0
GOLGA1	2800	broad.mit.edu	37	9	127683504	127683504	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:127683504A>T	ENST00000373555.4	-	10	1080	c.747T>A	c.(745-747)gcT>gcA	p.A249A		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	249						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CTGTTTTTGAAGCTATCACAT	0.373000													5	85					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207648364	207648364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207648364G>A	ENST00000367057.3	+	14	2708	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	CR2_ENST00000458541.2_Missense_Mutation_p.R754Q|CR2_ENST00000367058.3_Missense_Mutation_p.R781Q|CR2_ENST00000367059.3_Missense_Mutation_p.R781Q	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	909	Sushi 13.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CAGTGCTTACGATCTCCTCCT	0.453000													5	11					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123271120	123271120	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123271120C>T	ENST00000264501.4	+	80	14113	c.13740C>T	c.(13738-13740)ttC>ttT	p.F4580F	KIAA1109_ENST00000388738.3_Silent_p.F4580F			Q2LD37	K1109_HUMAN	KIAA1109	4580					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGGAATTTTTCACACAACAAT	0.413000													4	18					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049583	69049583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:69049583C>T	ENST00000295381.3	+	10	1728	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.R131C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R438C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R431C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R430C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R398C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	437					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AATGCAATCTCGTAAAAGGAC	0.483000													12	77					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206790	49206790	+	Missense_Mutation	SNP	G	G	A	rs148371614	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49206790G>A	ENST00000425340.2	+	2	694	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	FUT2_ENST00000391876.4_Missense_Mutation_p.G193S	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	193					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GAGCCGGCCGGGCACCTTTGT	0.652000													4	62					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156835556	156835556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:156835556G>A	ENST00000536354.2	+	8	872	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	270					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTTATTTGATGAGAAACGTCA	0.353000													4	14					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876768	39876768	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39876768C>T	ENST00000530275.1	+	1	618	c.423C>T	c.(421-423)ccC>ccT	p.P141P	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	141										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			AGCAGCACCCCCTTGGGGACA	0.522000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968334	102968334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:102968334C>T	ENST00000233954.1	+	11	1895	c.1624C>T	c.(1624-1626)Ccc>Tcc	p.P542S		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	542					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAGCAAAATTCCCAGAAAGGC	0.488000													5	80					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34022080	34022080	+	Missense_Mutation	SNP	C	C	T	rs121909350		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:34022080C>T	ENST00000374372.1	-	4	1636	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	GDF5_ENST00000374369.3_Missense_Mutation_p.R378Q|GDF5OS_ENST00000374375.1_Missense_Mutation_p.R42C			P43026	GDF5_HUMAN	growth differentiation factor 5	378			R -> Q (in DPS).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCGCCGTTTTCGCCGCTGGCT	0.577000													30	157					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44470696	44470696	+	Missense_Mutation	SNP	C	C	T	rs150319141	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:44470696C>T	ENST00000251269.5	+	6	1370	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	ZNF221_ENST00000587682.1_Missense_Mutation_p.R348C|ZNF221_ENST00000592350.1_Missense_Mutation_p.R348C	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CAAGAACTTTCGTCAGAGATC	0.408000													12	66					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843217	7843217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7843217C>T	ENST00000329913.3	-	2	399	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	118					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTTCCCTTTCTTTGATGGCA	0.488000													9	89					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32841979	32841979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32841979C>T	ENST00000397452.1	-	5	489	c.379G>A	c.(379-381)Gac>Aac	p.D127N	BPIFC_ENST00000534972.1_Intron|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.D127N			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	127						extracellular region	lipopolysaccharide binding|phospholipid binding										CCTCCTGTGTCTTGGCTGTTT	0.478000													8	44					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605947	48605947	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48605947C>T	ENST00000328333.8	-	104	7886	c.7779G>A	c.(7777-7779)ggG>ggA	p.G2593G	COL7A1_ENST00000454817.1_Silent_p.G2561G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2593	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCAGGGATCCCTGCTGCAC	0.637000													4	30					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875986	154875986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:154875986G>A	ENST00000287907.2	+	2	1439	c.863G>A	c.(862-864)gGc>gAc	p.G288D	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	288						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTCATGGTGGGCATCCTCATT	0.632000													6	68					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754664	76754664	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:76754664G>A	ENST00000536229.3	+	1	2983	c.2274G>A	c.(2272-2274)gcG>gcA	p.A758A	SALL3_ENST00000575389.2_Silent_p.A891A|SALL3_ENST00000537592.2_Silent_p.A891A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCGCAGCGCGGGCAGCCCCG	0.726000													9	28					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101590174	101590174	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:101590174C>T	ENST00000370449.4	+	20	2844	c.2731C>T	c.(2731-2733)Cga>Tga	p.R911*		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	911						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CAGCTTTCGTCGAACACTTAG	0.473000													5	69					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:46998367G>A	ENST00000599531.1	-	1	1388	c.356C>T	c.(355-357)gCg>gTg	p.A119V	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Missense_Mutation_p.A119V|AC011484.1_ENST00000377652.3_Missense_Mutation_p.A160T	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	119										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)		CCCAGCCTCCGCGGCCTGCGT	0.692000													10	86					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36478149	36478149	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36478149C>T	ENST00000312513.5	+	7	962	c.801C>T	c.(799-801)ccC>ccT	p.P267P		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	267					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGATCGTTCCCCCATGGGCAC	0.512000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169698647	169698647	+	Missense_Mutation	SNP	C	C	T	rs5364	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169698647C>T	ENST00000333360.7	-	6	1022	c.883G>A	c.(883-885)Gag>Aag	p.E295K	SELE_ENST00000367776.1_Missense_Mutation_p.E295K|SELE_ENST00000367774.1_Missense_Mutation_p.E295K|SELE_ENST00000367779.4_Missense_Mutation_p.E295K|SELE_ENST00000367777.1_Missense_Mutation_p.E295K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E233K|SELE_ENST00000367781.4_Missense_Mutation_p.E295K|SELE_ENST00000367782.4_Missense_Mutation_p.E295K|SELE_ENST00000367780.4_Missense_Mutation_p.E233K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	295	Sushi 2.		E -> K (in dbSNP:rs5364).		actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GTTGGCTTCTCGTTGTCCCAA	0.458000													8	25					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750540	42750540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:42750540C>T	ENST00000310232.6	-	16	2163	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	694								p.E694K(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCCAGGATCTCATGGTACATC	0.612000													5	54					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744125	147744125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:147744125G>A	ENST00000370460.2	+	3	1356	c.877G>A	c.(877-879)Gat>Aat	p.D293N	AFF2_ENST00000342251.3_Missense_Mutation_p.D289N|AFF2_ENST00000370458.1_Missense_Mutation_p.D289N|AFF2_ENST00000370457.5_Missense_Mutation_p.D289N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	293					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGACCCATGGATGGCCAGGA	0.493000													4	36					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238473	129238473	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129238473C>T	ENST00000296266.3	+	30	3879	c.3687C>T	c.(3685-3687)cgC>cgT	p.R1229R	IFT122_ENST00000504021.1_Silent_p.R1055R|IFT122_ENST00000440957.2_Silent_p.R969R|IFT122_ENST00000431818.2_Silent_p.R1028R|IFT122_ENST00000349441.2_Silent_p.R1068R|IFT122_ENST00000348417.2_Silent_p.R1178R|IFT122_ENST00000347300.2_Silent_p.R1119R|IFT122_ENST00000507564.1_Silent_p.R1171R	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	1178					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGCCGCCGGGATGTCC	0.642000													8	47					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097246	167097246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167097246G>A	ENST00000361200.2	+	6	3044	c.2878G>A	c.(2878-2880)Ggg>Agg	p.G960R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G960R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G960R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	960	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGTTCCAGAGGGAAGTACAC	0.488000													5	24					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300404	62300404	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62300404A>T	ENST00000378024.4	-	5	1759	c.1485T>A	c.(1483-1485)atT>atA	p.I495I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	495					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGGTTTCTGAATAATCATTT	0.473000													17	109					0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10397703	10397703	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10397703C>T	ENST00000393717.2	+	1	24	c.15C>T	c.(13-15)ttC>ttT	p.F5F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_Silent_p.F5F|ICAM4_ENST00000380770.3_Silent_p.F5F	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	5					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGTCTCTGTTCCCTCTGTCGC	0.672000													4	20					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127334785	127334785	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:127334785G>A	ENST00000265056.7	+	9	1753	c.1509G>A	c.(1507-1509)gaG>gaA	p.E503E		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	503	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCGGAGGGGAGCCCAAAAACC	0.527000													5	95					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27064861	27064861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27064861C>T	ENST00000268766.6	+	7	948	c.914C>T	c.(913-915)cCa>cTa	p.P305L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	305						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CCTGTGAGGCCAGCCATCCCA	0.627000													11	139					0	0	1	0	0
WFDC1	58189	broad.mit.edu	37	16	84360531	84360531	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:84360531G>A	ENST00000219454.5	+	6	974	c.648G>A	c.(646-648)caG>caA	p.Q216Q	WFDC1_ENST00000568638.1_Silent_p.Q216Q			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	216					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GGGGACAACAGAAGCACTTTC	0.512000													4	53					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37053562	37053562	+	Missense_Mutation	SNP	C	C	T	rs4986984	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37053562C>T	ENST00000231790.2	+	8	865	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.R119C|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	217			R -> C (in HNPCC2; could be a polymorphism; proficient in a mismatch repair assay; dbSNP:rs4986984).|R -> G.		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.R217C(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GGACAATATTCGCTCCATCTT	0.358000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	47					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822518	45822518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45822518G>A	ENST00000177694.1	+	6	1605	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	465					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCTCAGAGGGACGGGGACCA	0.657000													5	29					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274297	122274297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:122274297G>A	ENST00000462315.1	-	4	1014	c.721C>T	c.(721-723)Cac>Tac	p.H241Y	PARP9_ENST00000471785.1_Missense_Mutation_p.H241Y|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Missense_Mutation_p.H241Y|PARP9_ENST00000360356.2_Missense_Mutation_p.H276Y	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	276	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTCACCAGGTGAATTTCTTTC	0.428000													13	88					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860804	13860804	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:13860804C>T	ENST00000285018.4	-	4	991	c.687G>A	c.(685-687)aaG>aaA	p.K229K		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	229					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGTACTTGTCCTTGAGCACGT	0.597000													8	64					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333466	70333466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70333466G>A	ENST00000338508.4	-	32	2934	c.2935C>T	c.(2935-2937)Cgc>Tgc	p.R979C	SHANK2_ENST00000409161.1_Missense_Mutation_p.R382C|SHANK2_ENST00000449833.2_Missense_Mutation_p.R383C|SHANK2_ENST00000423696.2_Missense_Mutation_p.R599C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	599					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTCTTGTTGCGGAAGTTGGCT	0.597000													9	68					0	0	1	0	0
CD209	30835	broad.mit.edu	37	19	7809887	7809887	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7809887G>A	ENST00000315599.7	-	5	862	c.840C>T	c.(838-840)tcC>tcT	p.S280S	CD209_ENST00000601256.1_Silent_p.S256S|CD209_ENST00000315591.8_Silent_p.S256S|CD209_ENST00000354397.6_Silent_p.S280S|CD209_ENST00000301357.8_Silent_p.S144S|CD209_ENST00000601951.1_Silent_p.S256S|CD209_ENST00000204801.8_Silent_p.S236S|CD209_ENST00000593821.1_Silent_p.S144S|CD209_ENST00000602261.1_Silent_p.S188S|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.S210S|CD209_ENST00000394173.4_Silent_p.S119S	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	280	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGGCGGTGATGGAGTCGTGCC	0.587000													9	80					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892158	22892158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:22892158G>A	ENST00000543184.1	-	4	1805	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	PRAME_ENST00000398743.2_Nonsense_Mutation_p.Q315*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.Q315*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.Q315*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.Q315*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.Q299*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.Q299*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	315					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTGAGCAACTGATCCAGGCGG	0.493000													6	22					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12933921	12933921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:12933921C>T	ENST00000379348.2	+	4	484	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGTGCCAACTCTTGGGCGTCC	0.537000													4	30					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090569	39090569	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39090569G>A	ENST00000591517.1	-	22	1693	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	MAP4K1_ENST00000423454.2_Intron|MAP4K1_ENST00000396857.2_Silent_p.L555L|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Silent_p.L551L	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	555	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.L555L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGACCTGAGAGAGACATGA	0.562000													17	120					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44050062	44050062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:44050062C>T	ENST00000543989.1	-	6	1857	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	ABCG5_ENST00000260645.1_Missense_Mutation_p.R446Q|ABCG5_ENST00000405322.1_Missense_Mutation_p.R275Q			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	446					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCTGACAGCTCGCAGCACGGG	0.582000													9	83					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120437752	120437752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:120437752C>T	ENST00000369400.1	-	1	1366	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	403	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTTTGTTTCCACATCTCTT	0.388000													141	566					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696104	109696104	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109696104G>A	ENST00000465301.2	+	3	2505	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V	RGAG1_ENST00000540313.1_Silent_p.V753V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	753										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTCTGATGTGATGTCCACAC	0.542000													11	30					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3348636	3348636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3348636G>A	ENST00000378398.3	+	17	3710	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	PRDM16_ENST00000378391.2_Missense_Mutation_p.D1210N|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000442529.2_Missense_Mutation_p.D1209N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D1209N|PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000270722.5_Missense_Mutation_p.D1210N|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1210	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGAAGTTAAAGATGTGCTTAA	0.542000			T	EVI1	"""MDS, AML"""								5	77					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127767979	127767979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:127767979C>T	ENST00000483725.3	-	5	1821	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	495							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CATTGGTTTTCCAAATACCGG	0.463000													4	7					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141643749	141643749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141643749C>T	ENST00000546910.1	-	4	351	c.155G>A	c.(154-156)gGg>gAg	p.G52E	CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Intron|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	52					anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GGAACTGCTCCCAAAAATCTG	0.433000													5	15					0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95091130	95091130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:95091130C>T	ENST00000379982.3	+	6	1221	c.713C>T	c.(712-714)tCa>tTa	p.S238L	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	238					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGAAGCGTCACATTATAAC	0.358000													16	72					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155348104	155348104	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155348104G>A	ENST00000368346.3	-	10	6954	c.6315C>T	c.(6313-6315)acC>acT	p.T2105T	ASH1L_ENST00000392403.3_Silent_p.T2100T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2105	AWS.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGCCCTTCCTGGTGTCATCAT	0.418000													19	199					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10602036	10602036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10602036C>T	ENST00000547195.1	-	19	2688	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	MRVI1_ENST00000421747.1_Missense_Mutation_p.E812K|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000424001.1_Missense_Mutation_p.E506K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E730K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E615K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E730K|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000436272.1_Missense_Mutation_p.E794K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.E821K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E506K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E813K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E506K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E506K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	794					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTCAGTTTCTTCTACCTCT	0.458000													9	93					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206785	130206785	+	Missense_Mutation	SNP	G	G	A	rs148604589	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:130206785G>A	ENST00000342483.5	+	5	1212	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	ZNF79_ENST00000543471.1_Missense_Mutation_p.R245Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AAACACCAGCGAACCCACACC	0.522000													8	63					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524000	9524000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9524000G>A	ENST00000592904.1	-	5	3677	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	ZNF266_ENST00000361151.1_Missense_Mutation_p.S534F|ZNF266_ENST00000590306.1_Missense_Mutation_p.S534F|ZNF266_ENST00000588933.1_Missense_Mutation_p.S534F|ZNF266_ENST00000588221.1_Missense_Mutation_p.S534F|ZNF266_ENST00000361451.2_Missense_Mutation_p.S534F|ZNF266_ENST00000592292.1_Missense_Mutation_p.S534F			Q14584	ZN266_HUMAN	zinc finger protein 266	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ATTTCGAAAGGAACTGGAAGA	0.433000													7	53					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113014	145113014	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145113014G>A	ENST00000426825.1	-	8	1068	c.987C>T	c.(985-987)ttC>ttT	p.F329F	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	329							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGACGTGCTCGAATTCCCCAG	0.667000													9	108					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9063374	9063374	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9063374C>T	ENST00000400906.1	-	12	1523	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	508						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAAGTTTCCTTGGCAGGAG	0.532000													7	63					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328936	3328936	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3328936C>T	ENST00000378398.3	+	10	2260	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PRDM16_ENST00000378391.2_Silent_p.F725F|PRDM16_ENST00000511072.1_Silent_p.F726F|PRDM16_ENST00000442529.2_Silent_p.F725F|PRDM16_ENST00000441472.2_Silent_p.F725F|PRDM16_ENST00000514189.1_Silent_p.F726F|PRDM16_ENST00000270722.5_Silent_p.F725F|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	725	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACTCGGCGTTCCCCTTCCAGT	0.617000			T	EVI1	"""MDS, AML"""								11	57					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937078	90937078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:90937078C>T	ENST00000451899.2	+	6	1228	c.968C>T	c.(967-969)cCt>cTt	p.P323L	OSGIN2_ENST00000297438.2_Missense_Mutation_p.P279L	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	279					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GAAGATTTTCCTTTTGTGTTT	0.453000													3	18					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21862530	21862530	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:21862530C>T	ENST00000434536.1	+	28	3324	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	XPO7_ENST00000252512.9_Silent_p.F1065F|XPO7_ENST00000433566.4_Silent_p.F1066F			Q9UIA9	XPO7_HUMAN	exportin 7	1065					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGTCAGCATTCCGTCGAGAAG	0.468000													14	94					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791708	110791708	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:110791708C>T	ENST00000327908.3	+	4	2018	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	LRIT3_ENST00000379920.3_Silent_p.F556F|LRIT3_ENST00000409621.2_Silent_p.F418F|LRIT3_ENST00000594814.1_Silent_p.F601F			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	556						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGATTTGTTTCTTGTTGTACA	0.393000													6	39					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007708	62007708	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62007708G>A	ENST00000006750.3	-	3	248	c.156C>T	c.(154-156)ttC>ttT	p.F52F	CD79B_ENST00000392795.3_Silent_p.F53F|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	52	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCCTGGCTATGAAACGTGGGC	0.582000			"""Mis, O"""		DLBCL								11	25					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995570	53995570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:53995570C>T	ENST00000312233.2	-	4	1417	c.851G>A	c.(850-852)aGg>aAg	p.R284K		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	284					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGTGTGGCTCCTCAGGTGGAT	0.647000													13	44					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643659	39643659	+	Missense_Mutation	SNP	C	C	T	rs145372311	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643659C>T	ENST00000393986.2	-	6	993	c.781G>A	c.(781-783)Gag>Aag	p.E261K	KRT36_ENST00000328119.6_Missense_Mutation_p.E311K			O76013	KRT36_HUMAN	keratin 36	311	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGTCTCAGCTCGATGATCTCC	0.627000													12	26					0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8865530	8865530	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:8865530C>T	ENST00000523898.1	+	3	838	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ERI1_ENST00000250263.7_Silent_p.F53F|ERI1_ENST00000519292.1_Silent_p.F53F			Q8IV48	ERI1_HUMAN	exoribonuclease 1	53					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	GATCCAAGTTCATTACCTCCA	0.348000													4	69					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5610062	5610062	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5610062G>A	ENST00000252542.4	-	9	1504	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	SAFB2_ENST00000591310.1_5'UTR	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	414	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTGGAGGACAGCCCGCTGACC	0.557000													4	22					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201835969	201835969	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201835969C>T	ENST00000361565.4	+	15	1806	c.1737C>T	c.(1735-1737)gtC>gtT	p.V579V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	579					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						GCTCAGAGGTCCTCAACCTGG	0.522000													9	110					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433814	40433814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40433814G>A	ENST00000221347.6	-	2	462	c.455C>T	c.(454-456)tCa>tTa	p.S152L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	152	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATTCCTGGCTGAGGTGCCGGG	0.597000													6	51					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193050	48193050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48193050G>A	ENST00000330175.4	-	7	1017	c.700C>T	c.(700-702)Ccg>Tcg	p.P234S	SAMD14_ENST00000503131.1_Missense_Mutation_p.P234S	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGCAGGAACGGGGAGCCCCCT	0.642000													5	160					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658900	3658900	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:3658900G>A	ENST00000294008.3	-	2	706	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	22	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCCCAGGACAGGCAGACAGAT	0.468000								Direct reversal of damage					5	47					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22040791	22040791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:22040791G>A	ENST00000261200.4	-	13	1879	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.P627L|ABCC9_ENST00000345162.2_Missense_Mutation_p.P627L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	627					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGACTCAAAAGGAAGCGAACT	0.393000													9	37					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198340	170198340	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:170198340G>A	ENST00000231706.4	-	7	2046	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	577						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGCAGAAGATGAACATGAGGA	0.562000													4	33					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460341	107460341	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107460341G>T	ENST00000409382.3	-	2	703	c.93C>A	c.(91-93)acC>acA	p.T31T	ST6GAL2_ENST00000409087.3_Silent_p.T31T|ST6GAL2_ENST00000361686.4_Silent_p.T31T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	31					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGTTGCTGTCGGTGAAGTAGA	0.572000													4	55					0.150653	0.151545	1	1	0
RIC8A	60626	broad.mit.edu	37	11	209331	209331	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:209331C>T	ENST00000527696.1	+	1	263	c.39C>T	c.(37-39)gcC>gcT	p.A13A	RIC8A_ENST00000526104.1_Intron|RIC8A_ENST00000325207.5_Intron			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	0						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGTGCTGGCCCAAGGGGTAA	0.612000													7	130					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179124	58179124	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:58179124G>A	ENST00000483681.1	-	9	1328	c.747C>T	c.(745-747)ccC>ccT	p.P249P	DNASE1L3_ENST00000486455.1_Silent_p.P219P|DNASE1L3_ENST00000394549.2_Silent_p.P249P|DNASE1L3_ENST00000318316.3_Silent_p.P249P			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	249					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGTTTGACTTGGGAACAACAG	0.433000													8	50					0	0	1	0	0
LCE1A	353131	broad.mit.edu	37	1	152800278	152800278	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152800278C>T	ENST00000335123.2	+	1	330	c.330C>T	c.(328-330)tgC>tgT	p.C110C		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	110	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGCTGCTGCTGAAGCGGAC	0.617000													3	16					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221604	59221604	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:59221604C>T	ENST00000262717.4	+	12	2480	c.2082C>T	c.(2080-2082)gcC>gcT	p.A694A	CDH20_ENST00000536675.2_Silent_p.A694A|CDH20_ENST00000538374.1_Silent_p.A694A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	694				A -> G (in Ref. 1; AAG23739).	homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGGGGGCCGCCCCCAAGACGC	0.692000													8	54					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91809816	91809816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91809816C>T	ENST00000394232.1	+	7	1483	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	SV2B_ENST00000545111.2_Missense_Mutation_p.S187F|SV2B_ENST00000330276.4_Missense_Mutation_p.S338F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	338					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTCAGGTTTCCAACATCAAA	0.368000													45	150					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730641	27730641	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:27730641G>A	ENST00000264717.2	+	14	1300	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	GCKR_ENST00000424318.2_Missense_Mutation_p.D223N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	413	SIS 2.				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)					TTTCACCCTGGATGGTGAGAG	0.542000													26	34					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56650616	56650616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56650616G>A	ENST00000389934.3	-	24	3674	c.3557C>T	c.(3556-3558)tCt>tTt	p.S1186F	TEX14_ENST00000349033.5_Missense_Mutation_p.S1146F|TEX14_ENST00000240361.8_Missense_Mutation_p.S1192F	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1192						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCTTAAAAGAGCTGTCTGG	0.413000													23	200					0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36552306	36552306	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36552306C>T	ENST00000207457.3	+	5	617	c.488_splice	c.e5-1	p.L164_splice		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	164					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCCCAGCCTCTTGCAGGA	0.582000													5	79					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458341	248458341	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248458341G>A	ENST00000317996.1	-	1	539	c.540C>T	c.(538-540)ccC>ccT	p.P180P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P180P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GCACCAACACGGGGGCCTCGC	0.562000													14	61					0	0	1	0	0
CIB4	130106	broad.mit.edu	37	2	26818096	26818096	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:26818096G>A	ENST00000288861.4	-	4	329	c.276C>T	c.(274-276)ttC>ttT	p.F92F	CIB4_ENST00000405346.3_5'UTR	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	92	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGCTCGCTGAACACAGATG	0.557000													5	51					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964129	209964129	+	Silent	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209964129A>C	ENST00000367021.3	-	7	943	c.771T>G	c.(769-771)ggT>ggG	p.G257G	IRF6_ENST00000542854.1_Silent_p.G162G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	257					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGGCATGGGACCCAGGTCCC	0.562000										HNSCC(57;0.16)			8	44					0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911708	100911708	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:100911708G>A	ENST00000328766.5	-	5	1320	c.867C>T	c.(865-867)tcC>tcT	p.S289S	ARMCX2_ENST00000356824.4_Silent_p.S289S|ARMCX2_ENST00000330154.2_Silent_p.S289S	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	289						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCCATTCCGGGACCTGGTTA	0.592000													14	70					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714791	92714791	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:92714791C>T	ENST00000257068.2	+	2	408	c.402C>T	c.(400-402)atC>atT	p.I134I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	134					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCACTGCCATCGCCATTAACC	0.592000													24	268					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371143	48371143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48371143G>A	ENST00000395702.2	+	2	838	c.611G>A	c.(610-612)tGg>tAg	p.W204*	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Nonsense_Mutation_p.W97*			Q96MN9	ZN488_HUMAN	zinc finger protein 488	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTCGCTTGTTGGGGTCGACTT	0.542000													14	89					0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683580	159683580	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159683580T>A	ENST00000255030.5	-	2	513	c.410A>T	c.(409-411)aAg>aTg	p.K137M	CRP_ENST00000368112.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000437342.1_De_novo_Start_InFrame|CRP_ENST00000368111.1_Intron|CRP_ENST00000368110.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	137	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGACTCTTCCTCACCCT	0.547000													11	254					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159899586	159899586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159899586G>A	ENST00000368094.1	-	17	2365	c.2168C>T	c.(2167-2169)tCg>tTg	p.S723L	IGSF9_ENST00000361509.3_Missense_Mutation_p.S707L|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	723						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGCGTGCGCGAAGGGTAGAC	0.697000													5	9					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37538546	37538546	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:37538546C>T	ENST00000216223.5	-	4	408	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	70					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGTTTGGTTCCACCGCCTTT	0.582000													9	78					0	0	1	0	0
IL3RA	3563	broad.mit.edu	37	X	1501325	1501325	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:1501325G>A	ENST00000331035.4	+	12	1453	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	IL3RA_ENST00000381469.2_Silent_p.L290L	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	368						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AGGAGTGTCTGGTGACTGAAG	0.637000													17	207					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103997	53103997	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:53103997G>A	ENST00000408890.4	+	1	649	c.633G>A	c.(631-633)caG>caA	p.Q211Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	211										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGAACCTGCAGCCCCGGCCCT	0.672000													16	76					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765757	61765757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:61765757C>T	ENST00000423902.2	+	31	6952	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2158					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)			CCAGTCATCTCATCTGCTCAT	0.473000													4	20					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47390724	47390724	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:47390724T>A	ENST00000285039.7	-	28	3929	c.3630A>T	c.(3628-3630)aaA>aaT	p.K1210N	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.K351N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1210					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTCAGCTTTTTGTTCTCTG	0.592000													36	154					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934682	28934682	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:28934682C>T	ENST00000257192.4	+	15	2735	c.2523C>T	c.(2521-2523)taC>taT	p.Y841Y	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.Y200Y|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	841			Y -> F (in dbSNP:rs3752095).		calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCGAGTCTTACACCACCTCTG	0.527000													6	115					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125441663	125441663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:125441663G>A	ENST00000308736.2	-	17	2274	c.2176C>T	c.(2176-2178)Ccg>Tcg	p.P726S	DHX37_ENST00000544745.1_Missense_Mutation_p.P513S	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGGCGTCGGGAAGGGGAAG	0.617000													7	69					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149246955	149246955	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:149246955G>A	ENST00000407073.1	+	12	4052	c.3054_splice	c.e12-1	p.V1019_splice	MBD5_ENST00000404807.1_Splice_Site_p.V1252_splice	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1019						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTTCTTCAAGGTGAGAATGCA	0.388000													5	21					0	0	1	0	0
C22orf15	150248	broad.mit.edu	37	22	24106828	24106828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:24106828G>A	ENST00000402217.3	+	4	506	c.253G>A	c.(253-255)Gga>Aga	p.G85R	C22orf15_ENST00000382821.3_Missense_Mutation_p.G90R|C22orf15_ENST00000305199.5_Silent_p.R86R	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	85										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				TGTCACAGAGGGAGAGGACAT	0.572000													4	41					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654410	150654410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150654410C>T	ENST00000392968.2	-	3	1929	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	KCNH2_ENST00000262186.5_Missense_Mutation_p.R366Q|KCNH2_ENST00000430723.3_Missense_Mutation_p.R366Q			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	366					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATTGTGGGTTCGCTCCTTTAT	0.587000													3	11					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34874044	34874044	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:34874044C>T	ENST00000360581.1	+	6	857	c.729C>T	c.(727-729)acC>acT	p.T243T	NPSR1_ENST00000381539.3_Silent_p.T243T|NPSR1_ENST00000531252.1_Silent_p.T232T|NPSR1_ENST00000381542.1_Silent_p.T177T|NPSR1_ENST00000359791.1_Silent_p.T243T	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	243						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AAAGCAAAACCTACGAAACAG	0.418000													5	17					0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595591	61595591	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:61595591C>T	ENST00000370349.3	+	9	1020	c.816C>T	c.(814-816)ttC>ttT	p.F272F	SLC17A9_ENST00000370351.4_Silent_p.F278F|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	278					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCTGGATCTTCAACGTGGTTC	0.622000													28	298					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103294527	103294527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:103294527C>T	ENST00000370187.3	+	10	1325	c.1207C>T	c.(1207-1209)Cgt>Tgt	p.R403C	BTRC_ENST00000408038.2_Missense_Mutation_p.R367C|BTRC_ENST00000393441.4_Missense_Mutation_p.R362C	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	403					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTCCAAAGATCGTTCCATTGC	0.473000													19	140					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654909	15654909	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:15654909C>T	ENST00000281171.4	+	5	1347	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	PTPRO_ENST00000543886.1_Silent_p.S339S|PTPRO_ENST00000348962.2_Silent_p.S339S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	339	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTTCTCCTTTTTCCCTG	0.428000													3	8					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151107898	151107898	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:151107898C>T	ENST00000474524.1	+	36	5516	c.5478C>T	c.(5476-5478)ttC>ttT	p.F1826F	MED12L_ENST00000273432.4_Silent_p.F1686F	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1826					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCTTTTTCCTTCAGAACC	0.493000													4	58					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103488468	103488468	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103488468G>A	ENST00000358392.2	-	8	1428	c.1111C>T	c.(1111-1113)Cta>Tta	p.L371L	COL11A1_ENST00000353414.4_Silent_p.L320L|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Silent_p.L359L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	359	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCATATAGTGTATCCTCA	0.313000													16	23					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137648659	137648659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137648659C>T	ENST00000371817.3	+	17	2290	c.1876C>T	c.(1876-1878)Ccc>Tcc	p.P626S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	626	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACAAACTGGCCCCAAGGTAGG	0.547000													7	62					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517370	20517370	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20517370G>T	ENST00000375099.3	+	2	400	c.316G>T	c.(316-318)Ggg>Tgg	p.G106W		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	106										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGTACCCACTGGGGCTTCCTC	0.527000													4	60					1	1	1	1	0
S100A8	6279	broad.mit.edu	37	1	153362985	153362985	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153362985C>T	ENST00000368733.3	-	2	196	c.27G>A	c.(25-27)ttG>ttA	p.L9L	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Silent_p.L9L	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	9					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATAGAGTTCAAGGCTTTCT	0.507000													17	193					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339201	19339201	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19339201G>A	ENST00000252575.5	+	8	2815	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	NCAN_ENST00000538881.1_Silent_p.G375G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	924					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GTCCCCTAGGGAAACCGGCTG	0.632000													22	91					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219887962	219887962	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219887962G>A	ENST00000341552.5	-	16	2870	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P	CCDC108_ENST00000453220.1_Silent_p.P929P|CCDC108_ENST00000441968.1_Silent_p.P929P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	929	MSP.					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)		GCCCCCTGGAGGGCTGGACAG	0.602000													10	43					0	0	1	0	0
DRAXIN	374946	broad.mit.edu	37	1	11772432	11772432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:11772432G>A	ENST00000294485.5	+	5	928	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		TGATGGTAACGAAACATCACC	0.567000													12	85					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942907	144942907	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144942907G>A	ENST00000525985.1	-	2	4586	c.4515C>T	c.(4513-4515)gtC>gtT	p.V1505V				P58107	EPIPL_HUMAN	epiplakin 1	1505						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGGTGGTGACTGCGCTGA	0.677000													3	6					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55146142	55146142	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55146142C>T	ENST00000396331.1	+	11	1768	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	LILRB1_ENST00000396321.2_Silent_p.L471L|LILRB1_ENST00000448689.1_Silent_p.L471L|LILRB1_ENST00000396332.4_Silent_p.L471L|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.L455L|LILRB1_ENST00000434867.2_Silent_p.L471L|LILRB1_ENST00000418536.2_Silent_p.L455L|LILRB1_ENST00000396315.1_Silent_p.L472L|LILRB1_ENST00000396327.3_Silent_p.L472L|LILRB1_ENST00000427581.2_Silent_p.L521L|LILRB1_ENST00000324602.7_Silent_p.L472L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	471					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCGTCAtcctactgctcct	0.582000										HNSCC(37;0.09)			5	31					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372707	151372707	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:151372707G>A	ENST00000287878.4	-	4	987	c.483C>T	c.(481-483)tcC>tcT	p.S161S	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000433631.2_Silent_p.S37S|PRKAG2_ENST00000492843.1_Silent_p.S37S|PRKAG2_ENST00000392801.2_Silent_p.S117S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	161					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		TTGACGGAGAGGAGGAGAGGC	0.582000													9	82					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080278	30080278	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30080278A>T	ENST00000376734.3	-	2	430	c.305T>A	c.(304-306)tTc>tAc	p.F102Y	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.F102Y	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	102						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GAAATAGTGGAACATCTCCTG	0.498000													8	101					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003406	57003406	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57003406G>A	ENST00000200676.3	+	3	472	c.342G>A	c.(340-342)ctG>ctA	p.L114L	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.L114L|CETP_ENST00000566128.1_Silent_p.L49L	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	114					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						AGGGGACCCTGAAGTATGGCT	0.582000													8	111					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38317994	38317994	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38317994C>T	ENST00000215957.6	+	6	711	c.585C>T	c.(583-585)tcC>tcT	p.S195S		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	195	LIM zinc-binding.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGCGGTGCTCCAGCACCCTGC	0.677000													5	93					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31510727	31510727	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:31510727G>A	ENST00000327237.2	-	5	535	c.494_splice	c.e5-1	p.L166_splice	C16orf58_ENST00000567994.1_Splice_Site_p.L121_splice|C16orf58_ENST00000570164.1_Splice_Site_p.L166_splice|C16orf58_ENST00000430477.2_Splice_Site_p.L24_splice			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	166						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TCCGCAAAAAGCCTGGGGAGG	0.547000													7	57					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283652	159283652	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:159283652C>T	ENST00000332217.5	-	1	797	c.798G>A	c.(796-798)caG>caA	p.Q266Q		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CCAGGGAACTCTGGGACTTAG	0.527000													4	12					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621460	31621460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:31621460C>T	ENST00000379416.3	-	5	460	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	138					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCTCAATCTCCTCCATGGTG	0.587000													5	87					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66190147	66190147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66190147C>T	ENST00000311034.2	+	4	609	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	145					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTATCTAGATCGCCTCTTCCG	0.552000													5	31					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142001040	142001040	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142001040C>T	ENST00000455382.2	+	0	206																											ACTGTGTCCCCATCTCTAATC	0.438000													4	16					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462752	216462752	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:216462752C>T	ENST00000366943.2	-	11	2227	c.1840_splice	c.e11-1	p.G614_splice	USH2A_ENST00000366942.3_Splice_Site_p.G614_splice|USH2A_ENST00000307340.3_Splice_Site_p.G614_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	614	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTTCCTTCCTGCATCAGG	0.393000										HNSCC(13;0.011)			8	42					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169791884	169791884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:169791884C>T	ENST00000263817.6	-	23	2990	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	956	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AACCGCCTCTCCTTTCCAATT	0.443000													18	63					0	0	1	0	0
OPCML	4978	broad.mit.edu	37	11	132527177	132527177	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:132527177G>A	ENST00000331898.7	-	2	783	c.205C>T	c.(205-207)Cta>Tta	p.L69L	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.L62L|OPCML_ENST00000541867.1_Silent_p.L69L|OPCML_ENST00000374778.4_Silent_p.L28L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	69	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CTGCGGTTTAGCCAGGCCACC	0.537000													6	31					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789330	80789330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80789330C>T	ENST00000269394.3	-	2	1834	c.1001G>A	c.(1000-1002)aGa>aAa	p.R334K	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	334						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTGGGAGTCTGAGACCATA	0.512000													22	195					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6599243	6599243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6599243C>T	ENST00000433363.2	-	7	1090	c.857G>A	c.(856-858)gGc>gAc	p.G286D	SLC13A5_ENST00000381074.4_Missense_Mutation_p.G243D|SLC13A5_ENST00000573648.1_Missense_Mutation_p.G286D|SLC13A5_ENST00000293800.6_Missense_Mutation_p.G269D	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	286						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TAGCCCGCAGCCCCAGGACTT	0.552000													5	88					0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942168	12942168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12942168G>A	ENST00000235349.5	-	3	452	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	128										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGCATTGAGGAAGCACCCA	0.493000													62	175					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746092	110746092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:110746092G>A	ENST00000368919.3	-	8	1784	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	SLC22A16_ENST00000330550.4_Missense_Mutation_p.S539F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	573					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACCAAGACCAGAATCCCTGGG	0.408000													6	76					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466911	164466911	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:164466911G>A	ENST00000333129.3	-	3	1745	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	477						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GTCCTTGGGTGATAATCTCAT	0.522000													6	35					0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900772	28900772	+	RNA	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28900772A>C	ENST00000528584.1	+	0	162					NR_036443.1																						TGGGCTCATCAACAAGTACAT	0.567000													5	66					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47299475	47299475	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:47299475G>A	ENST00000225941.1	+	7	1323	c.825G>A	c.(823-825)ctG>ctA	p.L275L	ABI3_ENST00000419580.2_Silent_p.L269L	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	275	Pro-rich.				cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCTGCCACTGGACCTGCCTC	0.602000										HNSCC(55;0.14)			11	96					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23999037	23999037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23999037C>T	ENST00000546136.1	-	2	324	c.322G>A	c.(322-324)Ggc>Agc	p.G108S	SOX5_ENST00000309359.1_Missense_Mutation_p.G108S|SOX5_ENST00000541536.1_Missense_Mutation_p.G108S|SOX5_ENST00000441133.2_Missense_Mutation_p.G86S|SOX5_ENST00000537393.1_Missense_Mutation_p.G86S|SOX5_ENST00000545921.1_Missense_Mutation_p.G111S|SOX5_ENST00000451604.2_Missense_Mutation_p.G121S|SOX5_ENST00000541847.1_Missense_Mutation_p.G111S|SOX5_ENST00000381381.2_Missense_Mutation_p.G108S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	121					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGGACTCGCCACTCTGTCGC	0.493000													5	22					0	0	1	0	0
CALB1	793	broad.mit.edu	37	8	91072412	91072412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:91072412C>T	ENST00000265431.3	-	11	956	c.775G>A	c.(775-777)Ggg>Agg	p.G259R	CALB1_ENST00000518457.1_Missense_Mutation_p.G202R	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	259						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAGTTATCCCCAGCACAGAGA	0.393000													6	24					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278983	47278983	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47278983G>A	ENST00000542575.2	-	8	2038	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	SLC1A5_ENST00000412532.2_Silent_p.L242L|SLC1A5_ENST00000594991.1_Silent_p.L294L|SLC1A5_ENST00000434726.2_Silent_p.L268L|FKRP_ENST00000600646.1_Intron	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	470					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTCTACATTGAGGACGGTAC	0.552000													8	57					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046887	32046887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32046887C>T	ENST00000375244.3	-	11	4499	c.4298G>A	c.(4297-4299)gGg>gAg	p.G1433E	TNXB_ENST00000375247.2_Missense_Mutation_p.G1433E			P22105	TENX_HUMAN	tenascin XB	1520					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						GTACTTGTGCCCGGGCTCTAG	0.687000													37	197					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349074	100349074	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100349074G>A	ENST00000437033.2	-	5	923	c.420C>T	c.(418-420)ttC>ttT	p.F140F	ADH7_ENST00000476959.1_Silent_p.F160F|ADH7_ENST00000482593.1_Silent_p.F83F|ADH7_ENST00000209665.4_Silent_p.F152F			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	152					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGGTGTTCATGAAGTGGTGGA	0.433000													3	12					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52390704	52390704	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52390704C>T	ENST00000420323.2	+	22	4029	c.3768C>T	c.(3766-3768)atC>atT	p.I1256I		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1256	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGGACATCAACCAGCAGC	0.592000													4	36					0	0	1	0	0
FUT1	2523	broad.mit.edu	37	19	49254491	49254491	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49254491G>A	ENST00000310160.3	-	4	1022	c.48C>T	c.(46-48)gtC>gtT	p.V16V		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	16					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGAGGACACAGACTAGCAGGA	0.572000													5	39					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590499	140590499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140590499C>T	ENST00000239450.2	+	1	2209	c.2020C>T	c.(2020-2022)Ccg>Tcg	p.P674S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P337S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		674					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCTCTCCCGGAGGCGGC	0.692000													17	70					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70330370	70330370	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:70330370T>C	ENST00000374202.2	-	3	529	c.438A>G	c.(436-438)ctA>ctG	p.L146L	IL2RG_ENST00000456850.2_Intron	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	146					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCTGCAGTTTTAGCATCTGTG	0.468000									Severe Combined Immunodeficiency, X-linked				5	48					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901637	2901637	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:2901637C>T	ENST00000254695.8	+	14	1257	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	RAP1GAP2_ENST00000540393.2_Silent_p.V370V|RAP1GAP2_ENST00000542807.1_Silent_p.V389V|RAP1GAP2_ENST00000366401.4_Silent_p.V374V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	389	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCGTGCAGGTCGAGACCCCAG	0.537000													10	59					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748898	126748898	+	Silent	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:126748898G>C	ENST00000251772.4	+	27	5052	c.4983G>C	c.(4981-4983)ctG>ctC	p.L1661L	PLXNA1_ENST00000393409.2_Silent_p.L1684L			Q9UIW2	PLXA1_HUMAN	plexin A1	1684					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACGGCTACTGGCCACCAAGG	0.637000													5	51					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122396	46122396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:46122396G>A	ENST00000374366.3	-	8	1118	c.653C>T	c.(652-654)tCc>tTc	p.S218F	ZFAND4_ENST00000344646.5_Missense_Mutation_p.S292F|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	292							zinc ion binding										TCCATTCCTGGAGATTTCGGG	0.448000													8	46					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814058	137814058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:137814058C>T	ENST00000409968.1	+	3	386	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.H39Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.H70Y					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)		GTGGTGTTTTCATGTTGACGG	0.512000													7	26					0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35761365	35761365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35761365C>T	ENST00000222305.3	+	5	482	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	USF2_ENST00000595068.1_Missense_Mutation_p.P149S|USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.P82S|USF2_ENST00000594064.1_Missense_Mutation_p.P147S	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	149					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GATCCAAAATCCCTTCAGCAA	0.587000													7	63					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622144	64622144	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64622144G>A	ENST00000320631.3	-	5	1520	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.F422F	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	422					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AGCCGTGCCCGAACGGCCCGT	0.662000													9	133					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101804381	101804381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:101804381G>A	ENST00000375001.3	+	24	2989	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	856	Triple-helical region 4 (COL4).				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)				AGGACTAAAAGGAGAACAGGT	0.418000													4	57					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379274	23379274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:23379274G>A	ENST00000343070.2	+	5	1050	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	SCNN1B_ENST00000307331.5_Missense_Mutation_p.E337K|SCNN1B_ENST00000568923.1_Missense_Mutation_p.E265K|SCNN1B_ENST00000568085.1_Missense_Mutation_p.E292K	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	292					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTGGAACTGAATTCGGTGA	0.517000													7	94					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43854021	43854021	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43854021A>C	ENST00000372457.4	-	2	128	c.85T>G	c.(85-87)Ttc>Gtc	p.F29V	MED8_ENST00000372455.4_5'UTR|MED8_ENST00000290663.6_Missense_Mutation_p.F29V|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	29					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGCAAATGAAACTCCCCAGA	0.527000													6	55					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298431	36298431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:36298431C>T	ENST00000437635.2	-	2	214	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	13										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCTTTCTTCTCCGCCAGGGGC	0.567000													4	67					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482133	54482133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:54482133C>T	ENST00000317802.7	-	1	1276	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	386					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTATGGGCGTCTTCACCCAAC	0.517000													5	69					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24187543G>A	ENST00000265769.4	+	11	1128	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.E107K|ADAM28_ENST00000397649.3_Missense_Mutation_p.E87K|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E340K|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	340	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGCACATGAAATGGGCCA	0.408000													4	21					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381988	57381988	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57381988C>T	ENST00000403558.1	+	7	1932	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	SERPING1_ENST00000378323.4_Silent_p.F484F|SERPING1_ENST00000378324.2_Silent_p.F427F|SERPING1_ENST00000340687.6_Silent_p.F442F|SERPING1_ENST00000278407.4_Silent_p.F479F	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	479					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTCCTCTTCGTGCTCTGGG	0.617000													8	41					0	0	1	0	0
MCM4	4173	broad.mit.edu	37	8	48887387	48887387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:48887387C>T	ENST00000262105.2	+	14	2439	c.2230C>T	c.(2230-2232)Cat>Tat	p.H744Y	MCM4_ENST00000523944.1_Missense_Mutation_p.H744Y	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	744					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGCAGAAGCCCATGCTAAAGT	0.483000													21	151					0	0	1	0	0
CPVL	54504	broad.mit.edu	37	7	29135775	29135775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:29135775G>A	ENST00000409850.1	-	8	993	c.347C>T	c.(346-348)tCc>tTc	p.S116F	CPVL_ENST00000265394.5_Missense_Mutation_p.S116F|CPVL_ENST00000396276.3_Missense_Mutation_p.S116F|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	116					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCCAAACATGGATGAACCTCC	0.463000													8	108					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30745866	30745866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30745866C>T	ENST00000262518.4	+	31	7044	c.6659C>T	c.(6658-6660)tCa>tTa	p.S2220L	SRCAP_ENST00000395059.2_Missense_Mutation_p.S2158L|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2062L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2220					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCTTCTAGCTCATCCGTGCCC	0.498000													13	134					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45681903	45681903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45681903C>T	ENST00000216211.4	+	2	166	c.134C>T	c.(133-135)cCt>cTt	p.P45L	UPK3A_ENST00000396082.2_Missense_Mutation_p.P45L	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	45					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTGGAAAAGCCTCTCTGCATG	0.572000													6	53					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60901999	60901999	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60901999G>A	ENST00000252999.3	-	39	5202	c.5136C>T	c.(5134-5136)ctC>ctT	p.L1712L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1712	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCATAACGGAGGGTCCCAC	0.612000													11	96					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229874	39229874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229874C>T	ENST00000340369.3	-	2	1291	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	XIRP1_ENST00000396251.1_Missense_Mutation_p.D355N|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	355							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTCAGAGTGTCCAGCGCTCGG	0.567000													7	124					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56552295	56552295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56552295G>A	ENST00000390649.3	+	11	2794	c.2794G>A	c.(2794-2796)Gac>Aac	p.D932N		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	932						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGACTGGAGGACTGTGGCAT	0.547000													5	30					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18321934	18321934	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18321934G>A	ENST00000355502.3	-	19	2815	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	PDE4C_ENST00000594465.2_Silent_p.P648P|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Silent_p.P648P|PDE4C_ENST00000447275.2_Silent_p.P542P|PDE4C_ENST00000262805.11_Silent_p.P616P|PDE4C_ENST00000539010.1_Silent_p.P417P			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	648					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.P648P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CGTCCCGCTCGGGGTTGGTGA	0.582000													11	99					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115558	68115558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68115558G>A	ENST00000294304.7	+	2	441	c.335G>A	c.(334-336)gGc>gAc	p.G112D		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	112	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCCGACGGCCTCGCCTGC	0.637000													20	100					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619441	17619441	+	Splice_Site	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17619441C>A	ENST00000336737.4	-	7	959	c.935_splice	c.e7+1	p.G312_splice	CECR5_ENST00000155674.5_Splice_Site_p.G282_splice|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	312							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				AGAGCCTACCCCACAGCATAG	0.572000													6	165					1	1	1	1	0
CPEB2	132864	broad.mit.edu	37	4	15060078	15060078	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15060078C>T	ENST00000538197.1	+	9	2495	c.2495C>T	c.(2494-2496)tCa>tTa	p.S832L	RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.S357L|CPEB2_ENST00000259997.5_Missense_Mutation_p.S395L|CPEB2_ENST00000382395.3_Missense_Mutation_p.S365L|CPEB2_ENST00000382401.3_Missense_Mutation_p.S360L|CPEB2_ENST00000442003.2_Missense_Mutation_p.S805L|CPEB2_ENST00000507071.1_Missense_Mutation_p.S387L|CPEB2_ENST00000541112.1_Missense_Mutation_p.S824L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	387					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAAGAGAGCTCAGTTCAGGCA	0.378000													4	16					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416787	82416787	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:82416787G>A	ENST00000370728.1	+	10	2223	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	LPHN2_ENST00000370723.1_Silent_p.V526V|LPHN2_ENST00000370715.1_Silent_p.V526V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Silent_p.V526V|LPHN2_ENST00000370717.2_Silent_p.V526V|LPHN2_ENST00000370725.1_Silent_p.V526V|LPHN2_ENST00000271029.4_Silent_p.V526V|LPHN2_ENST00000370730.1_Silent_p.V526V|LPHN2_ENST00000359929.3_Silent_p.V526V|LPHN2_ENST00000370727.1_Silent_p.V526V|LPHN2_ENST00000335786.5_Silent_p.V526V|LPHN2_ENST00000370721.1_Silent_p.V464V|LPHN2_ENST00000319517.6_Silent_p.V526V|LPHN2_ENST00000394879.1_Silent_p.V526V			O95490	LPHN2_HUMAN	latrophilin 2	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACACTGGGTGAATCAGCTGG	0.418000													3	18					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202163309	202163309	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202163309G>A	ENST00000367278.3	+	1	281	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	64	LRRNT.					integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CGGGGGACCTGGACCCCCTGA	0.726000													7	42					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150303	34150303	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:34150303C>T	ENST00000346193.3	-	1	144	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTGCACTTCGCGAAGCACT	0.617000													10	24					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191958	44191958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:44191958C>T	ENST00000403799.3	-	3	744	c.275G>A	c.(274-276)gGa>gAa	p.G92E	GCK_ENST00000395796.3_Missense_Mutation_p.G91E|GCK_ENST00000345378.2_Missense_Mutation_p.G93E|GCK_ENST00000437084.1_Missense_Mutation_p.G92E	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	92					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCACCTTCTCCCACCTTCAC	0.587000													33	549					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347282	222347282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:222347282C>T	ENST00000281821.2	-	5	1149	c.1108G>A	c.(1108-1110)Gga>Aga	p.G370R	EPHA4_ENST00000409854.1_Missense_Mutation_p.G370R|EPHA4_ENST00000392071.4_Missense_Mutation_p.G319R|EPHA4_ENST00000409938.1_Missense_Mutation_p.G370R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	370	Fibronectin type-III 1.		G -> E (in a bladder carcinoma NOS sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCACCAGCTCCACATTTCTTG	0.512000													19	73					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24507679	24507679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:24507679G>A	ENST00000355123.4	-	17	2340	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	ITSN2_ENST00000361999.3_Intron|ITSN2_ENST00000406921.3_Missense_Mutation_p.L633F	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	633					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGACAAAAGGCACTGAAGA	0.313000													4	48					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22974328	22974328	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:22974328G>A	ENST00000356864.3	+	5	1096	c.564G>A	c.(562-564)ggG>ggA	p.G188G	TNFRSF10C_ENST00000540813.1_Silent_p.G86G	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	188					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCAGCCCGGGGACTCCTGCCC	0.627000													9	80					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44514923	44514923	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:44514923C>T	ENST00000338758.6	+	4	342	c.279C>T	c.(277-279)ctC>ctT	p.L93L	PARVB_ENST00000404989.1_Silent_p.L56L|PARVB_ENST00000406477.3_Silent_p.L126L|PARVB_ENST00000402876.3_Silent_p.L93L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	93	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGGTCCTCCTCGACTGGA	0.572000													7	108					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64275842	64275842	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:64275842C>T	ENST00000261891.3	-	2	209	c.204G>A	c.(202-204)cgG>cgA	p.R68R	DAPK2_ENST00000457488.1_Silent_p.R68R|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R68R			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	68	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CGATCTCCTCCCGGCTCACAC	0.627000													18	51					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75182875	75182875	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:75182875G>A	ENST00000336926.6	-	22	2198	c.2172C>T	c.(2170-2172)gcC>gcT	p.A724A	HIP1_ENST00000434438.2_Silent_p.A724A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	724					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACTGCTTACAGGCCTCGGTCA	0.562000			T	PDGFRB	CMML								9	36					0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969283	118969283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118969283C>T	ENST00000334549.1	+	3	628	c.628C>T	c.(628-630)Cca>Tca	p.P210S		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	210						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)		TGAAGAGCTTCCAGGCCCCAA	0.532000													4	59					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112741	39112741	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:39112741C>T	ENST00000216044.5	+	4	803	c.570C>T	c.(568-570)ggC>ggT	p.G190G		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	190					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ATGGCCGAGGCTTTGCCCGCC	0.557000													14	37					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26446172	26446172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:26446172C>T	ENST00000244519.2	+	5	917	c.674C>T	c.(673-675)tCc>tTc	p.S225F	BTN3A3_ENST00000361232.3_Missense_Mutation_p.S183F|BTN3A3_ENST00000339789.4_Missense_Mutation_p.S183F	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	225	Ig-like V-type 2.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATCAGAAATTCCCTCCTCGGC	0.557000													10	98					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102500716	102500716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102500716C>T	ENST00000360184.4	+	56	10845	c.10681C>T	c.(10681-10683)Cgc>Tgc	p.R3561C	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3561	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAGCGTCTTCGCTGGCAGGC	0.517000													7	61					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623378	74623378	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:74623378C>A	ENST00000321288.5	+	16	2211	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A	CCDC33_ENST00000268082.4_Silent_p.A127A|CCDC33_ENST00000398814.3_Silent_p.A534A|CCDC33_ENST00000558821.1_Silent_p.A127A			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	737							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCCACAGGCCGCTCTGCTGA	0.612000													4	24					0.150653	0.151545	1	1	0
JAK3	3718	broad.mit.edu	37	19	17942510	17942510	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17942510G>A	ENST00000458235.1	-	20	2877	c.2778C>T	c.(2776-2778)ctC>ctT	p.L926L	JAK3_ENST00000527670.1_Silent_p.L926L|JAK3_ENST00000534444.1_Silent_p.L926L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	926	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AATAGAGAAGGAGGCGGCTGG	0.697000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	21					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398260	102398260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:102398260C>T	ENST00000260227.4	-	3	531	c.479G>A	c.(478-480)cGa>cAa	p.R160Q		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	160					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R160Q(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		CTTACCTCCTCGCGCAAAGCC	0.408000													5	83					0	0	1	0	0
XPNPEP1	7511	broad.mit.edu	37	10	111631567	111631567	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:111631567A>T	ENST00000369680.4	-	17	1624	c.1376T>A	c.(1375-1377)tTc>tAc	p.F459Y	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.F478Y|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.F388Y|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.F502Y	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	459					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCAGTCGGGAAAACGGCTGC	0.458000													6	85					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40776925	40776925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:40776925G>A	ENST00000372748.3	-	11	649	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	185	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGCCCTGGGGGACCTTTCATT	0.597000													7	10					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45785615	45785615	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45785615A>G	ENST00000357450.4	-	10	1707	c.1708T>C	c.(1708-1710)Ttc>Ctc	p.F570L	SMC1B_ENST00000404354.3_Missense_Mutation_p.F570L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	570	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGAGCGAGGAATGTCTCAGGT	0.373000													12	50					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056392	180056392	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:180056392G>A	ENST00000261937.6	-	7	930	c.852C>T	c.(850-852)tcC>tcT	p.S284S	FLT4_ENST00000502649.1_Silent_p.S284S|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.S284S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	284	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGTCTGCTGGGAGCGTCGCT	0.662000													4	66					0	0	1	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:71238544C>T	ENST00000398536.4	+	1	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	66	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G66G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652000													11	180					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56223854	56223854	+	Silent	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:56223854T>A	ENST00000332836.2	-	7	2631	c.2604A>T	c.(2602-2604)atA>atT	p.I868I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	868						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)		CAGTGTCTCCTATTTCATTAT	0.438000													4	36					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728538	50728538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50728538G>A	ENST00000449103.1	-	3	616	c.476C>T	c.(475-477)tCc>tTc	p.S159F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S159F			O15031	PLXB2_HUMAN	plexin B2	159	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGACCCGTGGAGCTCACCAG	0.622000													4	22					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030767	3030767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3030767G>A	ENST00000328890.2	-	1	108	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GACCCAAAGAGGGGCTTCTGC	0.498000													5	35					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535853	90535853	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:90535853C>T	ENST00000602681.1	+	0	1757																											CCCTTTATTTCATCCACACCC	0.567000													13	195					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15829336	15829336	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:15829336C>T	ENST00000338282.6	-	26	3499	c.3393G>A	c.(3391-3393)cgG>cgA	p.R1131R	MYH11_ENST00000576790.1_Silent_p.R1131R|MYH11_ENST00000452625.2_Silent_p.R1138R|MYH11_ENST00000396324.3_Silent_p.R1138R|MYH11_ENST00000300036.5_Silent_p.R1131R	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1131					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						TCCTGGCGGCCCGCTCTGAGT	0.587000			T	CBFB	AML								15	126					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41244925	41244925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:41244925G>A	ENST00000309486.4	-	9	2762	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P875S|BRCA1_ENST00000471181.2_Missense_Mutation_p.P875S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.P875S|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P828S|BRCA1_ENST00000346315.3_Missense_Mutation_p.P875S	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	875					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCATTTCCTGGATTTGAAAAC	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	46					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113326337	113326337	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:113326337C>T	ENST00000263331.5	+	12	2512	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	POLR1B_ENST00000409894.3_Silent_p.V461V|POLR1B_ENST00000417433.2_Silent_p.V588V|POLR1B_ENST00000541869.1_Silent_p.V682V|POLR1B_ENST00000537335.1_Silent_p.V433V	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	644					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCATGAATGTCGCTATCTTTG	0.433000													6	58					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272366	158272366	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:158272366C>T	ENST00000264192.3	-	8	1024	c.903G>A	c.(901-903)agG>agA	p.R301R	CYTIP_ENST00000540637.1_Silent_p.R195R	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	301	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGCTCCGGTTCCTCCTTGAAG	0.547000													5	36					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146351	10146351	+	Silent	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:10146351G>T	ENST00000450660.2	-	2	324	c.108C>A	c.(106-108)tcC>tcA	p.S36S	FANCD2OS_ENST00000524279.1_Silent_p.S36S	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GGAAGCAGGGGGAGGCCTTGA	0.562000													5	77					4.096e-09	4.16422e-09	1	1	0
NEB	4703	broad.mit.edu	37	2	152484282	152484282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:152484282C>T	ENST00000397345.3	-	69	10100	c.9898G>A	c.(9898-9900)Gac>Aac	p.D3300N	NEB_ENST00000604864.1_Missense_Mutation_p.D3300N|NEB_ENST00000409198.1_Missense_Mutation_p.D3057N|NEB_ENST00000603639.1_Missense_Mutation_p.D3300N|NEB_ENST00000427231.2_Missense_Mutation_p.D3300N|NEB_ENST00000172853.10_Missense_Mutation_p.D3057N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3300					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTGGGGTCATCTTCAATG	0.453000													25	114					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78938108	78938108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78938108C>T	ENST00000306801.3	+	34	4348	c.3986C>T	c.(3985-3987)tCg>tTg	p.S1329L	RPTOR_ENST00000544334.2_Missense_Mutation_p.S1171L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1329					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCGTGTACTCGGTGGAGAAG	0.652000													10	83					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51040272	51040272	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:51040272C>T	ENST00000329492.3	+	2	237	c.120C>T	c.(118-120)atC>atT	p.I40I	MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_Silent_p.I40I|MAPK8IP2_ENST00000341339.4_Silent_p.I40I	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	40					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCTGAGATCACTGATGACT	0.562000													9	78					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768968	88768968	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88768968C>T	ENST00000444431.1	+	0	3568				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAAGCAAGTCCCAGCTGACC	0.577000													17	148					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180153184	180153184	+	Splice_Site	SNP	C	C	T	rs146785605	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180153184C>T	ENST00000367602.3	+	7	960	c.887_splice	c.e7+1	p.R296_splice	QSOX1_ENST00000367600.5_Splice_Site_p.R296_splice			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	296					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTGGCAGATCGGTAAGGCTA	0.542000													23	102					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117808906	117808906	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:117808906G>A	ENST00000350763.4	-	17	5319	c.4908C>T	c.(4906-4908)ttC>ttT	p.F1636F	TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Silent_p.F1272F|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Silent_p.F1090F|TNC_ENST00000341037.4_Silent_p.F1454F|TNC_ENST00000542877.1_Silent_p.F1273F|TNC_ENST00000535648.1_Silent_p.F1181F|TNC_ENST00000537320.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1636	Fibronectin type-III 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGGACAGACGGAAACCGTCTG	0.478000													3	18					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616487	22616487	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:22616487G>A	ENST00000390457.2	+	0	325																											TGAAGAAGCTGAAGAGACTAA	0.512000													5	15					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80021296	80021296	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:80021296C>T	ENST00000265081.6	+	9	1445	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	455					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAATTCGAGTCGAAAGGATGG	0.343000								Mismatch excision repair (MMR)					4	29					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614387	47614387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:47614387G>A	ENST00000371891.3	+	12	1509	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R395Q	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	493						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCATGGCACGACTTGTGTTG	0.562000													20	68					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31690883	31690883	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:31690883G>A	ENST00000319386.3	+	12	3260	c.2267_splice	c.e12+1	p.R756_splice	CCDC129_ENST00000409210.1_Splice_Site_p.R812_splice|CCDC129_ENST00000451887.2_Splice_Site_p.R930_splice|CCDC129_ENST00000407970.3_Splice_Site_p.R904_splice			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	904										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGGAGGAAAGGTAATTACCT	0.483000													3	18					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87746591	87746591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:87746591C>T	ENST00000273905.6	-	5	1048	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	301						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATAAGAAATCCATCTATCAGC	0.443000													4	37					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62191963	62191963	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62191963G>A	ENST00000467148.1	-	16	7438	c.7369C>T	c.(7369-7371)Ctg>Ttg	p.L2457L	HELZ2_ENST00000427522.2_Silent_p.L1888L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCGTGGCCCAGGACACTGGGC	0.632000													14	76					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27435652	27435652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27435652G>A	ENST00000211936.6	-	3	339	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	ZNF184_ENST00000377419.1_Missense_Mutation_p.L19F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GCTGATGAGAGTAGATTATGT	0.413000													12	32					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16358425	16358425	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:16358425C>T	ENST00000334133.4	-	10	1919	c.1647G>A	c.(1645-1647)ggG>ggA	p.G549G	OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000432519.1_Silent_p.G513G|OXNAD1_ENST00000435829.2_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	549						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CAGTGCAAATCCCCACCAGGG	0.607000													12	122					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10929932	10929932	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:10929932G>A	ENST00000404371.2	-	10	1276	c.939C>T	c.(937-939)atC>atT	p.I313I	PDIA6_ENST00000272227.3_Silent_p.I261I|PDIA6_ENST00000540494.1_Silent_p.I258I|PDIA6_ENST00000381611.4_Silent_p.I266I|PDIA6_ENST00000404824.2_Silent_p.I309I			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	261					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CCCGGGACACGATGTCGGATC	0.453000													8	67					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666899	167666899	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167666899G>A	ENST00000367854.3	+	6	1369	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	RCSD1_ENST00000537350.1_Silent_p.K316K	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	346										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTGCAGTGAAGGAGACCCCCC	0.572000													3	20					0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010527	63010527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:63010527C>T	ENST00000439174.2	-	4	1227	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	GNA13_ENST00000541118.1_Missense_Mutation_p.E233K	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	328					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.E328Q(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CGGAAACATTCCACCAGGAAT	0.478000													7	59					0	0	1	0	0
C10orf10	11067	broad.mit.edu	37	10	45473456	45473456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:45473456G>A	ENST00000298295.3	-	2	240	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	8						mitochondrion				lung(1)	1						ATGGGCCACGGAGAGCAGAAG	0.642000													12	81					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621191	38621191	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:38621191C>T	ENST00000222345.6	+	10	3431	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	974	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGAACGGGCTCGGGCAGCTGG	0.667000													7	82					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44467119	44467119	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:44467119G>A	ENST00000372310.3	-	9	1308	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S	SLC6A9_ENST00000475075.2_Silent_p.S270S|SLC6A9_ENST00000372307.3_Silent_p.S316S|SLC6A9_ENST00000360584.2_Silent_p.S454S|SLC6A9_ENST00000537678.1_Silent_p.S316S|SLC6A9_ENST00000372306.3_Silent_p.S381S|SLC6A9_ENST00000357730.2_Silent_p.S400S	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	454						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCACAGCGGGGAGATGGGAA	0.637000													14	49					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89503276	89503276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:89503276G>A	ENST00000361175.4	+	10	1723	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	PAPSS2_ENST00000427144.2_Missense_Mutation_p.D456N|PAPSS2_ENST00000456849.1_Missense_Mutation_p.D457N	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAAGGATGACGATGTGCCTCT	0.602000													4	36					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7251514	7251514	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:7251514G>A	ENST00000158762.3	+	16	1688	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	494	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CCATGGCAGTGAAGAAACCAG	0.607000													4	11					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156924097	156924097	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:156924097G>A	ENST00000257527.4	-	14	1477	c.1398_splice	c.e14-1	p.L467_splice	ADAM19_ENST00000517905.1_Splice_Site_p.L467_splice|ADAM19_ENST00000394020.1_Splice_Site_p.L469_splice|ADAM19_ENST00000430702.2_Splice_Site_p.L200_splice	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	467	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAGCCAACAGCTGAGCCAAG	0.557000													4	18					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22850879	22850879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22850879C>T	ENST00000404138.1	+	18	3978	c.3467C>T	c.(3466-3468)tCt>tTt	p.S1156F	ZBTB40_ENST00000374651.4_Missense_Mutation_p.S1044F|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S1156F	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1156					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CACCTGGAATCTGAGCACCCA	0.567000													11	34					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356846	42356846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:42356846G>A	ENST00000554171.1	+	5	3450	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	LRFN5_ENST00000554120.1_Missense_Mutation_p.G340R|LRFN5_ENST00000298119.4_Missense_Mutation_p.G340R			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	340	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTATGATAACGGAACACTTGA	0.448000										HNSCC(30;0.082)			5	45					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17880975	17880975	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:17880975C>T	ENST00000313838.8	+	4	442	c.63C>T	c.(61-63)gcC>gcT	p.A21A	LRRC48_ENST00000584166.1_Silent_p.A21A|LRRC48_ENST00000399182.1_Silent_p.A21A|LRRC48_ENST00000399187.1_Silent_p.A21A|LRRC48_ENST00000411504.2_Silent_p.A21A	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	21						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAAGCTGGCCGTCGGGGACC	0.602000													7	31					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102605695	102605695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102605695G>A	ENST00000334701.7	-	1	328	c.47C>T	c.(46-48)tCc>tTc	p.S16F	HSP90AA1_ENST00000558600.1_5'UTR	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	0					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GTCCCGAAGGGAGGGCCCAGG	0.726000													4	30					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10778311	10778311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:10778311C>T	ENST00000361367.2	+	5	944	c.518C>T	c.(517-519)tCc>tTc	p.S173F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	173					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCTTGCATTTCCTTCAACAAG	0.318000													9	67					0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78560802	78560802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:78560802C>T	ENST00000370759.3	+	3	786	c.593C>T	c.(592-594)cCt>cTt	p.P198L		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	198						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTAATAGAACCTAAGAAGGCA	0.383000													5	44					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281938	152281938	+	Silent	SNP	C	C	T	rs142906121		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152281938C>T	ENST00000368799.1	-	3	5459	c.5424G>A	c.(5422-5424)gaG>gaA	p.E1808E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1808	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGACCCTCTTGGGACG	0.602000									Ichthyosis				34	394					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344697	50344697	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50344697C>T	ENST00000199280.3	+	1	169	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	28			L -> P (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TCTTTGGCCTCGGCTCTGCCC	0.617000													5	64					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650688	75650688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:75650688C>T	ENST00000361470.2	+	1	2643	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	789	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.R789C(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCTGAATCGTGCTGCCCG	0.473000													12	34					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123235	81123235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:81123235G>A	ENST00000339711.4	+	10	1850	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	PRDM8_ENST00000415738.2_Missense_Mutation_p.G207S|PRDM8_ENST00000504452.1_Missense_Mutation_p.G207S	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gggcggcggcggcggtggcaa	0.652000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60885712	60885712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60885712G>A	ENST00000347785.3	+	3	326	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	54	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTACCTCAAGGACGGATGGCA	0.617000													9	128					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219604796	219604796	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219604796C>T	ENST00000392102.1	+	4	1843	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	TTLL4_ENST00000457313.1_Silent_p.L336L|TTLL4_ENST00000442769.1_Silent_p.L501L|TTLL4_ENST00000258398.4_Silent_p.L501L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	501					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTACTGACCTCCAGCCAGATC	0.458000													6	41					0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150033974	150033974	+	Silent	SNP	G	G	A	rs138665596	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:150033974G>A	ENST00000359623.4	+	3	612	c.24G>A	c.(22-24)ccG>ccA	p.P8P	LRRC61_ENST00000493307.1_Silent_p.P8P|LRRC61_ENST00000323078.7_Silent_p.P8P	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	8										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGAGAAGCCGGGAGAGGCTG	0.637000													4	61					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34698082	34698082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:34698082G>A	ENST00000360581.1	+	1	186	c.58G>A	c.(58-60)Gat>Aat	p.D20N	NPSR1_ENST00000381539.3_Missense_Mutation_p.D20N|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.D20N|NPSR1_ENST00000381553.3_Missense_Mutation_p.D20N|NPSR1_ENST00000381542.1_Missense_Mutation_p.D20N|NPSR1_ENST00000465305.1_Missense_Mutation_p.D20N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D20N|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	20						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GCAGACGCTGGATTCTTCCCC	0.532000													7	50					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39643308	39643308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39643308C>T	ENST00000393986.2	-	7	1164	c.952G>A	c.(952-954)Gac>Aac	p.D318N	KRT36_ENST00000328119.6_Missense_Mutation_p.D368N			O76013	KRT36_HUMAN	keratin 36	368	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CGCTCCAGGTCGCAGCGGATC	0.647000													6	111					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249077	102249077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102249077G>A	ENST00000370345.3	-	23	3200	c.3103C>T	c.(3103-3105)Ccc>Tcc	p.P1035S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1035	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GGCTGTGAGGGAAGAATCCCT	0.542000													6	44					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991122	47991122	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:47991122C>T	ENST00000371741.4	-	2	1141	c.975G>A	c.(973-975)cgG>cgA	p.R325R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	325					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)			TGTAGCTCCTCCGCAAAGTGA	0.542000													4	28					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31376724	31376724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31376724C>T	ENST00000328111.2	+	7	1040	c.719C>T	c.(718-720)cCc>cTc	p.P240L	DNMT3B_ENST00000375623.4_Missense_Mutation_p.P198L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P198L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P252L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P240L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P164L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P240L|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P240L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	240	Interaction with DNMT1 and DNMT3A.|PWWP.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGTGGCCCGCCATGGTG	0.567000													16	63					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31873905	31873905	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31873905T>C	ENST00000253354.1	+	2	187	c.26T>C	c.(25-27)cTt>cCt	p.L9P		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	9						extracellular space	lipid binding										ACCTTCACCCTTCTCTGTGGT	0.577000													8	81					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063426	194063426	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:194063426G>A	ENST00000323830.3	-	2	95	c.6C>T	c.(4-6)ctC>ctT	p.L2L	CPN2_ENST00000429275.1_Silent_p.L2L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	2					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGCTCCAGGGAGCATCTTCT	0.587000													6	47					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75283383	75283383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75283383G>A	ENST00000339859.4	-	16	2420	c.2320C>T	c.(2320-2322)Cat>Tat	p.H774Y	USP54_ENST00000422491.2_5'UTR|USP54_ENST00000408019.1_Missense_Mutation_p.H774Y|USP54_ENST00000428547.1_Missense_Mutation_p.H624Y|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	774					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CGGCTAGGATGAGGGTTAAAC	0.498000													19	183					0	0	1	0	0
OR4D1	26689	broad.mit.edu	37	17	56232607	56232607	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56232607C>T	ENST00000268912.5	+	1	114	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TCCTTCTGTTCCTGTTAGTCT	0.458000													24	130					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237730007	237730007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:237730007C>T	ENST00000366574.2	+	28	3672	c.3355C>T	c.(3355-3357)Cgt>Tgt	p.R1119C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1117C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1103C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1119	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTTGGAGTCGTCCTGGTTG	0.532000													7	109					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167865909	167865909	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:167865909G>A	ENST00000367848.1	-	7	884	c.387C>T	c.(385-387)ccC>ccT	p.P129P	ADCY10_ENST00000367851.4_Silent_p.P221P|ADCY10_ENST00000545172.1_Silent_p.P68P			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	221	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAAAATTGGGGGGTGGTTTTA	0.328000													29	142					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599583	15599583	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:15599583T>G	ENST00000400577.3	+	5	824	c.815T>G	c.(814-816)tTc>tGc	p.F272C	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	272							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		AGCCAAAAGTTCCGAAAGTCT	0.343000													3	26					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230373	21230373	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21230373G>A	ENST00000233242.1	-	26	9494	c.9367C>T	c.(9367-9369)Ctg>Ttg	p.L3123L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3123					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGAAATCCAGATTTGCTTCT	0.368000													14	248					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15493157	15493157	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:15493157G>A	ENST00000383788.5	-	17	1487	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	COLQ_ENST00000603808.1_Silent_p.F455F|COLQ_ENST00000383786.5_Silent_p.F420F|COLQ_ENST00000383781.4_Silent_p.F444F|COLQ_ENST00000383785.2_3'UTR|COLQ_ENST00000383787.2_Silent_p.F445F|COLQ_ENST00000435459.2_Silent_p.F444F	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	454					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GCCCTCAGGTGAAGTAGCGGC	0.592000													4	70					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423316	107423316	+	Missense_Mutation	SNP	C	C	T	rs141942088		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107423316C>T	ENST00000409382.3	-	6	2018	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E470K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	470					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTACAGCTCGTGGTAGTGG	0.557000													8	48					0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32949392	32949392	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:32949392C>T	ENST00000342179.5	+	12	1514	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000586987.1_Silent_p.F433F|DPY19L3_ENST00000392250.2_Silent_p.F433F	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	433						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTGTAGCATTCGTTGTTGCCT	0.358000													19	87					0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	211952301	211952301	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:211952301G>A	ENST00000366997.4	-	6	1039	c.813C>T	c.(811-813)atC>atT	p.I271I	LPGAT1_ENST00000366996.1_Silent_p.I271I	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	271					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGTATCCAAGGATCCAGGTTT	0.363000													29	104					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17976544	17976544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:17976544C>T	ENST00000262608.8	+	2	208	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400573.4_Missense_Mutation_p.R89C|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.R69C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	111					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTGCCTCTTCGCACACGGGT	0.542000													11	88					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612821	7612821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:7612821C>T	ENST00000340080.4	+	4	1136	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C	MIOS_ENST00000405785.1_Missense_Mutation_p.R239C	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	239										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTCCACGATCGTGTTGCTTC	0.398000													12	46					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145695010	145695010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:145695010C>T	ENST00000301332.2	+	12	1737	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	KIFC2_ENST00000301331.5_Missense_Mutation_p.P202S	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	454	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGTCTTCCCTCCAGACGCCAG	0.617000													13	68					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38781841	38781841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38781841G>A	ENST00000359357.3	+	23	2872	c.2618G>A	c.(2617-2619)cGa>cAa	p.R873Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1090Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R873Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTTATGGGCGAAAGCAGTCA	0.313000													4	40					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544639	126544639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:126544639G>A	ENST00000339582.2	-	4	1634	c.826C>T	c.(826-828)Cga>Tga	p.R276*	GRM8_ENST00000444921.2_Nonsense_Mutation_p.R276*|GRM8_ENST00000358373.3_Nonsense_Mutation_p.R276*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Nonsense_Mutation_p.R276*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	276					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATCACTGCTCGAGCATTAGGT	0.413000										HNSCC(24;0.065)			4	24					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:70446316C>T	ENST00000373644.4	+	11	5465	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1752					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTGTTCCCCGTTCTGGAA	0.502000													6	67					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521614	85521614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:85521614G>A	ENST00000393217.2	+	18	4073	c.4012G>A	c.(4012-4014)Gca>Aca	p.A1338T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1338	IQ 2.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATAGTATGGCAGCTGTGGT	0.393000													4	37					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56651250	56651250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:56651250G>A	ENST00000336078.4	+	11	4234	c.3458G>A	c.(3457-3459)aGg>aAg	p.R1153K	ZNF532_ENST00000591230.1_Missense_Mutation_p.R1153K|ZNF532_ENST00000589288.1_Missense_Mutation_p.R1153K|ZNF532_ENST00000591808.1_Missense_Mutation_p.R1153K|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.R1153K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1153M(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGGAGTTCAGGCCTCCCCGA	0.488000													8	30					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31877752	31877752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31877752G>A	ENST00000253354.1	+	4	480	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	107						extracellular space	lipid binding										CAATGACCAGGAGCTGCTAGT	0.552000													4	47					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919962	48919962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:48919962C>T	ENST00000310194.1	+	1	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GAGATGCCATCCCTCCTCCCT	0.498000													8	75					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1957749	1957749	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1957749C>T	ENST00000382895.3	+	17	3146	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	WHSC1_ENST00000382888.3_Silent_p.P253P|WHSC1_ENST00000382891.5_Silent_p.P905P|WHSC1_ENST00000508803.1_Silent_p.P905P|WHSC1_ENST00000382892.2_Silent_p.P905P|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	905	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AAAATGTTCCCCCAAATATTC	0.408000			T	IGH@	MM								22	173					0	0	1	0	0
PRSS22	64063	broad.mit.edu	37	16	2905736	2905736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2905736G>A	ENST00000161006.3	-	4	463	c.398C>T	c.(397-399)tCc>tTc	p.S133F	PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	133	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TTCCTTCCAGGAATACACAGG	0.622000													11	61					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82036269	82036269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:82036269C>T	ENST00000372213.3	-	6	891	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	211					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.E211K(1)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTGATGTCTTCGTTGTGCTGC	0.582000													8	106					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65246568	65246568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65246568C>T	ENST00000389722.3	-	20	4401	c.4348G>A	c.(4348-4350)Gga>Aga	p.G1450R	SPTB_ENST00000556626.1_Missense_Mutation_p.G1450R|SPTB_ENST00000542895.1_Missense_Mutation_p.G1450R|SPTB_ENST00000389720.3_Missense_Mutation_p.G1450R|SPTB_ENST00000389721.5_Missense_Mutation_p.G1450R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1450					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)		TCTGCATCTCCTCCCTCCTCT	0.572000													5	125					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379844	145379844	+	Missense_Mutation	SNP	G	G	A	rs35453884	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:145379844G>A	ENST00000511217.1	+	2	654	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R201Q			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	201	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGACCTACGAGGCAAGGAC	0.592000													5	23					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037297	148037297	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:148037297G>A	ENST00000370460.2	+	11	2201	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	AFF2_ENST00000342251.3_Silent_p.T541T|AFF2_ENST00000286437.5_Silent_p.T215T|AFF2_ENST00000370457.5_Silent_p.T541T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	574					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.T574T(2)|p.T215T(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGAAGACGAATGCCAGTC	0.473000													9	86					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141037	20141037	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:20141037G>A	ENST00000375121.2	-	1	734	c.558C>T	c.(556-558)atC>atT	p.I186I	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	186						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCAGGGCGATGATGAAGG	0.627000													7	88					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270725	73270725	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:73270725C>T	ENST00000224721.6	+	4	308	c.303C>T	c.(301-303)ttC>ttT	p.F101F	CDH23_ENST00000299366.7_Silent_p.F146F|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Silent_p.F146F|CDH23_ENST00000398842.3_Silent_p.F101F|CDH23_ENST00000398809.4_Silent_p.F101F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	101	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGTCAGAGTTCACCGTGGAGT	0.622000													5	97					0	0	1	0	0
SLPI	6590	broad.mit.edu	37	20	43882257	43882257	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:43882257C>A	ENST00000338380.2	-	2	223	c.203G>T	c.(202-204)tGt>tTt	p.C68F		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	68	Trypsin inhibitory domain.|WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TTTGATGCCACAAGTGTCAGG	0.527000													3	23					0.115264	0.116093	1	1	0
GLTSCR1	29998	broad.mit.edu	37	19	48197858	48197858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:48197858C>T	ENST00000396720.3	+	8	2964	c.2770C>T	c.(2770-2772)Cca>Tca	p.P924S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	924							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CACTCCCCCTCCAACCCTCCA	0.692000													6	34					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386398	56386398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56386398G>A	ENST00000355701.3	-	22	5105	c.4235C>T	c.(4234-4236)cCt>cTt	p.P1412L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1352L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1412L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1412						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCTTCTCAGGGGAGCCCCC	0.647000													19	86					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073013	134073013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:134073013C>T	ENST00000359428.5	+	29	4276	c.4132C>T	c.(4132-4134)Ccg>Tcg	p.P1378S	NUP214_ENST00000483497.2_Missense_Mutation_p.P204S|NUP214_ENST00000451030.1_Missense_Mutation_p.P1379S|NUP214_ENST00000411637.2_Missense_Mutation_p.P1368S|NUP214_ENST00000465486.2_3'UTR			P35658	NU214_HUMAN	nucleoporin 214kDa	1378	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.		P -> L (in a breast cancer sample; somatic mutation).		carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACTGCCCCCCCGGTGTTAGG	0.542000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								4	54					0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36297438	36297438	+	Missense_Mutation	SNP	C	C	T	rs148473605		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:36297438C>T	ENST00000301175.3	-	8	1140	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	375					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCTTCACTCCGAAGGCCAGG	0.627000													9	98					0	0	1	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964903	119964903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:119964903C>T	ENST00000543831.1	+	4	1028	c.779C>T	c.(778-780)cCt>cTt	p.P260L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.P260L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	260					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GATGACACGCCTCACCAAAGC	0.512000													3	8					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150788865	150788865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:150788865G>A	ENST00000358595.5	-	19	2020	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L	ARNT_ENST00000505755.1_Missense_Mutation_p.P592L|ARNT_ENST00000515192.1_Missense_Mutation_p.P593L|ARNT_ENST00000354396.2_Missense_Mutation_p.P605L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	607					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTACAGGAGGGGCTAGGCC	0.478000			T	ETV6	AML								8	36					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142004878	142004878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:142004878C>T	ENST00000389484.3	-	5	1480	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	170	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTGTGTTTCTGCAGGTCTG	0.403000										TSP Lung(27;0.18)			4	9					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373637	62373637	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62373637G>A	ENST00000394773.2	-	13	1861	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EML3_ENST00000529309.1_Silent_p.F518F|EML3_ENST00000531557.1_Silent_p.F301F|EML3_ENST00000438258.1_5'UTR|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000278845.4_Silent_p.F519F|EML3_ENST00000494176.2_Silent_p.F490F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	518						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GACACAAGGCGAAGATAGAAC	0.637000													5	47					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920971	46920971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:46920971C>T	ENST00000378623.1	-	5	756	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	172	LDL-receptor class A 4.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTTTGCAGTCGGTGTCACCG	0.582000													11	84					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646744	4646744	+	Missense_Mutation	SNP	C	C	T	rs145250532	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:4646744C>T	ENST00000433935.1	+	6	1348	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	ZMYND15_ENST00000592813.1_Missense_Mutation_p.R431C|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R431C|ZMYND15_ENST00000269289.6_Missense_Mutation_p.R431C	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	431							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAGCCTTCTTCGCGGTGGTGC	0.622000													7	128					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511028	48511028	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:48511028G>A	ENST00000446524.1	+	1	760	c.684G>A	c.(682-684)caG>caA	p.Q228Q		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTTAGTCAGAAAGGGAGGC	0.438000													3	18					0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6331771	6331771	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:6331771T>G	ENST00000381129.3	-	3	412	c.332A>C	c.(331-333)aAg>aCg	p.K111T	AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.K111T|AIPL1_ENST00000574506.1_Missense_Mutation_p.K99T|AIPL1_ENST00000576307.1_Missense_Mutation_p.K51T|AIPL1_ENST00000570466.1_Missense_Mutation_p.K89T|AIPL1_ENST00000571740.1_Missense_Mutation_p.K111T|AIPL1_ENST00000575265.1_Missense_Mutation_p.K111T	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	111	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		TGTGGGGTCCTTGCCCTGGGC	0.637000													5	78					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501615	172501615	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:172501615G>A	ENST00000367723.3	+	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		CCAATCAGATGAGAGGATTCT	0.498000													4	25					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780091	15780091	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:15780091C>T	ENST00000226279.2	+	1	191	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	18					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCTGCCGGCTCTCTAGGAGAG	0.667000													16	94					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751158	51751158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51751158G>A	ENST00000543196.2	-	9	1782	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	GALNT6_ENST00000356317.3_Missense_Mutation_p.S526F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	526	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCCGTGGCAGGAGTACATGAT	0.592000													6	39					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018715	112018715	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:112018715C>T	ENST00000374566.3	-	8	1315	c.798G>A	c.(796-798)gcG>gcA	p.A266A	EPB41L4B_ENST00000374557.4_Silent_p.A266A	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	266	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGCCACTTCGCTTTATTCA	0.438000													13	82					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33614355	33614355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:33614355C>T	ENST00000404816.2	+	32	5169	c.4816C>T	c.(4816-4818)Ccc>Tcc	p.P1606S	LTBP1_ENST00000272273.5_Missense_Mutation_p.P504S|LTBP1_ENST00000407925.1_Missense_Mutation_p.P1280S|LTBP1_ENST00000404525.1_Missense_Mutation_p.P1227S|LTBP1_ENST00000402934.1_Missense_Mutation_p.P1225S|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1607S|LTBP1_ENST00000390003.4_Missense_Mutation_p.P1281S|LTBP1_ENST00000418533.2_Missense_Mutation_p.P1238S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1606					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGAAGCCGATCCCTACTTCAT	0.473000													16	41					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202000976	202000976	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:202000976C>T	ENST00000395148.2	+	5	791	c.579C>T	c.(577-579)atC>atT	p.I193I	CFLAR_ENST00000440180.1_Intron|CFLAR_ENST00000457277.1_Intron|CFLAR_ENST00000423241.2_Intron|CFLAR_ENST00000341222.6_Intron|CFLAR_ENST00000494258.1_Intron|CFLAR_ENST00000340870.5_Intron|CFLAR_ENST00000479953.2_Intron|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Intron|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000342795.5_Intron|CFLAR_ENST00000309955.2_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	0	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GGCTAGAAATCGCGTCCCTTT	0.433000													6	45					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158556	34158556	+	Silent	SNP	G	G	A	rs142510996		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:34158556G>A	ENST00000373381.4	-	25	4202	c.4026C>T	c.(4024-4026)atC>atT	p.I1342I	CSMD2_ENST00000373380.1_Silent_p.I215I|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1302	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTCTGCTTCGATGGTCCAGA	0.567000													5	147					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72477888	72477888	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72477888C>T	ENST00000360141.3	+	6	978	c.690C>T	c.(688-690)caC>caT	p.H230H	CD300A_ENST00000310828.5_Silent_p.H117H|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Silent_p.H34H|CD300A_ENST00000577511.1_Silent_p.H100H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	230					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GTGAGCTGCACTACGCAAATC	0.622000													5	16					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17131301	17131301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:17131301C>T	ENST00000418129.2	+	6	3368	c.2903C>T	c.(2902-2904)tCa>tTa	p.S968L	PLCL2_ENST00000432376.1_Missense_Mutation_p.S968L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1094					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTGCTGTTTCATGTGGACTG	0.413000													8	30					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564092	140564092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140564092C>T	ENST00000361016.2	+	1	3113	c.1958C>T	c.(1957-1959)tCg>tTg	p.S653L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		653	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCGCGCTCGGCCACCGCC	0.711000													6	64					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52365244	52365244	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:52365244C>T	ENST00000420323.2	+	7	1213	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	318	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGCTATACCTGGTACACAA	0.552000													3	18					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180818940	180818940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:180818940G>A	ENST00000410053.3	-	16	1980	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	CWC22_ENST00000295749.6_Missense_Mutation_p.P561S	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	561	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						ACACTCCATGGAAGTGAATCA	0.343000													3	9					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129846083	129846083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:129846083G>A	ENST00000254667.3	+	5	544	c.265G>A	c.(265-267)Gga>Aga	p.G89R	PTPRE_ENST00000430713.2_Missense_Mutation_p.G89R|PTPRE_ENST00000419012.2_Missense_Mutation_p.G89R|PTPRE_ENST00000471218.1_Missense_Mutation_p.G89R|PTPRE_ENST00000306042.5_Missense_Mutation_p.G31R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	89					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.G89R(2)|p.G31R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GATGCCCAACGGAATCTTGGA	0.507000													5	50					0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688740	99688740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99688740G>A	ENST00000303904.3	+	7	651	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	COPS6_ENST00000418625.1_Missense_Mutation_p.R204Q	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	205					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACGTAGCCCGAATGACAGCA	0.562000													15	52					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61441559	61441559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:61441559G>A	ENST00000398571.2	-	68	8394	c.8318C>T	c.(8317-8319)tCc>tTc	p.S2773F	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2773					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAATATGTGGAAAACATCAG	0.373000													4	35					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66330650	66330650	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:66330650G>A	ENST00000513398.1	+	0	2789				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCTCTATGGGGAGAGCGACCT	0.622000													11	40					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99042367	99042367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:99042367C>T	ENST00000376586.2	+	10	1348	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	FARP1_ENST00000319562.6_Missense_Mutation_p.R338W|FARP1_ENST00000595437.1_Missense_Mutation_p.R338W			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	338					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GTCATCATTTCGGTTCAGGTG	0.532000													7	94					0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10421176	10421176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:10421176G>A	ENST00000393708.3	-	5	556	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S	FDX1L_ENST00000494368.1_Missense_Mutation_p.P45S|FDX1L_ENST00000541276.1_3'UTR|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	180					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TGGGGCTTGGGGACATGGCCA	0.612000													5	45					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767689	148767689	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148767689G>A	ENST00000316286.9	-	3	2189	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	ZNF786_ENST00000491431.1_Silent_p.I725I|ZNF786_ENST00000451334.3_Silent_p.I688I			Q8N393	ZN786_HUMAN	zinc finger protein 786	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGGCCTGTGGATGCGCTGGT	0.562000													23	107					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112702606	112702606	+	Silent	SNP	C	C	T	rs148690514	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:112702606C>T	ENST00000295408.4	+	3	809	c.552C>T	c.(550-552)atC>atT	p.I184I	MERTK_ENST00000421804.2_Silent_p.I184I|MERTK_ENST00000409780.1_Silent_p.I8I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	184	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGAAGAGATCGTGTCTGATC	0.398000													4	19					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98445812	98445812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98445812C>T	ENST00000450876.1	-	8	2202	c.887G>A	c.(886-888)gGg>gAg	p.G296E	TMEM130_ENST00000339375.4_Missense_Mutation_p.G380E|TMEM130_ENST00000345589.4_Missense_Mutation_p.G278E|TMEM130_ENST00000546258.1_Missense_Mutation_p.G361E|TMEM130_ENST00000416379.2_Missense_Mutation_p.G392E			Q8N3G9	TM130_HUMAN	transmembrane protein 130	392						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCACCTGACCCCAGAGGGTGG	0.562000													5	34					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27066148	27066148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:27066148C>T	ENST00000480456.1	+	4	872	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	JAM2_ENST00000425221.2_Missense_Mutation_p.R72C|JAM2_ENST00000312957.5_Missense_Mutation_p.R108C|JAM2_ENST00000400532.1_Missense_Mutation_p.R108C	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	108	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGGGAAATATCGTTGTGAAGT	0.403000													4	67					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458518	142458518	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142458518C>T	ENST00000486171.1	+	2	170	c.153C>T	c.(151-153)tcC>tcT	p.S51S	PRSS1_ENST00000311737.7_Silent_p.S51S			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	51	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGGTGGCTCCCTCATCAACG	0.562000													10	53					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113510993	113510993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:113510993G>A	ENST00000505019.1	-	11	3139	c.3014C>T	c.(3013-3015)cCt>cTt	p.P1005L	C4orf21_ENST00000309071.5_Missense_Mutation_p.P1005L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	1005										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGTAGAAACAGGGCTCAATGT	0.353000													4	23					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168272960	168272960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:168272960C>T	ENST00000366806.2	+	4	623	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	MLLT4_ENST00000392108.3_Missense_Mutation_p.L161F|MLLT4_ENST00000392112.1_Missense_Mutation_p.L160F|MLLT4_ENST00000400822.3_Missense_Mutation_p.L160F|MLLT4_ENST00000344191.4_Missense_Mutation_p.L161F|MLLT4_ENST00000351017.4_Missense_Mutation_p.L161F|MLLT4_ENST00000447894.2_Missense_Mutation_p.L161F			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	161					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.L160V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAAGAGAACTCTCTCaaagaa	0.388000			T	MLL	AL								4	46					0	0	1	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206841	151206841	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:151206841T>G	ENST00000409426.1	+	7	1217	c.772T>G	c.(772-774)Tcc>Gcc	p.S258A	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S257A|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.S270A|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S258A			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	270	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACGGCGGGCTTCCCAGAAAGA	0.428000													5	42					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345488	23345488	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23345488C>T	ENST00000359591.4	+	5	2022	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	LRP10_ENST00000546834.1_Missense_Mutation_p.A444V	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	444					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GTCATTACAGCTGCAGTCATT	0.602000													5	91					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143576	55143576	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55143576C>T	ENST00000396331.1	+	6	906	c.549C>T	c.(547-549)tcC>tcT	p.S183S	LILRB1_ENST00000396321.2_Silent_p.S183S|LILRB1_ENST00000448689.1_Silent_p.S183S|LILRB1_ENST00000396332.4_Silent_p.S183S|LILRB1_ENST00000396317.1_Silent_p.S183S|LILRB1_ENST00000434867.2_Silent_p.S183S|LILRB1_ENST00000418536.2_Silent_p.S183S|LILRB1_ENST00000396315.1_Silent_p.S183S|LILRB1_ENST00000396327.3_Silent_p.S183S|LILRB1_ENST00000427581.2_Silent_p.S219S|LILRB1_ENST00000324602.7_Silent_p.S183S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	183	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCATCTTCTCCGTGGGCCCCG	0.577000										HNSCC(37;0.09)			15	96					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31760544	31760544	+	Silent	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31760544A>G	ENST00000375663.3	-	4	1091	c.651T>C	c.(649-651)tcT>tcC	p.S217S	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	217	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTGGCTGATGAGAGAGAGGCC	0.532000													11	108					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975919	76975919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:76975919C>T	ENST00000409911.1	-	3	1901	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E559K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E559K	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	559						integral to membrane		p.E559K(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCGGGGCTTTCGTCCTGCTCT	0.592000													12	115					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030123	95030123	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95030123C>G	ENST00000557004.1	+	2	725	c.304C>G	c.(304-306)Ctt>Gtt	p.L102V	SERPINA4_ENST00000298841.5_Missense_Mutation_p.L102V|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.L102V			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	102					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAGCCAGATCCTTGAGGGCCT	0.632000													7	30					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2573039	2573039	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2573039C>T	ENST00000358864.1	+	8	933	c.918C>T	c.(916-918)gtC>gtT	p.V306V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	306						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTTTCTGTCCTTTGGGATT	0.418000													7	52					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155264116	155264116	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155264116G>A	ENST00000392414.3	-	7	1046	c.933C>T	c.(931-933)atC>atT	p.I311I	PKLR_ENST00000342741.4_Silent_p.I342I	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	342					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTGGGATCTCGATGCCTAGGT	0.572000													4	26					0	0	1	0	0
KRTAP4-2	85291	broad.mit.edu	37	17	39334336	39334336	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:39334336C>T	ENST00000377726.2	-	1	124	c.81G>A	c.(79-81)caG>caA	p.Q27Q		NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	27	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			AGCAGGTGGTCTGGCAGCAGC	0.637000													21	83					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005983	44005983	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44005983C>T	ENST00000372726.3	-	3	280		c.e3-1		TP53TG5_ENST00000494455.1_Splice_Site|TP53TG5_ENST00000537995.1_Splice_Site|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5						intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TTTTTAACACCTGCCAGGGTC	0.542000													26	95					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153184723	153184723	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:153184723G>A	ENST00000370028.3	-	7	873	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ARHGAP4_ENST00000350060.5_Silent_p.F232F|ARHGAP4_ENST00000537206.1_Silent_p.F209F|ARHGAP4_ENST00000370016.1_Silent_p.F211F|ARHGAP4_ENST00000393721.1_Intron	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	232					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					TGTGCTCCATGAACTTGGCCT	0.557000													5	41					0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885828	180885828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:180885828C>T	ENST00000367588.4	+	2	644	c.589C>T	c.(589-591)Cat>Tat	p.H197Y		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	197										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACTTCCTGACCATGACAGAGG	0.627000													7	85					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181482	128181482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:128181482C>T	ENST00000469083.1	-	2	3164	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G203R			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	203					protein folding		heat shock protein binding|unfolded protein binding	p.G203W(1)		kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGCTCCTGCCCGTTCTCCACG	0.612000													4	63					0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596789	142596789	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142596789C>T	ENST00000370503.2	-	2	364	c.281G>A	c.(280-282)gGa>gAa	p.G94E	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	94										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGAAGATCCTTCAGATAA	0.433000													6	16					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50788176	50788176	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50788176C>T	ENST00000433963.1	+	18	3290	c.2790C>T	c.(2788-2790)ttC>ttT	p.F930F	USP8_ENST00000396444.3_Silent_p.F930F|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.F930F|USP8_ENST00000425032.3_Silent_p.F824F	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	930					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AGGGTCAATTCAAATCTACAG	0.393000													4	10					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199170	24199170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:24199170G>A	ENST00000265769.4	+	16	1840	c.1730G>A	c.(1729-1731)gGa>gAa	p.G577E	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G324E|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	577	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCTGGAAAGGACGGATAGTG	0.428000													12	50					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40317395	40317395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:40317395G>A	ENST00000593685.1	-	9	1796	c.1328C>T	c.(1327-1329)cCg>cTg	p.P443L	DYRK1B_ENST00000348817.3_Missense_Mutation_p.P415L|DYRK1B_ENST00000597639.1_Missense_Mutation_p.P415L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.P403L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.P443L			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	443					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCTGCCTGCCGGGCCCGTGTT	0.721000													3	12					0	0	1	0	0
DEFB136	613210	broad.mit.edu	37	8	11831592	11831592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:11831592G>A	ENST00000382209.2	-	2	90	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	31					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		GTGCAGGTGCGAACTTTGACT	0.458000													9	144					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2058478	2058478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2058478G>A	ENST00000280665.6	-	8	1626	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	DCP1B_ENST00000397173.4_Missense_Mutation_p.P414L	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	516					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGCTGTAGCAGGGATGCGCTG	0.597000													7	40					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541904	133541904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133541904G>A	ENST00000409261.1	-	14	2853	c.2480C>T	c.(2479-2481)tCa>tTa	p.S827L	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S827L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	827							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						CAGGCCAGATGAAGGGAGTAG	0.468000													9	168					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49119053	49119053	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:49119053G>A	ENST00000371839.1	-	8	911	c.795C>T	c.(793-795)atC>atT	p.I265I	AGBL4_ENST00000371838.1_Silent_p.I265I|AGBL4_ENST00000334103.7_5'UTR	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	265					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.I265I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		GCATTGGTGCGATCTTGAAGA	0.473000													3	4					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50876645	50876645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:50876645C>T	ENST00000359139.3	+	17	2195	c.1801C>T	c.(1801-1803)Cag>Tag	p.Q601*	PPP6R2_ENST00000216061.5_Nonsense_Mutation_p.Q628*|PPP6R2_ENST00000395744.3_Nonsense_Mutation_p.Q601*|PPP6R2_ENST00000395741.3_Nonsense_Mutation_p.Q602*	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	628						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGACCGCATCCAGCCCTTTGA	0.622000													27	139					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17607202	17607202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:17607202G>A	ENST00000375460.3	+	15	1712	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	558					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGAAGCGGGAGCTGGGCCT	0.592000													4	93					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	266730	266730	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:266730G>A	ENST00000538872.1	+	7	2431	c.2313G>A	c.(2311-2313)caG>caA	p.Q771Q	IQSEC3_ENST00000326261.4_Silent_p.Q771Q|IQSEC3_ENST00000382841.2_Silent_p.Q468Q			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	771	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGTGGTTCAGCAGTTCCACA	0.617000													12	83					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228112043	228112043	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228112043C>T	ENST00000272164.5	-	3	421	c.411G>A	c.(409-411)ctG>ctA	p.L137L	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	137					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACGCCTTGGCCAGTGCGTGCG	0.677000													10	60					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926305	172926305	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172926305C>T	ENST00000315796.4	+	2	507	c.120C>T	c.(118-120)ttC>ttT	p.F40F	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	40					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GAAGAAATTTCTTTTTTCGGA	0.388000													19	183					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45194880	45194880	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45194880G>A	ENST00000279027.4	-	11	1500	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	SLC13A3_ENST00000413164.2_Silent_p.V444V|SLC13A3_ENST00000290317.5_Silent_p.V447V|SLC13A3_ENST00000495082.1_Silent_p.V447V|SLC13A3_ENST00000472148.1_Silent_p.V412V|SLC13A3_ENST00000396360.1_Silent_p.V412V|SLC13A3_ENST00000435032.1_Silent_p.V79V	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	494						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GCTCTGCCAGGACCGGCAGGA	0.612000													15	134					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247634	164247634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:164247634G>A	ENST00000296533.2	-	2	604	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	25					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAGCCAGAAGCTGGGCATTC	0.373000													8	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665315	179665315	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179665315G>A	ENST00000589042.1	-	4	614	c.390C>T	c.(388-390)atC>atT	p.I130I	TTN_ENST00000591111.1_Silent_p.I130I|TTN_ENST00000359218.5_Silent_p.I130I|TTN_ENST00000360870.5_Silent_p.I130I|TTN_ENST00000342992.6_Silent_p.I130I|TTN_ENST00000460472.2_Silent_p.I130I|TTN_ENST00000342175.6_Silent_p.I130I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	130	Ig-like 2.						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)			CAGGTGTAGGGATTCCAGTCA	0.517000													10	77					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225977	21225977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:21225977C>T	ENST00000233242.1	-	29	12444	c.12317G>A	c.(12316-12318)aGa>aAa	p.R4106K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4106					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R4105fs*16(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGCAGATTTCTTCTCAGCTT	0.498000													91	213					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825099	74825099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74825099C>T	ENST00000256362.4	+	2	1854	c.1613C>T	c.(1612-1614)cCt>cTt	p.P538L		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	538					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						AGCCTGTCACCTTCTGCCTTT	0.657000													4	85					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459508	107459508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:107459508G>A	ENST00000409382.3	-	2	1536	c.926C>T	c.(925-927)tCc>tTc	p.S309F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S309F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S309F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	309					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCGCCCAAGGAAGAGTTGAG	0.682000													3	21					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27100000	27100000	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27100000T>A	ENST00000350889.4	-	3	136	c.23A>T	c.(22-24)gAg>gTg	p.E8V	STMN4_ENST00000519614.1_Missense_Mutation_p.E8V|STMN4_ENST00000523048.1_Missense_Mutation_p.E8V|STMN4_ENST00000522908.1_Missense_Mutation_p.E8V|STMN4_ENST00000265770.7_Missense_Mutation_p.E8V|STMN4_ENST00000519997.1_5'UTR	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	8					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CTTCATCTTCTCTTTGTAGGC	0.577000													5	28					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3557545	3557545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:3557545C>T	ENST00000262919.5	+	14	2322	c.2254C>T	c.(2254-2256)Ccc>Tcc	p.P752S	ATRN_ENST00000446916.2_Missense_Mutation_p.P752S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	752					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGATAACCCCATGTACTA	0.502000													4	45					0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152760117	152760117	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152760117T>C	ENST00000368770.3	+	2	395	c.342T>C	c.(340-342)tcT>tcC	p.S114S	LCE1E_ENST00000368771.1_Silent_p.S114S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	114	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCAGCACTCTGGAGGCTGCT	0.597000													14	148					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222867	45222867	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45222867C>T	ENST00000242249.4	+	3	341	c.303C>T	c.(301-303)ttC>ttT	p.F101F	RAMP3_ENST00000481345.1_Silent_p.F101F|RAMP3_ENST00000496212.1_Silent_p.F101F	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	101					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GGCAGTTCTTCTCCAACTGCA	0.607000													21	93					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014008	155014008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155014008G>A	ENST00000295542.1	+	7	763	c.667G>A	c.(667-669)Gag>Aag	p.E223K	DCST1_ENST00000423025.2_Missense_Mutation_p.E198K|DCST1_ENST00000392480.1_Missense_Mutation_p.E223K|DCST1_ENST00000368419.2_Missense_Mutation_p.E223K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	223						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGGGCAGGGAGGCCCGCCA	0.607000													8	87					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9069588	9069588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:9069588C>T	ENST00000457346.2	-	15	1771	c.1697G>A	c.(1696-1698)gGc>gAc	p.G566D	SCUBE2_ENST00000309263.3_Missense_Mutation_p.G537D|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.G566D			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	537						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACTTGCTTGCCAGAGCTGCA	0.468000													17	253					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69263029	69263029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:69263029C>T	ENST00000276101.3	-	5	542	c.537G>A	c.(535-537)atG>atA	p.M179I		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	179						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CCACAATGACCATGTTGCCTG	0.537000													6	8					0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196612840	196612840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:196612840C>T	ENST00000323460.5	+	2	1037	c.788C>T	c.(787-789)gCc>gTc	p.A263V	SENP5_ENST00000445299.2_Missense_Mutation_p.A263V|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	263					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CTAAGAAAAGCCCAGCGAAGC	0.483000													7	44					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718463	142718463	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:142718463G>A	ENST00000381779.4	-	2	687	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLITRK4_ENST00000356928.1_Silent_p.L154L|SLITRK4_ENST00000338017.4_Silent_p.L154L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	154						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTTTGTGGAGCTTATTGA	0.398000													17	33					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220026918	220026918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220026918G>A	ENST00000455516.2	-	12	1617	c.1570C>T	c.(1570-1572)Ctt>Ttt	p.L524F	SLC23A3_ENST00000295738.7_Missense_Mutation_p.L399F|SLC23A3_ENST00000409878.3_Missense_Mutation_p.L516F|SLC23A3_ENST00000396775.3_3'UTR	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	516					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTCGCTCAAGCTGTGTGCCT	0.572000													6	56					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788344	80788344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80788344C>T	ENST00000269394.3	-	3	2679	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E217K	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	616						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAGCCTCCTCGCCGGGGCCT	0.682000													6	65					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152994743	152994743	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:152994743C>T	ENST00000218104.3	+	2	1356	c.957C>T	c.(955-957)ctC>ctT	p.L319L	ABCD1_ENST00000370129.4_Silent_p.L134L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	319	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATCAACCTCATCCTTCTGG	0.597000													19	32					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111155025	111155025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:111155025G>A	ENST00000280325.4	+	3	379	c.232G>A	c.(232-234)Ggc>Agc	p.G78S		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	78										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCCCAACGCGGGCTCTCTGTT	0.667000													5	29					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065338	73065338	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:73065338G>A	ENST00000429829.1	-	0	7250					NR_001564.2																						GAAGGGAAAGGAAGATTGGAG	0.463000													5	24					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507328	1507328	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1507328G>A	ENST00000330475.4	-	9	1208	c.765C>T	c.(763-765)gcC>gcT	p.A255A	ADAMTSL5_ENST00000413997.2_Silent_p.A265A|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Silent_p.A24A	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	255						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCGTGCCGGCCGCCTCGT	0.657000													15	114					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885348	88885348	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:88885348G>A	ENST00000319675.3	-	1	948	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	284								p.F284F(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ATGACACCAGGAATTGGCCAT	0.498000													12	46					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5238958	5238958	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:5238958G>A	ENST00000372412.4	-	13	2057	c.1824C>T	c.(1822-1824)ccC>ccT	p.P608P	PTPRS_ENST00000357368.4_Silent_p.P607P|PTPRS_ENST00000262963.6_Silent_p.P603P|PTPRS_ENST00000587303.1_Silent_p.P607P|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Silent_p.P594P|PTPRS_ENST00000348075.2_Silent_p.P594P|PTPRS_ENST00000588012.1_Silent_p.P594P|PTPRS_ENST00000353284.2_Silent_p.P594P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	607	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCGCACCACGGGGGTGAAGG	0.716000													9	62					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171355153	171355153	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:171355153G>A	ENST00000334231.6	+	26	3093	c.3093G>A	c.(3091-3093)gaG>gaA	p.E1031E	MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000408978.4_Silent_p.E1022E|MYO3B_ENST00000409044.3_Silent_p.E1022E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1022	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						CTAGCAAAGAGAGCTGTGTGG	0.383000													7	58					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655122	110655122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:110655122G>A	ENST00000399066.3	-	1	782	c.55C>T	c.(55-57)Cga>Tga	p.R19*	SYBU_ENST00000433638.1_Nonsense_Mutation_p.R22*|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533895.1_Nonsense_Mutation_p.R21*|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000528647.1_Nonsense_Mutation_p.R21*|SYBU_ENST00000419099.1_Nonsense_Mutation_p.R21*|SYBU_ENST00000276646.9_Nonsense_Mutation_p.R22*|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533171.1_Nonsense_Mutation_p.R22*|SYBU_ENST00000422135.1_Nonsense_Mutation_p.R22*|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000408908.2_Nonsense_Mutation_p.R22*|SYBU_ENST00000424158.2_Nonsense_Mutation_p.R27*|SYBU_ENST00000446070.2_Nonsense_Mutation_p.R21*|SYBU_ENST00000440310.1_Nonsense_Mutation_p.R22*	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	22	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTCGGCTTCGAGAAATCTCC	0.483000													7	82					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228505323	228505323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:228505323G>A	ENST00000570156.2	+	63	16665	c.16591G>A	c.(16591-16593)Gag>Aag	p.E5531K	OBSCN_ENST00000284548.11_Missense_Mutation_p.E4574K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1693K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4574K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2208K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4574					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)				GCTGTGCCACGAGCTGGTGCC	0.682000													5	31					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949539	118949539	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:118949539G>A	ENST00000328252.3	+	2	891	c.522G>A	c.(520-522)ttG>ttA	p.L174L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	174					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTTTCTCCTTGAAGACAGACC	0.527000													4	45					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99808770	99808770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:99808770G>A	ENST00000426455.1	+	30	3782	c.3375G>A	c.(3373-3375)atG>atA	p.M1125I	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.M1125I|STAG3_ENST00000394018.2_Missense_Mutation_p.M1067I|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1125					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAAAGAGATGGAGGAAGAAG	0.587000													5	48					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38738878	38738878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38738878C>T	ENST00000449082.2	-	27	5832	c.5833G>A	c.(5833-5835)Gaa>Aaa	p.E1945K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1945					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGGTGGCTTCATCTTCATTT	0.478000													5	56					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619927	24619927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24619927C>T	ENST00000324103.6	+	8	1638	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S	RNF31_ENST00000382687.3_Missense_Mutation_p.P289S|RNF31_ENST00000559275.1_Missense_Mutation_p.P289S	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	440	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TAGCCCCATTCCAGCACAACA	0.602000													11	98					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48399769	48399769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48399769C>T	ENST00000376771.4	+	2	513	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	TBC1D25_ENST00000537536.1_5'UTR|TBC1D25_ENST00000427713.1_Missense_Mutation_p.P58S|TBC1D25_ENST00000481090.1_3'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	58						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGTAGATCCCCAGATCAC	0.582000													17	110					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863004	23863004	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:23863004C>T	ENST00000405093.3	-	22	2869	c.2799G>A	c.(2797-2799)gaG>gaA	p.E933E	MYH6_ENST00000356287.3_Silent_p.E933E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	933					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCGTTCATCTCCTCCTCAT	0.532000													8	67					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498640	19498640	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:19498640C>T	ENST00000396229.2	+	17	3314	c.2565C>T	c.(2563-2565)acC>acT	p.T855T	TMC5_ENST00000564959.1_Silent_p.T538T|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Silent_p.T496T|TMC5_ENST00000542583.2_Silent_p.T855T|TMC5_ENST00000381414.4_Silent_p.T855T|TMC5_ENST00000219821.5_Silent_p.T609T|TMC5_ENST00000541464.1_Silent_p.T803T	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	855						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGCCATCACCATCTGGAGGT	0.507000													4	28					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74762643	74762643	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74762643G>A	ENST00000356924.4	-	6	725	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ABCD4_ENST00000298816.7_Silent_p.F107F|ABCD4_ENST00000557588.1_Intron|ABCD4_ENST00000557554.1_Intron	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	194	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		TCCCCAGGATGAAATACCCGA	0.552000													8	48					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680125	181680125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:181680125G>A	ENST00000526775.1	+	8	1256	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R364Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R315Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R364Q|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R364Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	364					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGAGAACCGAAGGGCTTTC	0.537000													5	50					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169528509	169528509	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:169528509C>T	ENST00000367796.3	-	5	813	c.612G>A	c.(610-612)caG>caA	p.Q204Q	F5_ENST00000546081.1_Silent_p.Q67Q|F5_ENST00000367797.3_Silent_p.Q204Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	204	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CAAACGTCTTCTGTGTCCCAC	0.443000													3	16					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648243	112648243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:112648243G>A	ENST00000471858.1	-	3	477	c.245C>T	c.(244-246)cCt>cTt	p.P82L	CD200R1_ENST00000308611.3_Missense_Mutation_p.P105L|CD200R1_ENST00000440122.2_Missense_Mutation_p.P105L|CD200R1_ENST00000490004.1_Missense_Mutation_p.P82L|CD200R1_ENST00000295863.4_Missense_Mutation_p.P60L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	82	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGTGCAGGAAGGCTGGCCTCT	0.428000													3	24					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98803137	98803137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:98803137G>A	ENST00000266058.4	-	19	2232	c.1987C>T	c.(1987-1989)Ctc>Ttc	p.L663F	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L663F	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	663					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGTGTGGAGAGGGACTGGAGG	0.647000													12	137					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429085	57429085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57429085C>T	ENST00000306120.3	+	1	575	c.575C>T	c.(574-576)tCg>tTg	p.S192L	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.F255F|GNAS_ENST00000371100.4_Silent_p.F255F|GNAS_ENST00000371102.4_Silent_p.F255F			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGCCAGTTCGCGGCAGTCG	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	10					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453521	53453521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53453521G>A	ENST00000357666.4	-	5	1807	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.H503Y	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTCCAGCATGAAGTCTATGA	0.398000													5	50					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49937004	49937004	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:49937004C>T	ENST00000221485.3	-	7	1017	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SLC17A7_ENST00000543531.1_Silent_p.A270A|SLC17A7_ENST00000600601.1_Silent_p.A215A	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	282					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TCATGAGTTTCGCGCTCTCTC	0.627000													10	36					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135762906	135762906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135762906G>A	ENST00000250617.6	-	15	2893	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.S436L|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.S409L|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.S409L	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	563					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGCACTACATGATGACGATGA	0.468000													9	20					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70031744	70031744	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:70031744C>T	ENST00000355303.5	+	25	2942	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	ANO1_ENST00000531349.1_Silent_p.I588I|ANO1_ENST00000530676.1_Silent_p.I733I|ANO1_ENST00000398543.2_Silent_p.I733I|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Silent_p.I879I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	879					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGTACGACATCTCCAAGGACT	0.587000													5	77					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5969438C>T	ENST00000329564.6	+	1	869	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000													5	55					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65055950	65055950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:65055950C>T	ENST00000298705.1	+	12	1259	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	388																	AACACAAAATCATTTGGGAGA	0.433000													5	37					0	0	1	0	0
LINC00482	284185	broad.mit.edu	37	17	79278553	79278553	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:79278553G>A	ENST00000332012.5	-	0	1040					NR_038080.1																						CTCTGGTCCAGGGGCCTGGGT	0.682000													3	11					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640287	106640287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:106640287C>T	ENST00000515279.1	+	3	717	c.497C>T	c.(496-498)tCt>tTt	p.S166F	GSTCD_ENST00000394728.3_Missense_Mutation_p.S166F|GSTCD_ENST00000394730.3_Missense_Mutation_p.S79F|GSTCD_ENST00000507281.1_Missense_Mutation_p.S79F|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.S166F			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	166	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AGAGAATCTTCTGACCAGCCC	0.408000													7	32					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40269426	40269426	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40269426G>A	ENST00000225916.5	-	10	1670	c.1617C>T	c.(1615-1617)atC>atT	p.I539I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	539	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAGGCGGGCGATATACTCCT	0.627000													4	48					0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722523	53722523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53722523C>T	ENST00000536324.2	-	3	986	c.703G>A	c.(703-705)Gga>Aga	p.G235R	SP7_ENST00000537210.2_Missense_Mutation_p.G217R|SP7_ENST00000303846.3_Missense_Mutation_p.G235R	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACTATTTCCCACTGCCTTG	0.612000													8	53					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151886	158151886	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158151886C>T	ENST00000368171.3	+	4	892	c.393C>T	c.(391-393)ttC>ttT	p.F131F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	131					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.F131L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CAAATAACTTCTTCCATGTAG	0.498000													7	185					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50944432	50944432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50944432C>T	ENST00000374103.4	-	21	2810	c.2725G>A	c.(2725-2727)Gag>Aag	p.E909K	OGDHL_ENST00000419399.1_Missense_Mutation_p.E852K|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.E700K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	909					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						GCCACTTTCTCCTCCAGGTCC	0.632000													6	121					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878166	39878166	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:39878166C>T	ENST00000530275.1	+	1	2016	c.1821C>T	c.(1819-1821)ttC>ttT	p.F607F	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	607										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			ACAGAAACTTCCCAGAGCAGG	0.488000													8	63					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468322	25468322	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25468322C>T	ENST00000453082.2	+	0	870					NR_003343.1																						GCCCTGGTCTCCTGAACTGAG	0.572000													9	51					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202287331	202287331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:202287331G>A	ENST00000367278.3	+	18	1989	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	LGR6_ENST00000439764.2_Missense_Mutation_p.A495T|LGR6_ENST00000255432.7_Missense_Mutation_p.A582T	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	634						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGAGTACGGAGCCCGCTGGGA	0.627000													7	29					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235009	100235009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:100235009G>A	ENST00000305046.8	-	6	864	c.797C>T	c.(796-798)tCg>tTg	p.S266L	ADH1B_ENST00000394887.3_Missense_Mutation_p.S226L			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	266					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.S266L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000													4	74					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134392	71134392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:71134392C>T	ENST00000256367.2	+	2	861	c.518C>T	c.(517-519)gCc>gTc	p.A173V		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	173							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCTGGTGTGGCCTTCTACCAC	0.473000													14	94					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161157941	161157941	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:161157941G>A	ENST00000308192.9	+	14	1767	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	568					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGATTGTGGGAAGCCTCAAG	0.507000													4	23					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505441	32505441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32505441G>A	ENST00000520502.2	+	1	205	c.205G>A	c.(205-207)Ggt>Agt	p.G69S	NRG1_ENST00000287840.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287845.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	280	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCGCCTGAGAGGTTGCCTCAA	0.592000													11	73					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152644759	152644759	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:152644759G>A	ENST00000367255.5	-	82	16372	c.15771C>T	c.(15769-15771)ttC>ttT	p.F5257F	SYNE1_ENST00000341594.5_Silent_p.F4950F|SYNE1_ENST00000423061.1_Silent_p.F5186F|SYNE1_ENST00000265368.4_Silent_p.F5257F|SYNE1_ENST00000448038.1_Silent_p.F5186F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5257					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)		GCTCCAGAACGAACGTGTCGT	0.542000										HNSCC(10;0.0054)			4	65					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175331899	175331899	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:175331899G>A	ENST00000367674.1	-	14	3462	c.2754C>T	c.(2752-2754)ttC>ttT	p.F918F	TNR_ENST00000263525.2_Silent_p.F918F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	918	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGATGGTGAATTCTGTCA	0.517000													11	24					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119320	38119320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:38119320C>T	ENST00000406386.3	+	7	1012	c.757C>T	c.(757-759)Cga>Tga	p.R253*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	253					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGTGGACCTCGAAGCACCAC	0.612000													4	19					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17541980	17541980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:17541980G>A	ENST00000381869.3	-	6	3006	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	MTUS1_ENST00000297488.6_Missense_Mutation_p.P65S|MTUS1_ENST00000544260.1_Missense_Mutation_p.P44S|MTUS1_ENST00000519263.1_Missense_Mutation_p.P845S|MTUS1_ENST00000381861.3_Missense_Mutation_p.P146S|MTUS1_ENST00000262102.6_Missense_Mutation_p.P899S|MTUS1_ENST00000518713.1_5'UTR	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	899						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTCTCAGGGGGCAGCGCA	0.428000													20	191					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709263	176709263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:176709263C>T	ENST00000367662.3	+	14	5246	c.4082C>T	c.(4081-4083)tCc>tTc	p.S1361F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1361					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGACATCCTCCCGCATTGGT	0.517000													5	3					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119626013	119626013	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:119626013C>T	ENST00000313400.4	-	11	1990		c.e11-1		ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2							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						CGCTTCTTCCCTTGGAGAGAA	0.423000													3	12					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50532357	50532357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:50532357G>A	ENST00000317551.6	-	5	660	c.536C>T	c.(535-537)cCa>cTa	p.P179L	CERS5_ENST00000422340.2_Missense_Mutation_p.P121L	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	179	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TACCTGAAATGGATAGTTATG	0.483000													10	118					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30702320	30702320	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:30702320G>A	ENST00000471646.1	-	6	1104	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CRHR2_ENST00000348438.4_Silent_p.F256F|CRHR2_ENST00000506074.2_Silent_p.F229F|CRHR2_ENST00000341843.4_Silent_p.F215F	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	229					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCATCCGATGAAGAGGAAGA	0.582000													5	59					0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74435816	74435816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:74435816C>T	ENST00000394053.2	+	4	610	c.530C>T	c.(529-531)cCa>cTa	p.P177L	MTHFD2_ENST00000409601.1_Missense_Mutation_p.P136L|MTHFD2_ENST00000394050.3_Missense_Mutation_p.P13L|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.P75L	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	177					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCGGCTACTCCATGGGGTGTG	0.393000													42	91					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516190	27516190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27516190C>T	ENST00000301904.3	+	5	523	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SCARA3_ENST00000337221.4_Missense_Mutation_p.S168F	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	168					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		AGACAAATCTCCCAGGAGATG	0.612000													4	57					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642915	34642915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34642915C>T	ENST00000537011.1	+	4	1202	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	NUTM1_ENST00000438749.3_Missense_Mutation_p.R264C|NUTM1_ENST00000333756.4_Missense_Mutation_p.R246C					NUT midline carcinoma, family member 1																		CCCAGTGCTTCGTTCCCTGGC	0.557000													12	33					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103355070	103355070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:103355070C>T	ENST00000358392.2	-	59	4758	c.4441G>A	c.(4441-4443)Gaa>Aaa	p.E1481K	COL11A1_ENST00000353414.4_Missense_Mutation_p.E1430K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1353K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1469K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1469	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCTTTTTCCCCTTGTTCT	0.408000													12	12					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327912	52327912	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52327912T>C	ENST00000339223.4	+	2	1090	c.911T>C	c.(910-912)tTt>tCt	p.F304S	FPR3_ENST00000595991.1_Missense_Mutation_p.F304S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	304					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCTACGTCTTTATGGGTCGT	0.458000													8	29					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675974	62675974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62675974C>T	ENST00000498273.1	+	4	1823	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	510										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAAAGAAATTCCCTTTAGTTA	0.453000													4	30					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76874015	76874015	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:76874015C>T	ENST00000409709.3	+	14	1943	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	MYO7A_ENST00000458637.2_Silent_p.I557I|MYO7A_ENST00000409893.1_Silent_p.I557I|MYO7A_ENST00000409619.2_Silent_p.I546I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	557	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGCAGGCATCGTCTACTATG	0.557000													6	129					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035285	167035285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167035285C>T	ENST00000392766.2	-	13	1424	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.D333N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D362N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D362N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D362N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	362						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CCATCACTATCTTCATCGTTT	0.333000													3	4					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118375975	118375975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118375975C>T	ENST00000534358.1	+	27	9391	c.9368C>T	c.(9367-9369)tCa>tTa	p.S3123L	KMT2A_ENST00000354520.4_Missense_Mutation_p.S3082L|KMT2A_ENST00000389506.5_Missense_Mutation_p.S3120L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ACAAATACTTCAGTATTGGGA	0.443000													10	98					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765700	66765700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:66765700G>A	ENST00000374690.3	+	1	1236	c.712G>A	c.(712-714)Gag>Aag	p.E238K	AR_ENST00000504326.1_Missense_Mutation_p.E238K|AR_ENST00000396044.3_Missense_Mutation_p.E238K|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	236	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAACGCCAAGGAGTTGTGTAA	0.612000									Androgen Insensitivity Syndrome				6	20					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548821	50548821	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50548821C>T	ENST00000595661.1	+	6	1616	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	ZNF473_ENST00000391821.2_Missense_Mutation_p.T374I|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.T362I|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Missense_Mutation_p.T374I|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	374	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GCAAAAACTACCTCTGAGTGT	0.473000													13	64					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230637	147230637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:147230637C>T	ENST00000271348.2	-	2	871	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	GJA5_ENST00000369237.1_Missense_Mutation_p.R237Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	237					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTTGACAAATCGCTGTCTGAT	0.547000													5	42					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24758684	24758684	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:24758684G>A	ENST00000545231.1	-	6	1216	c.66C>T	c.(64-66)atC>atT	p.I22I	DFNA5_ENST00000409775.3_Silent_p.I186I|DFNA5_ENST00000342947.3_Silent_p.I186I|DFNA5_ENST00000409970.1_Silent_p.I22I|DFNA5_ENST00000419307.1_Silent_p.I22I|DFNA5_ENST00000559637.1_5'UTR			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	186					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTTGGTCTGGATGCCCACGA	0.582000													33	98					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606532	31606532	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31606532C>T	ENST00000170150.3	+	9	954	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	253						extracellular region	lipid binding										CCGAGGGCTCCATGGCCACCG	0.627000													18	100					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32585531	32585531	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:32585531C>T	ENST00000341377.5	+	6	1084	c.567C>T	c.(565-567)ttC>ttT	p.F189F	NRG1_ENST00000287840.5_Silent_p.F189F|NRG1_ENST00000520502.2_Silent_p.F244F|NRG1_ENST00000519301.1_Silent_p.F134F|NRG1_ENST00000523079.1_Silent_p.F189F|NRG1_ENST00000521670.1_Silent_p.F189F|NRG1_ENST00000356819.4_Silent_p.F189F|NRG1_ENST00000539990.1_Silent_p.F35F|NRG1_ENST00000287842.3_Silent_p.F189F|NRG1_ENST00000338921.4_Silent_p.F189F|NRG1_ENST00000520407.1_Silent_p.F370F|NRG1_ENST00000405005.2_Silent_p.F189F|NRG1_ENST00000287845.5_Silent_p.F155F			Q02297	NRG1_HUMAN	neuregulin 1	189	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGAAAACTTTCTGTGTGAATG	0.443000													8	50					0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30578107	30578107	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:30578107C>T	ENST00000378962.3	-	3	688	c.366G>A	c.(364-366)aaG>aaA	p.K122K		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	122										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATTATAATTCTTGCAAATAC	0.428000													10	28					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64428293	64428293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64428293C>T	ENST00000265459.6	-	10	2578	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	NRXN2_ENST00000409571.1_Missense_Mutation_p.R699Q|NRXN2_ENST00000377551.1_Missense_Mutation_p.R706Q|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.R675Q	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	706	EGF-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGCCTTCTCGACAGACGCC	0.632000													6	52					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600050	31600050	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31600050C>T	ENST00000376033.2	+	16	3834	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	PRRC2A_ENST00000376007.4_Silent_p.G1200G	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1200	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCCCACAGGCCCTTTGCCAC	0.627000													5	23					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814091	123814091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:123814091C>T	ENST00000321252.2	-	1	489	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCAGAGGAATCCAGCTAGCCA	0.562000													3	19					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29896970	29896970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:29896970G>A	ENST00000308713.5	-	8	1836	c.1309C>T	c.(1309-1311)Ctc>Ttc	p.L437F	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.L323F|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.L367F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.L393F	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	437	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACGTAGAGGGACTGGGCG	0.607000													8	79					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39589264	39589264	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39589264C>T	ENST00000331256.5	+	3	562	c.288C>T	c.(286-288)gtC>gtT	p.V96V	PAPL_ENST00000594229.1_Silent_p.V96V	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		96						extracellular region	acid phosphatase activity|metal ion binding										TACACCGAGTCACGCTTCGCA	0.647000													5	52					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129120694	129120694	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:129120694C>T	ENST00000505956.1	-	9	1623	c.1460_splice	c.e9-1	p.R487_splice	EFCAB12_ENST00000326085.3_Splice_Site_p.R487_splice	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		CCTTCAGCTTCCTGGAAAACA	0.537000													4	15					0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576365	146576365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146576365C>T	ENST00000281317.5	+	7	2246	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	MMAA_ENST00000541599.1_Nonsense_Mutation_p.Q65*	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	346						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAAGATTTCCAGGACCTAAT	0.438000													6	54					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61568713	61568713	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:61568713C>T	ENST00000577647.1	+	8	1206	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	ACE_ENST00000428043.1_Silent_p.A961A|ACE_ENST00000490216.2_Silent_p.A387A|ACE_ENST00000421982.2_Silent_p.A207A|ACE_ENST00000413513.3_Silent_p.A387A|ACE_ENST00000290863.6_Silent_p.A387A|ACE_ENST00000290866.4_Silent_p.A961A			P12821	ACE_HUMAN	angiotensin I converting enzyme	961	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACGCCTCGGCCTGGGACTTCT	0.622000													10	86					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442775	61442775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:61442775C>T	ENST00000261249.6	-	4	1246	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	288						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CGGCTGTGTTCTGTAGACAGA	0.398000													9	69					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92441921	92441921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:92441921C>T	ENST00000370389.2	+	5	1249	c.325C>T	c.(325-327)Cct>Tct	p.P109S	BRDT_ENST00000402388.1_Missense_Mutation_p.P182S|BRDT_ENST00000394530.3_Missense_Mutation_p.P136S|BRDT_ENST00000399546.2_Missense_Mutation_p.P182S|BRDT_ENST00000362005.3_Missense_Mutation_p.P182S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	182	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTCTGTATTTCCTAAGACATC	0.393000													8	41					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080049	54080049	+	Missense_Mutation	SNP	C	C	T	rs143490707		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54080049C>T	ENST00000253144.9	+	7	1568	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	ZNF331_ENST00000511593.2_Missense_Mutation_p.L79F|ZNF331_ENST00000513265.1_Missense_Mutation_p.L79F|ZNF331_ENST00000513999.1_Missense_Mutation_p.L79F|ZNF331_ENST00000411977.2_Missense_Mutation_p.L79F|ZNF331_ENST00000512387.1_Missense_Mutation_p.L79F|ZNF331_ENST00000449416.1_Missense_Mutation_p.L79F|ZNF331_ENST00000511154.1_Missense_Mutation_p.L79F	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L79F(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAGTAAATCCCTTGGCCGTAA	0.393000			T	?	follicular thyroid adenoma								5	43					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40657350	40657350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40657350C>T	ENST00000267889.3	+	6	809	c.722C>T	c.(721-723)tCg>tTg	p.S241L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	241					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACTTCAGCTCGAGCTCCCAC	0.612000													7	104					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102799291	102799291	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102799291C>T	ENST00000393459.1	+	12	1388	c.915C>T	c.(913-915)atC>atT	p.I305I	SFXN3_ENST00000466982.1_3'UTR|SFXN3_ENST00000224807.5_Silent_p.I309I			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	309					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GAGCTCAGATCCATGAGCAAA	0.537000													7	116					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142405169	142405169	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:142405169A>G	ENST00000337777.3	+	9	1145	c.932A>G	c.(931-933)aAa>aGa	p.K311R	PLS1_ENST00000457734.2_Missense_Mutation_p.K311R|PLS1_ENST00000497002.1_Missense_Mutation_p.K311R	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	311	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ATTGCCCCTAAAGGTGGGGAA	0.343000													3	47					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133531428	133531428	+	Missense_Mutation	SNP	C	C	T	rs150198489	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133531428C>T	ENST00000409261.1	-	16	5462	c.5089G>A	c.(5089-5091)Gat>Aat	p.D1697N	NCKAP5_ENST00000409213.1_Missense_Mutation_p.D378N|NCKAP5_ENST00000405974.3_Missense_Mutation_p.D378N|NCKAP5_ENST00000473859.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1697N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1697							protein binding	p.D1697Y(1)|p.D217Y(1)		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						GCAACTGCATCGTCTTCATCC	0.333000													11	78					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570755	570755	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:570755G>A	ENST00000262305.4	+	14	2575	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	RAB11FIP3_ENST00000450428.1_Silent_p.E433E|RAB11FIP3_ENST00000457159.1_Silent_p.E774E	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	729	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGCAGGAGGAGATCAACTTCC	0.587000													5	40					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220999	140220999	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140220999C>T	ENST00000531613.1	+	1	93	c.93C>T	c.(91-93)ctC>ctT	p.L31L	PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L31L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCCAGCTCCACTACTCCG	0.637000													10	42					0	0	1	0	0
C6orf25	80739	broad.mit.edu	37	6	31691628	31691628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31691628C>T	ENST00000375809.3	+	2	285	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	C6orf25_ENST00000375805.2_Missense_Mutation_p.R92W|C6orf25_ENST00000480039.1_Missense_Mutation_p.R92W|C6orf25_ENST00000375810.4_Missense_Mutation_p.R92W	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	92						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						CTCTGGTATCCGGCGGCTGGA	0.677000													55	318					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148640	34148640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:34148640C>T	ENST00000346193.3	-	1	1807	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	586										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGTGTATCTTCCTGAAGCAGT	0.493000													4	31					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201355998	201355998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201355998C>T	ENST00000391967.2	-	3	792	c.491G>A	c.(490-492)aGg>aAg	p.R164K	LAD1_ENST00000367313.3_Missense_Mutation_p.R178K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	164						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTCTGGCTCCCTGCCCACCAA	0.597000													10	102					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73945888	73945888	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73945888G>A	ENST00000537812.1	-	10	1923	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	ACOX1_ENST00000301608.4_Silent_p.I463I|ACOX1_ENST00000293217.5_Silent_p.I463I	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	463					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GCTGTGGCTGGATGCGCTGAC	0.517000													6	69					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049962	42049962	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42049962G>A	ENST00000372584.1	-	3	1521	c.507C>T	c.(505-507)tcC>tcT	p.S169S	HIVEP3_ENST00000372583.1_Silent_p.S169S|HIVEP3_ENST00000429157.2_Silent_p.S169S|HIVEP3_ENST00000247584.5_Silent_p.S169S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	169					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGAGACCTGGGAAGGACGAG	0.602000													9	140					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857693	131857693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:131857693G>A	ENST00000318080.2	-	14	2158	c.1864C>T	c.(1864-1866)Ccc>Tcc	p.P622S		NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	622					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGGCCCGGGGGTGGCTCTGC	0.682000													4	50					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201009498	201009498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:201009498G>A	ENST00000362061.3	-	43	5457	c.5231C>T	c.(5230-5232)cCc>cTc	p.P1744L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1725L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1744					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCCACCCTGGGGCACTGTTC	0.547000													4	33					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846137	130846137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:130846137G>A	ENST00000245255.3	+	16	2233	c.1961G>A	c.(1960-1962)gGg>gAg	p.G654E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	654	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCAATGAAGGGATGACCCGG	0.507000													5	58					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947785	35947785	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:35947785C>T	ENST00000216127.4	+	3	1149	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	169					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GCGCCTACTTCGAGGTGTCGG	0.622000													7	27					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313430	18313430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18313430G>A	ENST00000222256.4	-	2	299	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	41					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TCAGCATAGCGGAAGAGGAAG	0.542000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	157					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687393	27687393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:27687393G>A	ENST00000438700.3	-	4	2251	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	712					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TTCTCATTAGGATCTTGGCTG	0.254000													5	18					0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6230620	6230620	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6230620G>A	ENST00000252674.7	-	4	544	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.P127P(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACTCCGTGGTGGGGTTGTTGA	0.667000			T	MLL	AL								20	144					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78081398	78081398	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78081398C>T	ENST00000302262.3	+	4	954	c.735C>T	c.(733-735)ttC>ttT	p.F245F	GAA_ENST00000390015.3_Silent_p.F245F	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	245					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGACCAGTTCCTTCAGCTGT	0.637000													24	137					0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209768397	209768397	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:209768397C>T	ENST00000009105.1	+	2	314	c.69C>T	c.(67-69)ttC>ttT	p.F23F	CAMK1G_ENST00000361322.2_Silent_p.F23F			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	23	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGAAAACCTTCATTTTTATGG	0.522000													5	61					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496325	62496325	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62496325G>A	ENST00000225792.5	-	13	1962	c.1561C>T	c.(1561-1563)Ctg>Ttg	p.L521L	DDX5_ENST00000578804.1_Silent_p.L521L|DDX5_ENST00000450599.2_Silent_p.L442L|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	521					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CTTTTAAGCAGGCTAGAGTAA	0.433000			T	ETV4	prostate								17	160					0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844561	3844561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3844561G>A	ENST00000309890.7	-	14	1954	c.1804C>T	c.(1804-1806)Ccg>Tcg	p.P602S	ATP2A3_ENST00000359983.3_Missense_Mutation_p.P602S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P602S|ATP2A3_ENST00000352011.3_Missense_Mutation_p.P602S|ATP2A3_ENST00000397043.3_Missense_Mutation_p.P602S|ATP2A3_ENST00000397041.3_Missense_Mutation_p.P602S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	602					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGTCGCGGCGGGTCCAGCATG	0.647000													6	61					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83451680	83451680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:83451680C>T	ENST00000334574.8	-	4	1014	c.833G>A	c.(832-834)gGg>gAg	p.G278E	FSD2_ENST00000541889.1_Missense_Mutation_p.G278E			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	278										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CTTTTTCTCCCCTAGAGCTTG	0.383000													19	169					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19448001	19448001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:19448001C>T	ENST00000392313.5	+	4	429	c.383C>T	c.(382-384)cCg>cTg	p.P128L	MAU2_ENST00000262815.8_Missense_Mutation_p.P128L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	128					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GCAGCAAAGCCGCTGCTGCGG	0.532000													5	28					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416352	48416352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:48416352C>T	ENST00000249598.1	-	1	501	c.342G>A	c.(340-342)atG>atA	p.M114I		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	114					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCCTACCTTCCATGCTGAAGC	0.602000													6	64					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15618904	15618904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:15618904G>A	ENST00000427411.1	-	2	347	c.131C>T	c.(130-132)tCa>tTa	p.S44L	ACE2_ENST00000252519.3_Missense_Mutation_p.S44L	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	44					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGAAGCAAGTGAACTTTGATA	0.413000													9	36					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60945082	60945082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:60945082G>A	ENST00000321731.3	-	5	418	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATGTTTACGAAAAACATCA	0.269000													6	18					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756840	122756840	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:122756840A>G	ENST00000227349.2	+	2	580	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	C11orf63_ENST00000531316.1_Missense_Mutation_p.K95E|C11orf63_ENST00000307257.6_Missense_Mutation_p.K95E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	95										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGCAAGTGGAAAAGCAGCTCA	0.532000													6	57					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144803199	144803199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:144803199G>A	ENST00000338033.4	+	10	1066	c.947G>A	c.(946-948)cGa>cAa	p.R316Q		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	316					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGTGGGCACGAGAGGCAGAT	0.697000													4	18					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66409920	66409920	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:66409920T>C	ENST00000404260.3	+	12	1781	c.1473T>C	c.(1471-1473)ttT>ttC	p.F491F	MAST4_ENST00000490016.2_Silent_p.F299F|MAST4_ENST00000403666.1_Silent_p.F299F|MAST4_ENST00000405643.1_Silent_p.F309F|MAST4_ENST00000261569.7_Silent_p.F294F|MAST4_ENST00000403625.2_Silent_p.F488F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	491						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCTAGGAATTTGATCCGGAAG	0.403000													7	42					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107683	168107683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:168107683G>A	ENST00000409195.1	+	9	9870	c.9781G>A	c.(9781-9783)Gaa>Aaa	p.E3261K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E3261K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E3039K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3086					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						CGCTCAAGAGGAAATCAGGAA	0.423000													3	8					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	291316	291316	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:291316G>A	ENST00000269812.3	-	1	70	c.21C>T	c.(19-21)ttC>ttT	p.F7F	PPAP2C_ENST00000434325.2_Intron	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	7					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCAGCACGAAGACCCACC	0.746000													17	96					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62254087	62254087	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:62254087G>A	ENST00000261517.5	-	35	3682	c.3609C>T	c.(3607-3609)ttC>ttT	p.F1203F	VPS13C_ENST00000395896.4_Silent_p.F1203F|VPS13C_ENST00000249837.3_Silent_p.F1160F|VPS13C_ENST00000395898.3_Silent_p.F1160F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1203					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATTATTCAGGAAGTTCTGTG	0.413000													4	7					0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6468065	6468065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6468065G>A	ENST00000381480.2	-	23	1968	c.1856C>T	c.(1855-1857)tCc>tTc	p.S619F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S575F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	619						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGATGGCAGGGAAAGGGGCTG	0.537000													5	38					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979300	40979300	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:40979300C>T	ENST00000373198.3	-	11	2068	c.1833G>A	c.(1831-1833)ctG>ctA	p.L611L	PTPRT_ENST00000373187.1_Silent_p.L611L|PTPRT_ENST00000373193.3_Silent_p.L611L|PTPRT_ENST00000373184.1_Silent_p.L611L|PTPRT_ENST00000373201.1_Silent_p.L611L|PTPRT_ENST00000356100.2_Silent_p.L611L|PTPRT_ENST00000373190.1_Silent_p.L611L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	611	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGCGGGTTTCAGCATCACTG	0.532000													8	47					0	0	1	0	0
MLYCD	23417	broad.mit.edu	37	16	83949024	83949024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:83949024C>T	ENST00000262430.4	+	5	1431	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	471					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TACCTCGGCTCCAAGATCATC	0.582000													4	38					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62496326	62496326	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62496326G>A	ENST00000225792.5	-	13	1961	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	DDX5_ENST00000578804.1_Silent_p.S520S|DDX5_ENST00000450599.2_Silent_p.S441S|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	520					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTTTAAGCAGGCTAGAGTAAC	0.438000			T	ETV4	prostate								17	159					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81934316	81934316	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:81934316G>A	ENST00000359376.3	+	14	1507	c.1293G>A	c.(1291-1293)acG>acA	p.T431T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	431	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T431T(4)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCTGTTGACGAAGCCCACGG	0.612000													4	44					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620647	137620647	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:137620647C>T	ENST00000371817.3	+	6	1332	c.918C>T	c.(916-918)gtC>gtT	p.V306V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	306	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCACAGAGGTCCCCGAGGTCT	0.632000													20	85					0	0	1	0	0
PDPK1	5170	broad.mit.edu	37	16	2636724	2636724	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2636724C>T	ENST00000342085.4	+	11	1322	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S	PDPK1_ENST00000354836.5_Silent_p.S367S|PDPK1_ENST00000441549.3_Silent_p.S391S|PDPK1_ENST00000268673.7_Silent_p.S264S|PDPK1_ENST00000389224.3_Silent_p.S364S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	391	Poly-Ser.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGTCTTCGTCCTCCTCCTCAC	0.552000													7	91					0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385296	50385296	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50385296G>A	ENST00000232501.3	-	10	1407	c.969C>T	c.(967-969)atC>atT	p.I323I	NPRL2_ENST00000493465.1_5'UTR	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	323					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTAGTCGCCTGATGAGGTTCT	0.587000													6	94					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4968016G>A	ENST00000380373.2	-	1	340	c.315C>T	c.(313-315)ttC>ttT	p.F105F	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	105					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)		ATCCATGAATGAAGAATTCCT	0.443000													5	76					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193361	47193361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:47193361C>T	ENST00000337137.4	+	4	647	c.481C>T	c.(481-483)Cct>Tct	p.P161S	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.P114S|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P114S	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	161						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGATGCCGCCCCTCTGCAGAG	0.637000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	86					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168123337	168123337	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:168123337C>T	ENST00000519560.1	-	28	3461	c.3042G>A	c.(3040-3042)ggG>ggA	p.G1014G	SLIT3_ENST00000332966.8_Silent_p.G1021G|SLIT3_ENST00000404867.3_Silent_p.G1014G	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1014	EGF-like 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTTGTTGATCCCGTCCACGC	0.532000													5	68					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75019046	75019046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:75019046C>T	ENST00000261978.4	-	6	1629	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.E415K|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	415	EGF-like 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACCAGCATTCGTCCCTGCCG	0.652000													7	41					0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118209930	118209930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:118209930G>A	ENST00000300692.4	-	5	599	c.463C>T	c.(463-465)Cga>Tga	p.R155*	CD3D_ENST00000392884.2_Nonsense_Mutation_p.R111*|CD3D_ENST00000529594.1_Nonsense_Mutation_p.R82*	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	155	ITAM.				positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity	p.R155*(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCATCATCTCGATCTCGGAGG	0.542000													9	63					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207196120	207196120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:207196120G>A	ENST00000359470.5	-	4	1238	c.989C>T	c.(988-990)cCt>cTt	p.P330L	C1orf116_ENST00000461135.2_Missense_Mutation_p.P84L	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	330						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AGAATCTCCAGGGGCAGCCTC	0.557000													18	34					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851755	76851755	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76851755G>A	ENST00000262768.7	-	5	955	c.657C>T	c.(655-657)gaC>gaT	p.D219D	TIMP2_ENST00000586057.1_Silent_p.D142D|TIMP2_ENST00000536189.2_Silent_p.D142D|TIMP2_ENST00000585421.1_Silent_p.D142D|RP11-323N12.5_ENST00000587434.1_RNA	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	219							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CTGCTTATGGGTCCTCGATGT	0.592000													4	42					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310196	22310196	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22310196C>T	ENST00000337107.6	+	5	391	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	124	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GCAATGACATCGCCCTCATCA	0.647000													10	46					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41700523	41700523	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41700523G>A	ENST00000310054.4	+	2	468	c.252G>A	c.(250-252)caG>caA	p.Q84Q	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	84					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TGGTTGGGCAGGAGGCTGTGC	0.612000													9	57					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623813	99623813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:99623813C>T	ENST00000370602.1	+	3	330	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	89						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CTTCATCTTCCTCTGCATGGA	0.617000													4	32					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220247935	220247935	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:220247935G>A	ENST00000273075.4	-	10	1074	c.852_splice	c.e10-1	p.A285_splice	DNPEP_ENST00000523282.1_Splice_Site_p.A293_splice|DNPEP_ENST00000373972.1_Splice_Site_p.A210_splice	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	275					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ATCTATCAAGGCCTGGTTCAG	0.587000													4	57					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547731	125547731	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:125547731C>G	ENST00000533904.1	-	2	856	c.514G>C	c.(514-516)Gaa>Caa	p.E172Q	ACRV1_ENST00000426183.1_Missense_Mutation_p.E102Q|ACRV1_ENST00000257382.2_Missense_Mutation_p.E117Q|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.E102Q|ACRV1_ENST00000348856.3_Missense_Mutation_p.E72Q|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000433875.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.E77Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	172	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GAAGCCTGTTCCCCTGAAGCG	0.542000													9	33					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45398735	45398735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:45398735C>T	ENST00000389039.6	-	16	2321	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	DUOX2_ENST00000603300.1_Missense_Mutation_p.G646R			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	646					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTGGCACTCCATCTTTGGCT	0.552000													7	140					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69047177	69047177	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:69047177G>A	ENST00000383701.3	-	10	1558	c.816C>T	c.(814-816)atC>atT	p.I272I	EOGT_ENST00000295571.5_Silent_p.I272I|EOGT_ENST00000540764.1_Silent_p.I171I|EOGT_ENST00000540955.1_Intron	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		CCCACATCACGATGTACACGT	0.393000													4	74					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776282	94776282	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94776282C>T	ENST00000341584.3	-	3	821	c.675G>A	c.(673-675)gaG>gaA	p.E225E		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	225					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCACAGTTGTCTCGTCCACAT	0.557000													5	38					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443745	5443745	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5443745C>T	ENST00000300778.4	+	1	405	c.315C>T	c.(313-315)ttC>ttT	p.F105F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTTTCTTCCTTCATGGAT	0.512000													11	87					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104476364	104476364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:104476364C>T	ENST00000229330.4	+	6	958	c.854C>T	c.(853-855)tCa>tTa	p.S285L		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	285					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTACCAGTTCATTTTCTTAC	0.328000													4	19					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121959	30121959	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:30121959G>A	ENST00000449742.2	-	7	1308	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	411	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						GAGCCGAGACGAAGCCCCAAG	0.672000													4	32					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49749975	49749975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:49749975C>T	ENST00000327697.6	+	27	2704	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	RNF123_ENST00000432042.1_Missense_Mutation_p.R708C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	854			R -> H (in dbSNP:rs34823813).			cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCACGGTGATCGCACAGGGTC	0.582000													5	47					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21086927	21086927	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:21086927C>T	ENST00000395511.3	+	4	650	c.330C>T	c.(328-330)taC>taT	p.Y110Y	DHRS7B_ENST00000579303.1_Silent_p.Y95Y	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	110						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						ACAAGCCTTACTTGGTGACCT	0.498000													4	31					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121200	38121200	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:38121200G>A	ENST00000395867.3	-	6	1633	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Silent_p.F361F|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ACTTCTTGCTGAAATTACTCC	0.413000													9	12					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520986	7520986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:7520986G>A	ENST00000338316.4	+	3	633	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	182					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGCAACACCGGGAGGCAAGGA	0.617000													6	90					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189312	29189312	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:29189312G>A	ENST00000234961.2	+	3	878	c.636G>A	c.(634-636)gtG>gtA	p.V212V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	212					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GGGACACGGTGACCAAGATCT	0.637000													10	43					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50295850	50295850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:50295850G>A	ENST00000298310.5	-	13	1603	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	NEMF_ENST00000545773.1_Missense_Mutation_p.A343V|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.A385V			O60524	NEMF_HUMAN	nuclear export mediator factor	385						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTGAGCCTGGGCTTCTTTCAC	0.393000													19	68					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153665653	153665653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:153665653C>T	ENST00000368680.3	+	21	3575	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	1035					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTGGAGCTTCGAGGGGATGT	0.562000													14	66					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824107	146824107	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:146824107A>T	ENST00000508784.1	-	2	531	c.304T>A	c.(304-306)Tcc>Acc	p.S102T	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S102T			Q17R98	ZN827_HUMAN	zinc finger protein 827	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACTCCCGGGGAAAGGTGATCT	0.587000													7	45					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:118424453G>A	ENST00000369443.4	-	12	1543	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_ENST00000369442.3_Missense_Mutation_p.R432C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000													4	8					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846132	128846132	+	Silent	SNP	G	G	A	rs141792785		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:128846132G>A	ENST00000249373.3	+	5	1342	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	354					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCCTCTCTCGGGCAAGACCT	0.572000			Mis		skin basal cell								5	101					0	0	1	0	0
PSMA5	5686	broad.mit.edu	37	1	109964529	109964529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109964529G>A	ENST00000271308.4	-	2	69	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	PSMA5_ENST00000538610.1_Intron|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	17					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		CTTCCTTCGGGAGAAAAAGTA	0.338000													10	171					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848772	73848772	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:73848772G>A	ENST00000523207.1	+	3	1770	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CATTACTAGGGAAAATTGTGG	0.438000													5	44					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26910556	26910556	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26910556G>A	ENST00000321765.5	-	15	2990	c.2658C>T	c.(2656-2658)ctC>ctT	p.L886L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	886					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTGTAGAAAGAGAGTCAGGC	0.433000													11	71					0	0	1	0	0
RIBC2	26150	broad.mit.edu	37	22	45813729	45813729	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45813729C>T	ENST00000342894.3	+	3	654	c.240C>T	c.(238-240)ttC>ttT	p.F80F	RIBC2_ENST00000538017.1_Silent_p.F148F			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	80										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTTAAACTTCCATGAGAGGA	0.448000													4	20					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83750184	83750184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:83750184G>A	ENST00000432794.1	-	24	3198	c.3035C>T	c.(3034-3036)cCa>cTa	p.P1012L	SEC31A_ENST00000505472.1_Missense_Mutation_p.P1030L|SEC31A_ENST00000500777.2_Missense_Mutation_p.P846L|SEC31A_ENST00000264405.5_Missense_Mutation_p.P748L|SEC31A_ENST00000443462.2_Missense_Mutation_p.P979L|SEC31A_ENST00000513858.1_Missense_Mutation_p.P846L|SEC31A_ENST00000448323.1_Missense_Mutation_p.P999L|SEC31A_ENST00000395310.2_Missense_Mutation_p.P999L|SEC31A_ENST00000505984.1_Missense_Mutation_p.P945L|SEC31A_ENST00000326950.5_Missense_Mutation_p.P960L|SEC31A_ENST00000509142.1_Missense_Mutation_p.P885L|SEC31A_ENST00000348405.4_Missense_Mutation_p.P960L|SEC31A_ENST00000355196.2_Missense_Mutation_p.P999L|SEC31A_ENST00000508502.1_Missense_Mutation_p.P984L|SEC31A_ENST00000311785.7_Missense_Mutation_p.P885L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	999	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTCAAAGCTGGAGGGTCATT	0.388000													9	24					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71748026	71748026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:71748026G>A	ENST00000258104.3	+	11	1322	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	DYSF_ENST00000394120.2_Missense_Mutation_p.E350K|DYSF_ENST00000413539.2_Missense_Mutation_p.E380K|DYSF_ENST00000409762.1_Missense_Mutation_p.E380K|DYSF_ENST00000410041.1_Missense_Mutation_p.E381K|DYSF_ENST00000409651.1_Missense_Mutation_p.E381K|DYSF_ENST00000409744.1_Missense_Mutation_p.E350K|DYSF_ENST00000429174.2_Missense_Mutation_p.E349K|DYSF_ENST00000410020.3_Missense_Mutation_p.E381K|DYSF_ENST00000409582.3_Missense_Mutation_p.E380K|DYSF_ENST00000409366.1_Missense_Mutation_p.E350K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	349						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTGGGGACGAAGCGCCTGT	0.542000													5	79					0	0	1	0	0
ACOT1	641371	broad.mit.edu	37	14	74009849	74009849	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:74009849C>T	ENST00000311148.4	+	3	1064	c.756C>T	c.(754-756)gtC>gtT	p.V252V	HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Silent_p.V226V	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CGGCTGCTGTCGTCATCAACG	0.567000													16	80					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78146285	78146285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:78146285G>A	ENST00000216489.3	-	4	499	c.484C>T	c.(484-486)Cga>Tga	p.R162*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	162					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R162R(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AGTAAACTTCGGGGTCTCCGT	0.403000													6	36					0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754880	6754880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6754880C>T	ENST00000245908.6	-	5	1212	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	SH2D3A_ENST00000437152.3_Missense_Mutation_p.G193R	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	315					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCGGTGCTCCCAGGATGGTGC	0.647000													17	97					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33030963	33030963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:33030963C>T	ENST00000340811.4	-	3	959	c.851G>A	c.(850-852)aGg>aAg	p.R284K	PKP2_ENST00000070846.6_Missense_Mutation_p.R284K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	284					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCTGGAAGCCCTGTTCTGAGT	0.652000													8	55					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94793189	94793189	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:94793189C>T	ENST00000453321.3	+	9	1015	c.957C>T	c.(955-957)ttC>ttT	p.F319F	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Silent_p.F238F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	319					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTACAAATTTCAGTTTTAAAG	0.328000													7	66					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72055996	72055996	+	Silent	SNP	G	G	A	rs143924269	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:72055996G>A	ENST00000265381.4	-	11	2439	c.2217C>T	c.(2215-2217)atC>atT	p.I739I		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	739	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GACATCTCACGATATTCAGCT	0.458000													10	59					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407293	185407293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:185407293G>A	ENST00000382199.2	-	6	622	c.527C>T	c.(526-528)tCc>tTc	p.S176F	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.S119F|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.S182F|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.S176F	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	176					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTGCTCCCGGGAAGAGTGGTC	0.597000													21	228					0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746292	1746292	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:1746292C>T	ENST00000313288.4	+	14	2377	c.2271C>T	c.(2269-2271)atC>atT	p.I757I		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	757						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TGGCAAGGATCACCCAGGAGG	0.612000													6	35					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118681009	118681009	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:118681009G>A	ENST00000355371.4	-	12	1628	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	KIAA1598_ENST00000260777.10_Silent_p.I377I|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.I317I|KIAA1598_ENST00000392903.2_Silent_p.I377I	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	377					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ATCGTTTCCGGATCATGGACA	0.423000													6	21					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766084	57766084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:57766084C>T	ENST00000371030.2	+	1	10	c.10C>T	c.(10-12)Cca>Tca	p.P4S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	4	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AATGGAGGTTCCAGAACCCAC	0.617000													9	58					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640229	34640229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34640229C>T	ENST00000537011.1	+	3	542	c.160C>T	c.(160-162)Cct>Tct	p.P54S	NUTM1_ENST00000438749.3_Missense_Mutation_p.P44S|NUTM1_ENST00000333756.4_Missense_Mutation_p.P26S					NUT midline carcinoma, family member 1																		GTCTCCATCCCCTGCACTTCC	0.532000													6	55					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756757	71756757	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:71756757G>A	ENST00000318442.5	-	2	1057	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		ACGAGGGCACGAAGAAGGGGA	0.687000													10	97					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986627	61986627	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:61986627G>A	ENST00000409186.1	-	5	3710	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	PCDH20_ENST00000409204.4_Silent_p.F535F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	508	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGGTTGAAGGAAAATTGGAG	0.428000													12	59					0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220986660	220986660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220986660G>A	ENST00000366910.5	+	7	1100	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	305	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCTTCAGAACGAAAGTTATAT	0.493000													8	171					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28527820	28527820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:28527820G>A	ENST00000357727.2	+	2	421	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_Missense_Mutation_p.E4K	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	11					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATGAATTTGGAGCAGGAGAG	0.512000													19	354					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97043765	97043765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:97043765C>T	ENST00000524981.3	+	2	140	c.140C>T	c.(139-141)tCt>tTt	p.S47F				Q6ZTY8	CL063_HUMAN		21										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAATCAGGTTCTAGTGCTAAA	0.338000													3	31					0	0	1	0	0
PXDC1	221749	broad.mit.edu	37	6	3737388	3737388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:3737388G>A	ENST00000380283.4	-	3	885	c.391C>T	c.(391-393)Cct>Tct	p.P131S	PXDC1_ENST00000477592.2_5'UTR	NM_183373.3	NP_899229.2	Q5TGL8	CF145_HUMAN	PX domain containing 1	131	PX.				cell communication		phosphatidylinositol binding										TGATCCAGAGGAGATCTTTCG	0.433000													8	88					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987460	22987460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:22987460G>A	ENST00000509305.1	+	3	683	c.337G>A	c.(337-339)Gac>Aac	p.D113N	C1QB_ENST00000314933.6_Missense_Mutation_p.D115N			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	115	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAATCGGGAGACTACAAGGC	0.622000													18	59					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2867672	2867672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:2867672G>A	ENST00000545496.1	-	7	893	c.602C>T	c.(601-603)tCc>tTc	p.S201F	ARSE_ENST00000540563.1_Missense_Mutation_p.S131F|ARSE_ENST00000381134.3_Missense_Mutation_p.S176F			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	176					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCCATCAAGGAGAAAGGCAT	0.517000													5	14					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165560956	165560956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:165560956G>A	ENST00000375458.2	-	8	1444	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.P474L|COBLL1_ENST00000392717.2_Missense_Mutation_p.P446L|COBLL1_ENST00000409184.3_Missense_Mutation_p.P446L|COBLL1_ENST00000342193.4_Missense_Mutation_p.P408L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	446										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTCATACCTGGGCTGGATAG	0.423000													11	57					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50960763	50960763	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50960763C>T	ENST00000374103.4	-	4	484	c.399G>A	c.(397-399)caG>caA	p.Q133Q	OGDHL_ENST00000419399.1_Silent_p.Q76Q|OGDHL_ENST00000432695.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	133					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						GGGGGTCCAGCTGGGCCACAT	0.607000													12	80					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038463	102038463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:102038463C>T	ENST00000549145.1	+	11	918	c.818C>T	c.(817-819)cCt>cTt	p.P273L	MYBPC1_ENST00000536007.1_Missense_Mutation_p.P241L|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P285L|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P260L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P260L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P260L|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P247L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P234L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P260L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P285L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P161L|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P260L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P260L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P246L|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P248L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	260	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATTCTTGATCCTGCATATCAG	0.348000													3	25					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216889	4216889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:4216889G>A	ENST00000600132.1	+	18	2008	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	ANKRD24_ENST00000318934.4_Missense_Mutation_p.E578K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E668K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	578										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAGGACTATGGAAGCTGAGGC	0.567000													5	12					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723974	99723974	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:99723974G>A	ENST00000345514.2	-	2	527	c.261C>T	c.(259-261)gcC>gcT	p.A87A	BCL11B_ENST00000357195.3_Silent_p.A87A|BCL11B_ENST00000443726.2_Intron	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	486						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTCATAGCAGGCACCCAAGC	0.587000			T	TLX3	T-ALL								5	76					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95669758	95669758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:95669758G>A	ENST00000298912.4	-	9	2041	c.1928C>T	c.(1927-1929)cCt>cTt	p.P643L		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	643						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGGGCTGAAGGACAGCCTTC	0.478000													7	72					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022436	51022436	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51022436G>A	ENST00000599957.1	-	3	731	c.534C>T	c.(532-534)ttC>ttT	p.F178F	LRRC4B_ENST00000389201.3_Silent_p.F178F			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	178						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCACGCGGTTGAAGGCGTAGG	0.672000													7	38					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843026	7843026	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7843026G>A	ENST00000329913.3	-	2	590	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	181					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCAGGTTGAAGTGAACAG	0.507000													11	116					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781980	46781980	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:46781980G>A	ENST00000394809.4	-	1	241	c.126C>T	c.(124-126)ttC>ttT	p.F42F	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	42					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCTTCTTGGAAGTGCAGGA	0.622000													6	96					0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62081208	62081208	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:62081208G>A	ENST00000412356.1	-	5	799	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	ICAM2_ENST00000418105.1_Silent_p.L149L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Silent_p.L149L|ICAM2_ENST00000579687.1_Silent_p.L149L|ICAM2_ENST00000578892.1_Silent_p.L125L|ICAM2_ENST00000578379.1_Silent_p.L48L|ICAM2_ENST00000449662.2_Silent_p.L149L|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	149	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CCACGGAACAGGAAGAGGGTG	0.602000													4	70					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983827	44983827	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:44983827G>A	ENST00000372227.1	-	6	1002	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000243896.2_Silent_p.F154F|SLC35C2_ENST00000372230.5_Silent_p.F154F|SLC35C2_ENST00000543605.1_Silent_p.F183F|SLC35C2_ENST00000372229.1_Silent_p.F21F			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	154					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				ACTTGTAGGTGAACATGAAGA	0.627000													8	41					0	0	1	0	0
SSBP1	6742	broad.mit.edu	37	7	141443401	141443401	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:141443401C>A	ENST00000481508.1	+	4	561	c.126C>A	c.(124-126)gaC>gaA	p.D42E	SSBP1_ENST00000498107.1_Missense_Mutation_p.D42E|SSBP1_ENST00000465582.1_Missense_Mutation_p.D42E|SSBP1_ENST00000469123.1_3'UTR|SSBP1_ENST00000484178.1_Missense_Mutation_p.D42E|SSBP1_ENST00000265304.6_Missense_Mutation_p.D42E	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	42	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TGGGTCAGGACCCTGTCTTGA	0.463000													17	72					3.73194e-20	3.80004e-20	1	1	0
MSS51	118490	broad.mit.edu	37	10	75187483	75187483	+	Nonsense_Mutation	SNP	G	G	A	rs138597910	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:75187483G>A	ENST00000299432.2	-	3	330	c.265C>T	c.(265-267)Cga>Tga	p.R89*	MSS51_ENST00000372912.1_Nonsense_Mutation_p.R89*	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	89							zinc ion binding										TGAGGACATCGAAATCCAAAG	0.488000													4	45					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8621098	8621098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:8621098G>A	ENST00000429646.2	+	9	3330	c.537G>A	c.(535-537)atG>atA	p.M179I	CPZ_ENST00000382480.2_Missense_Mutation_p.M434I|CPZ_ENST00000315782.6_Missense_Mutation_p.M560I|CPZ_ENST00000360986.4_Missense_Mutation_p.M571I			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	571					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCCCGGATGAAGAGGGCTG	0.582000													7	29					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205631987	205631987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:205631987G>A	ENST00000367145.3	-	3	1227	c.932C>T	c.(931-933)aCc>aTc	p.T311I		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	311					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCGGGCCTCGGTGCCCGGCTC	0.637000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								11	65					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61112093	61112093	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:61112093G>A	ENST00000373867.3	-	4	477	c.12C>T	c.(10-12)ttC>ttT	p.F4F	FAM13C_ENST00000419214.2_Silent_p.F87F|FAM13C_ENST00000468840.2_Silent_p.F4F|FAM13C_ENST00000422313.2_Silent_p.F87F|FAM13C_ENST00000277705.6_Silent_p.F87F|FAM13C_ENST00000373868.2_Silent_p.F87F|FAM13C_ENST00000435852.2_Silent_p.F87F|FAM13C_ENST00000442566.3_Silent_p.F87F	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	87										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCTGGACTTGAAGTTGCCCA	0.592000													14	72					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68193603	68193603	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:68193603C>T	ENST00000294304.7	+	16	3691	c.3585C>T	c.(3583-3585)gtC>gtT	p.V1195V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1195	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGCCGTGTCGCCCACCTCA	0.627000													5	75					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88722522	88722522	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:88722522G>A	ENST00000301012.3	-	5	623	c.594C>T	c.(592-594)ctC>ctT	p.L198L	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	198					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAAGGATGAGCACGCGGA	0.677000													5	36					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1054255	1054255	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:1054255G>T	ENST00000263094.6	+	27	3872	c.3641G>T	c.(3640-3642)tGg>tTg	p.W1214L	ABCA7_ENST00000433129.1_Missense_Mutation_p.W1214L|ABCA7_ENST00000435683.2_Missense_Mutation_p.W1076L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1214					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTACAGGGCTGGGCACTGACC	0.692000													5	29					0.000602214	0.000608864	1	1	0
SP1	6667	broad.mit.edu	37	12	53776471	53776471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:53776471C>T	ENST00000426431.2	+	3	779	c.719C>T	c.(718-720)tCa>tTa	p.S240L	SP1_ENST00000327443.4_Missense_Mutation_p.S247L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	247	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AATGTACTCTCAGGACAGACT	0.507000													11	77					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7828326	7828326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7828326C>T	ENST00000327325.5	+	2	212	c.94C>T	c.(94-96)Caa>Taa	p.Q32*	CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000334806.5_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q24*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q32*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q32*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	32					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AAGAGACTTTCAATTCCAGCA	0.522000													8	70					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147722	100147722	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:100147722G>A	ENST00000231461.5	-	5	1219	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	303					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AATCCTTAGGGAAGGGCCAGA	0.383000													4	27					0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2492151	2492151	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:2492151C>A	ENST00000355716.4	+	5	848	c.549C>A	c.(547-549)acC>acA	p.T183T	TNFRSF14_ENST00000409119.1_Silent_p.T183T	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	183					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AGCACCAGACCAAGTAAGTGA	0.617000			"""Mis, N, F"""		follicular lymphoma								7	45					0.0293803	0.0296125	1	1	0
CDH4	1002	broad.mit.edu	37	20	60511930	60511930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:60511930G>A	ENST00000360469.5	+	16	2768	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CDH4_ENST00000543233.1_Missense_Mutation_p.D820N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	894					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAAGACTACGATTACCTCAA	0.587000													13	44					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926360	172926360	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:172926360T>A	ENST00000315796.4	+	2	562	c.175T>A	c.(175-177)Tct>Act	p.S59T	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	59					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GGCTGCAGTTTCTTCAGCTCA	0.383000													12	210					0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	368793	368793	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:368793C>T	ENST00000217233.3	+	2	692	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TRIB3_ENST00000422053.2_Silent_p.L74L|TRIB3_ENST00000485293.1_3'UTR	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	47					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCCCCTGCCTGTTGCCCCT	0.637000													16	73					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2333321	2333321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:2333321G>A	ENST00000301732.5	-	26	4601	c.3901C>T	c.(3901-3903)Ccg>Tcg	p.P1301S	ABCA3_ENST00000382381.3_Missense_Mutation_p.P1243S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1301					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)				CCGACCCCCGGGGCGCTCCAG	0.652000													11	52					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529916	43529916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:43529916C>T	ENST00000306846.3	-	10	1550	c.1318G>A	c.(1318-1320)Gga>Aga	p.G440R	PAIP1_ENST00000338972.4_Missense_Mutation_p.G328R|PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.G361R	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	440	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AAATCTGTTCCATTTTCTTCA	0.343000													5	34					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195501130	195501130	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195501130G>A	ENST00000463781.3	-	4	13449	c.12990C>T	c.(12988-12990)ttC>ttT	p.F4330F	MUC4_ENST00000475231.1_Silent_p.F4330F|MUC4_ENST00000346145.4_Silent_p.F94F|MUC4_ENST00000349607.4_Silent_p.F43F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1087					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTCCTGACGAACTCCAGGT	0.627000													8	42					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670820	134670820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:134670820G>A	ENST00000398015.3	+	3	1101	c.731G>A	c.(730-732)gGg>gAg	p.G244E	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	244	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AACGGGGATGGGGAATGGATG	0.577000													7	116					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110232263	110232263	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:110232263G>A	ENST00000418703.2	-	7	1456	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	TRPV4_ENST00000541794.1_Silent_p.P407P|TRPV4_ENST00000537083.1_Silent_p.P394P|TRPV4_ENST00000536838.1_Silent_p.P420P|TRPV4_ENST00000392719.2_Silent_p.P407P|TRPV4_ENST00000346520.2_Silent_p.P394P|TRPV4_ENST00000261740.2_Silent_p.P454P|TRPV4_ENST00000544971.1_Silent_p.P347P	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	454					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTTCATTGATGGGCTCCACAG	0.612000													7	94					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057439	53057439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53057439G>A	ENST00000359798.4	+	5	1450	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TCATACTGGAGAGAAACCTTA	0.358000													4	25					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717955	45717955	+	Missense_Mutation	SNP	G	G	A	rs139367894		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:45717955G>A	ENST00000327619.5	+	8	1113	c.739G>A	c.(739-741)Ggg>Agg	p.G247R	EYA2_ENST00000317304.6_Missense_Mutation_p.G247R|EYA2_ENST00000357410.3_Missense_Mutation_p.G247R	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	247					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)				GGCCTCCGACGGGAAGCTCCG	0.582000													10	76					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123019025	123019025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:123019025C>T	ENST00000462833.1	-	15	4054	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E598K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E581K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	948					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)		CCTGGCACCTCCACGATGAGC	0.627000													4	50					0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45967506	45967506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:45967506G>A	ENST00000257821.4	-	14	1960	c.1337C>T	c.(1336-1338)cCa>cTa	p.P446L	PHF21A_ENST00000418153.2_Missense_Mutation_p.P445L|PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	445					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGGGGATGTTGGGGTAAGGGC	0.517000													7	98					0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57651864	57651864	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57651864G>A	ENST00000402412.1	-	21	2748	c.2358C>T	c.(2356-2358)ccC>ccT	p.P786P	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000441731.2_Silent_p.P467P|R3HDM2_ENST00000413953.2_Silent_p.P499P|R3HDM2_ENST00000358907.2_Silent_p.P772P|R3HDM2_ENST00000403821.2_Silent_p.P806P|R3HDM2_ENST00000393811.2_Silent_p.P499P|R3HDM2_ENST00000347140.3_Silent_p.P772P			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	772						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGACAGGAGAGGGTGCTGGAG	0.577000													4	20					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47969866	47969866	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:47969866G>A	ENST00000319275.3	+	3	141		c.e3-1		SSX6_ENST00000376932.2_Splice_Site																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						TTTTTTCCTAGGCCTTCGATG	0.443000													5	26					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4780485	4780485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:4780485C>T	ENST00000328914.4	+	2	577	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	FOXK1_ENST00000446823.1_Missense_Mutation_p.P30S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	193					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTTCCGGTTTCCCAGCACGGC	0.602000													37	324					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677037	7677037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:7677037C>T	ENST00000446248.2	+	13	1840	c.1739C>T	c.(1738-1740)tCg>tTg	p.S580L	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.S553L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	553					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GCGGTGGCTTCGTCCCCAGCA	0.647000													4	13					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124330318	124330318	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:124330318C>T	ENST00000409039.3	+	30	5203	c.5178C>T	c.(5176-5178)atC>atT	p.I1726I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1726	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAACGCGCATCACCATGCCGC	0.463000													5	63					0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195506	18195506	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:18195506C>T	ENST00000314254.3	+	1	1123	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	235						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTTCGGCATTCTGGGGGCCCT	0.522000													4	27					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130424436	130424436	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:130424436A>C	ENST00000356763.3	-	12	3458	c.2901T>G	c.(2899-2901)aaT>aaG	p.N967K		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	967					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTCAGCATTTTCCATCA	0.413000													5	32					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225378273	225378273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:225378273G>A	ENST00000264414.4	-	5	960	c.622C>T	c.(622-624)Cct>Tct	p.P208S	CUL3_ENST00000409777.1_Missense_Mutation_p.P184S|CUL3_ENST00000344951.4_Missense_Mutation_p.P142S|CUL3_ENST00000409096.1_Missense_Mutation_p.P184S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	208					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCAAAAAAGGAGCCTCAAAA	0.303000													10	28					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125025752	125025752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:125025752G>A	ENST00000522917.1	+	15	2109	c.1903G>A	c.(1903-1905)Gac>Aac	p.D635N	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.D635N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	635						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGTGCTCAGTGACTTCATCAG	0.463000													4	8					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860808	860808	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:860808G>A	ENST00000314167.4	-	21	2918	c.2808C>T	c.(2806-2808)ctC>ctT	p.L936L	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Silent_p.L857L	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	936					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCTTGCCAGGAGCAGCGGGT	0.697000													6	53					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73738802	73738802	+	Silent	SNP	C	C	T	rs139130590	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73738802C>T	ENST00000200181.3	+	25	3109	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	ITGB4_ENST00000579662.1_Silent_p.L974L|ITGB4_ENST00000450894.3_Silent_p.L974L|ITGB4_ENST00000449880.2_Silent_p.L974L|ITGB4_ENST00000339591.3_Silent_p.L974L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	974					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.L974L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCCACCCTCGGCCGCCGCC	0.657000													5	46					0	0	1	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315605	73315605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:73315605G>A	ENST00000258098.6	-	3	1381	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	381					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCTGTGGAACGAGGCCCCTCC	0.637000													13	61					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071500	2071500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2071500G>A	ENST00000262113.4	+	30	3781	c.3640G>A	c.(3640-3642)Gaa>Aaa	p.E1214K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E639K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1214					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTCCATCCTTGAAATAGCTGG	0.403000													4	48					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24674032	24674032	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:24674032C>T	ENST00000361548.4	+	14	1848	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	GRHL3_ENST00000342072.4_Silent_p.L447L|GRHL3_ENST00000236255.4_Silent_p.L545L|GRHL3_ENST00000350501.5_Silent_p.L540L|GRHL3_ENST00000356046.2_Silent_p.L494L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	540					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTGAAGGGGCTGAGGAATGC	0.597000													7	116					0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	796521	796521	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:796521C>T	ENST00000297440.6	+	6	1380	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	HEATR2_ENST00000313147.5_Silent_p.L454L	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	454				L -> M (in Ref. 3; AAH47240).			protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTCCGGCCTCCTGGTGCTGGC	0.647000													8	131					0	0	1	0	0
DUSP5	1847	broad.mit.edu	37	10	112266908	112266908	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:112266908C>T	ENST00000369583.3	+	3	1028	c.744C>T	c.(742-744)ttC>ttT	p.F248F	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	248	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CAATAGACTTCATTGGTAGGT	0.502000													8	68					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158509713	158509713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:158509713C>T	ENST00000355585.4	+	24	3440	c.3365C>T	c.(3364-3366)tCg>tTg	p.S1122L	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1077L|SYNJ2_ENST00000367112.1_Missense_Mutation_p.S207L|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S1122L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1122							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTGAAAAAGTCGGCTTCAGAT	0.522000													17	100					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415333	42415333	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42415333G>A	ENST00000328823.9	+	2	112	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	27					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCGGTCTCCGAATGTGGAGC	0.398000													8	99					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001352	52001352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52001352C>T	ENST00000291707.3	-	5	1380	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G324E	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	442	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTGAATTCCCCTTCATCCTT	0.617000													5	46					0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60264994	60264994	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60264994G>A	ENST00000016913.4	+	2	260	c.203G>A	c.(202-204)gGa>gAa	p.G68E	MS4A12_ENST00000537076.1_Missense_Mutation_p.G68E|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	68						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CCGGGTCAAGGAAATATACAA	0.433000													7	29					0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655381	139655381	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:139655381C>T	ENST00000263552.6	+	11	1204	c.666C>T	c.(664-666)atC>atT	p.I222I	TBXAS1_ENST00000336425.5_Silent_p.I221I|TBXAS1_ENST00000425687.1_Silent_p.I154I|TBXAS1_ENST00000448866.1_Silent_p.I221I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Silent_p.I268I|TBXAS1_ENST00000411653.1_Silent_p.I221I|TBXAS1_ENST00000458722.1_Silent_p.I267I|TBXAS1_ENST00000414508.2_Silent_p.I222I|TBXAS1_ENST00000436047.2_Silent_p.I222I	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	221					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AATTCTGCATCCCCAGACCTA	0.597000													6	87					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101114268	101114268	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:101114268G>A	ENST00000314742.8	-	5	1032	c.810C>T	c.(808-810)ttC>ttT	p.F270F	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Silent_p.F270F|LINS_ENST00000560133.1_Silent_p.F151F	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	270										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTGGCAAGTGAAATGTAACT	0.393000													6	24					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396321	65396321	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:65396321C>T	ENST00000355703.3	+	24	4382	c.3843C>T	c.(3841-3843)ctC>ctT	p.L1281L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1281						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGGCCCTGCTCTCGGGGCTCT	0.652000													4	35					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26501100	26501100	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:26501100C>T	ENST00000311151.5	+	9	1369	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DPYSL2_ENST00000523027.1_Silent_p.S283S|DPYSL2_ENST00000521913.1_Silent_p.S283S	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	319					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TTCTCAACTCCTTGCTGTCCT	0.532000													10	48					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451898	76451898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76451898G>A	ENST00000389840.5	-	63	10080	c.9956C>T	c.(9955-9957)tCg>tTg	p.S3319L	DNAH17_ENST00000585328.1_Missense_Mutation_p.S3328L|DNAH17_ENST00000586052.1_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATGTTTTCCGATGCTAATCC	0.557000													6	26					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678345	64678345	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64678345G>A	ENST00000421419.2	-	11	1662	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	ATG2A_ENST00000377264.3_Silent_p.H516H			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	516							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGCCCGAAGTGCACTTCCA	0.677000													4	12					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57012110	57012110	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:57012110G>A	ENST00000200676.3	+	11	1219	c.1089G>A	c.(1087-1089)gtG>gtA	p.V363V	CETP_ENST00000379780.2_Silent_p.V303V|CETP_ENST00000566128.1_Silent_p.V298V	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	363					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CAGTGATGGTGAAATTCCTCT	0.557000													11	125					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166824	140166824	+	Missense_Mutation	SNP	G	G	A	rs143010606		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:140166824G>A	ENST00000504120.2	+	1	949	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	PCDHA1_ENST00000394633.3_Missense_Mutation_p.E317K|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E317K	NM_018900.2	NP_061723.1												p.E317K(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATCCTACGAAATTCAAGT	0.353000													9	47					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7949229	7949229	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:7949229C>T	ENST00000332175.8	+	6	1751	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PTPRM_ENST00000400053.4_Silent_p.S176S|PTPRM_ENST00000580170.1_Silent_p.S238S|PTPRM_ENST00000444013.1_Silent_p.S25S|PTPRM_ENST00000400060.4_Silent_p.S238S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	238	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGACCAGCTCCCGACGCTTCA	0.468000													4	43					0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858321	27858321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:27858321G>A	ENST00000359303.2	-	1	249	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C		NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	84					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTCTGGAAACGAAGGTCGGTT	0.562000													4	64					0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66957811	66957811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:66957811C>T	ENST00000299759.6	-	3	632	c.382G>A	c.(382-384)Gat>Aat	p.D128N	RRAD_ENST00000420652.1_Missense_Mutation_p.D128N			P55042	RAD_HUMAN	Ras-related associated with diabetes	128					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATGGAGCGATCATAGGTGTGC	0.572000													8	111					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603327	101603327	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101603327C>T	ENST00000536262.2	-	1	858	c.300G>A	c.(298-300)gcG>gcA	p.A100A		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	100					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A100A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGACCTCCGCGCTGATGA	0.597000													3	13					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25715851	25715851	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:25715851G>A	ENST00000520164.1	-	14	2049	c.1512C>T	c.(1510-1512)acC>acT	p.T504T	EBF2_ENST00000535548.1_Silent_p.T235T|EBF2_ENST00000408929.3_Silent_p.T356T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	504	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AAGGAGAGCCGGTGGGTGAGC	0.473000													11	44					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220227	41220227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41220227G>A	ENST00000324464.3	-	3	479	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	ADCK4_ENST00000243583.6_Missense_Mutation_p.R60C|ADCK4_ENST00000450541.1_Missense_Mutation_p.R60C	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	60						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGTGCCCTGCGAATGTCCTCC	0.602000													12	56					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735936	12735936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:12735936G>A	ENST00000380682.1	+	16	3497	c.2991G>A	c.(2989-2991)atG>atA	p.M997I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	997					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACATGGAGATGGAGCCTGAAA	0.532000													17	33					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644566	169644566	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:169644566C>T	ENST00000428432.2	+	6	905	c.516C>T	c.(514-516)caC>caT	p.H172H	SAMD7_ENST00000335556.3_Silent_p.H172H	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	172										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CTGCACCACACTTTGAGGAGA	0.522000													4	64					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954705	161954705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:161954705C>T	ENST00000294794.3	-	7	1963	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	OLFML2B_ENST00000367938.1_5'UTR|OLFML2B_ENST00000367940.2_Missense_Mutation_p.E515K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	514	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CAGGCCCCTTCATTCCGCCCA	0.557000													7	125					0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16222790	16222790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16222790C>T	ENST00000300935.3	+	1	352	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	RAB8A_ENST00000588105.1_3'UTR|RAB8A_ENST00000586682.1_Missense_Mutation_p.R27C	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	27					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TGTCCTGTTCCGCTTCTCCGA	0.632000													44	194					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142487558	142487558	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142487558C>T	ENST00000430863.1	-	0	1470					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CACAGAGTGTCCTGGGGCTCC	0.672000													7	57					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910505	35910505	+	Missense_Mutation	SNP	C	C	T	rs145854210		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:35910505C>T	ENST00000397367.2	-	3	404	c.278G>A	c.(277-279)gGa>gAa	p.G93E	CAPSL_ENST00000514524.1_Missense_Mutation_p.G93E|CAPSL_ENST00000397366.1_Missense_Mutation_p.G93E	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	93	EF-hand 2.					cytoplasm	calcium ion binding	p.G93E(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GTCTATTGTTCCATTTCCATC	0.373000													7	33					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621048	135621048	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:135621048C>T	ENST00000356140.5	+	5	469	c.333C>T	c.(331-333)ttC>ttT	p.F111F	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Silent_p.F53F|ACMSD_ENST00000283054.4_Silent_p.F53F	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	111					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCAGGAGGTTCGTGGGTCTGG	0.577000													5	68					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218924939	218924939	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218924939C>T	ENST00000439871.1	-	0	1441					NR_002712.1																						TCCTCTGCTTCCTGCGACCAC	0.527000													5	19					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170059297	170059297	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:170059297A>C	ENST00000333572.6	-	12	1723	c.1204T>G	c.(1204-1206)Tgc>Ggc	p.C402G	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.C402G|WDR27_ENST00000423258.1_Missense_Mutation_p.C275G			A2RRH5	WDR27_HUMAN	WD repeat domain 27	372										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCCAGCAAGCACAGCACCTGC	0.587000													7	122					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33700229	33700229	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:33700229G>A	ENST00000354992.2	-	13	2287	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	LARGE_ENST00000452586.2_Silent_p.L371L|LARGE_ENST00000437602.2_Silent_p.L572L|LARGE_ENST00000397394.2_Silent_p.L572L|LARGE_ENST00000402320.1_Silent_p.L520L|LARGE_ENST00000337431.2_Silent_p.L520L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	572					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGTACTCATAGAGCCCATACA	0.562000													5	60					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702167	60702167	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60702167C>T	ENST00000005286.4	+	9	1923	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	TMEM132A_ENST00000453848.2_Silent_p.D589D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	589						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGCTGGACTCGCGTGTAG	0.706000													4	33					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55758908	55758908	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:55758908G>A	ENST00000395863.3	-	4	1333	c.828C>T	c.(826-828)ttC>ttT	p.F276F	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Silent_p.F276F|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	276					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)			AAGCCACCATGAAGGGCTGCT	0.622000													8	46					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556420	29556420	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:29556420G>A	ENST00000383640.2	+	1	738	c.699G>A	c.(697-699)agG>agA	p.R233R	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	233					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGGGCGGAGGAAAGCTTTTG	0.527000													7	69					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1010583	1010583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1010583C>T	ENST00000534328.1	+	9	1155	c.1013C>T	c.(1012-1014)cCg>cTg	p.P338L	AP2A2_ENST00000448903.2_Silent_p.A926A|AP2A2_ENST00000332231.5_Silent_p.A927A			O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	0					axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTAAGGAAGCCGTTTCTCAGA	0.547000													4	10					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46937283	46937283	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:46937283G>A	ENST00000449590.1	+	5	440	c.237G>A	c.(235-237)agG>agA	p.R79R	PTH1R_ENST00000418619.1_Silent_p.R79R|PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000430002.2_Silent_p.R79R|PTH1R_ENST00000313049.5_Silent_p.R79R	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	79						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGAAGCCCAGGAAAGATAAGG	0.547000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	35					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970341	123970341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:123970341C>T	ENST00000369005.1	+	9	6741	c.6401C>T	c.(6400-6402)tCc>tTc	p.S2134F	TACC2_ENST00000453444.2_Missense_Mutation_p.S2138F|TACC2_ENST00000368999.1_Missense_Mutation_p.S212F|TACC2_ENST00000334433.3_Missense_Mutation_p.S2134F|TACC2_ENST00000360561.3_Missense_Mutation_p.S212F|TACC2_ENST00000515603.1_Missense_Mutation_p.S2089F|TACC2_ENST00000369004.3_Missense_Mutation_p.S212F|TACC2_ENST00000260733.3_Missense_Mutation_p.S212F|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.S280F|TACC2_ENST00000515273.1_Missense_Mutation_p.S2138F|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.S280F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2134						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGCCGCCTTCCTTAAAAAAG	0.557000													9	95					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159367	123159367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:123159367C>T	ENST00000264501.4	+	28	4068	c.3695C>T	c.(3694-3696)tCc>tTc	p.S1232F	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1232F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1232F			Q2LD37	K1109_HUMAN	KIAA1109	1232	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCTCTTCCTCAGAAGAG	0.413000													7	37					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16688711	16688711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:16688711G>A	ENST00000443824.1	-	11	1924	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	CTPS2_ENST00000380241.3_Missense_Mutation_p.P394L|CTPS2_ENST00000359276.4_Missense_Mutation_p.P394L	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	394	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCCAGAAAAGGAATCTTCTT	0.398000													22	67					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123587262	123587262	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:123587262G>A	ENST00000422452.2	-	23	4092	c.4029C>T	c.(4027-4029)atC>atT	p.I1343I	TENM1_ENST00000371130.3_Silent_p.I1336I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTACAGTTGTGATCACAGCAT	0.428000													4	38					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408108	30408108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:30408108G>A	ENST00000375994.2	+	2	505	c.232G>A	c.(232-234)Gga>Aga	p.G78R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G78R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	78					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCCCCAAAGGAGAGGGTGA	0.667000													4	41					0	0	1	0	0
POLR2M	81488	broad.mit.edu	37	15	58004349	58004349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:58004349C>T	ENST00000299638.3	+	3	1140	c.926C>T	c.(925-927)tCc>tTc	p.S309F	GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.S309F|GCOM1_ENST00000380569.2_Missense_Mutation_p.S491F|POLR2M_ENST00000380557.4_Missense_Mutation_p.S152F|GCOM1_ENST00000587652.1_Missense_Mutation_p.S706F|GCOM1_ENST00000484300.1_3'UTR	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		ATAGAAGAATCCTTGGCACTT	0.453000													7	67					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288017	74288017	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:74288017G>A	ENST00000262765.5	-	4	2472	c.2293C>T	c.(2293-2295)Ctg>Ttg	p.L765L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	765							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTTGTACCAGGCCATGTGGA	0.532000													10	158					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433035	67433035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:67433035C>T	ENST00000349015.3	-	7	865	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.D143N	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	143					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTGGGGGTCGCAGTTGTCG	0.637000													14	156					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026032	16026032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:16026032C>T	ENST00000350896.3	-	4	762	c.565G>A	c.(565-567)Gat>Aat	p.D189N	MSR1_ENST00000262101.5_Missense_Mutation_p.D189N|MSR1_ENST00000445506.2_Missense_Mutation_p.D207N|MSR1_ENST00000355282.2_Missense_Mutation_p.D189N|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Missense_Mutation_p.D189N	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	189					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGCTGCAAATCAAGCAATGTG	0.403000													5	39					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934614	30934614	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:30934614G>A	ENST00000355537.3	+	2	292	c.145G>A	c.(145-147)Gag>Aag	p.E49K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E49K(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCCTTCCCCGAGCTCCATCC	0.667000													6	63					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229360	39229360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39229360C>T	ENST00000340369.3	-	2	1805	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R526Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	526							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACTGGGGCTTCGGCCGAGCTG	0.617000													6	88					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738506	51738506	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:51738506C>T	ENST00000436584.2	+	4	514	c.459C>T	c.(457-459)ttC>ttT	p.F153F	CD33_ENST00000391796.3_Silent_p.F280F|CD33_ENST00000262262.4_Silent_p.F280F|CD33_ENST00000421133.2_Silent_p.F153F			P20138	CD33_HUMAN	CD33 molecule	280	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCATCTTCTTCATGTGAGCAT	0.567000													12	38					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18020370	18020370	+	Missense_Mutation	SNP	G	G	A	rs141453031	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:18020370G>A	ENST00000262608.8	+	13	1702	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	CECR2_ENST00000400573.4_Missense_Mutation_p.D567N|CECR2_ENST00000400585.2_Missense_Mutation_p.D426N	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	609					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTCTGGGGACGATCAGAGCAG	0.642000													7	45					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765398	18765398	+	Missense_Mutation	SNP	C	C	T	rs140827083	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:18765398C>T	ENST00000304081.4	-	5	947	c.847G>A	c.(847-849)Gag>Aag	p.E283K	NT5C1B_ENST00000359846.2_Missense_Mutation_p.E343K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E343K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E343K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATGACGTTCTCATTGGTGAGC	0.572000													6	151					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90171980	90171980	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:90171980C>T	ENST00000394412.3	-	19	3778	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	KIF7_ENST00000558928.1_5'UTR	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1234					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCAGGAGCCTGTCTGCCCT	0.632000													5	36					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370431	126370431	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:126370431G>A	ENST00000337318.3	-	4	862	c.651C>T	c.(649-651)ccC>ccT	p.P217P	FAM53B_ENST00000392754.3_Silent_p.P217P|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.P217P	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	217										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CTCCTCCCACGGGGTGCAGGT	0.637000													6	18					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31740776	31740776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31740776G>A	ENST00000375686.3	-	7	1279	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.P348S|VWA7_ENST00000447450.1_Missense_Mutation_p.P348S	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	348						extracellular region											GGCTCCATGGGGCTGCCTCTC	0.567000													39	235					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57957965	57957965	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57957965C>T	ENST00000455537.2	+	4	640	c.366C>T	c.(364-366)tcC>tcT	p.S122S	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	122	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACATCTACTCCATGGATGAGA	0.517000													5	44					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241814562	241814562	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241814562C>T	ENST00000307503.3	+	7	1104	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	239					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCCTTCTCCTTCTACCTGG	0.602000													8	62					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45938082	45938082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:45938082C>T	ENST00000348697.2	+	10	1261	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	FBLN1_ENST00000327858.6_Missense_Mutation_p.R372C|FBLN1_ENST00000340923.5_Missense_Mutation_p.R372C|FBLN1_ENST00000402984.3_Missense_Mutation_p.R410C|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000442170.2_Missense_Mutation_p.R372C|FBLN1_ENST00000262722.7_Missense_Mutation_p.R372C			P23142	FBLN1_HUMAN	fibulin 1	372	EGF-like 5; calcium-binding.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAGGGACATCGCTGCGTGAA	0.557000													37	162					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48125808	48125808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:48125808G>A	ENST00000376919.3	+	7	689	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						TGACCCTGAGGAAGATGACGA	0.493000			T	SS18	synovial sarcoma								15	66					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084844	53084844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:53084844C>T	ENST00000276480.7	-	10	1260	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	193						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGTTACTTTCATTGTCATCA	0.438000													5	68					0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239036292	239036292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:239036292C>T	ENST00000343063.3	+	7	1395	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y	ESPNL_ENST00000409506.1_Missense_Mutation_p.H10Y|ESPNL_ENST00000409169.1_Missense_Mutation_p.H334Y	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	378	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGCCTGGCCATCCTGACCA	0.657000													7	24					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15517241	15517241	+	Silent	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:15517241A>T	ENST00000455584.2	-	9	1750	c.1707T>A	c.(1705-1707)gtT>gtA	p.V569V	CDRT1_ENST00000395906.3_Silent_p.V259V																							CATCCAGGTCAACCAATAGAT	0.468000													14	101					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124391	142124391	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142124391G>A	ENST00000390376.2	-	0	86																											TCAGGATGTGGAATTTTGGGG	0.522000													18	42					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40474489	40474489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:40474489C>T	ENST00000264657.5	-	21	2224	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	STAT3_ENST00000389272.3_Missense_Mutation_p.E540K|STAT3_ENST00000588969.1_Missense_Mutation_p.E638K|STAT3_ENST00000404395.3_Missense_Mutation_p.E638K|STAT3_ENST00000585517.1_Missense_Mutation_p.E638K	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	638	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GTGTATGGTTCCACGGACTGG	0.453000									Hyperimmunoglobulin E Recurrent Infection Syndrome				14	163					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236894533	236894533	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236894533G>A	ENST00000366578.4	+	7	782	c.615_splice	c.e7-1	p.D206_splice	ACTN2_ENST00000542672.1_Splice_Site_p.D206_splice|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	206	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TTTCATACAGGATGACCCCAT	0.378000													4	44					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62288269	62288269	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62288269G>A	ENST00000378024.4	-	5	13894	c.13620C>T	c.(13618-13620)tcC>tcT	p.S4540S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4540					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTTAGGAACGGAAATGTCCA	0.413000													4	47					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31752246	31752246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31752246G>A	ENST00000375663.3	-	12	1941	c.1501C>T	c.(1501-1503)Ctc>Ttc	p.L501F	VARS_ENST00000444930.2_Missense_Mutation_p.L206F	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	501					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GGCACGGAGAGCAGGGTGCGA	0.597000													79	556					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022498	12022498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:12022498C>T	ENST00000396373.4	+	5	878	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	202						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCGGCCCCTCCGGTCCCCCCT	0.632000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								9	154					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672685	62672685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:62672685G>A	ENST00000498273.1	+	3	680	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	129										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aataggtgatgataatgaaaa	0.318000													14	72					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79207685	79207685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:79207685C>T	ENST00000264895.6	+	14	1966	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	FRAS1_ENST00000264899.6_Missense_Mutation_p.S509F|FRAS1_ENST00000325942.6_Missense_Mutation_p.S509F	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	509					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						GATCGCCATTCCTGTGCAGGT	0.622000													4	47					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415796	178415796	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:178415796G>A	ENST00000408939.2	-	1	1946	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	566					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTGATAACTCGAGAAATACCA	0.368000													12	105					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984134	2984134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2984134C>T	ENST00000396946.4	-	5	799	c.396G>A	c.(394-396)atG>atA	p.M132I	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	132					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGACCTCGTTCATCAGGAAGT	0.602000			Mis		DLBCL								5	78					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111090415	111090415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:111090415C>T	ENST00000262839.2	-	6	2545	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	543					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTCTGGTTTCATAATAGAAG	0.433000													6	39					0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:94933482C>T	ENST00000337425.5	-	3	994	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SERPINA9_ENST00000380365.3_Missense_Mutation_p.R289K|SERPINA9_ENST00000298845.7_Missense_Mutation_p.R207K|SERPINA9_ENST00000546329.1_Missense_Mutation_p.R271K|SERPINA9_ENST00000424550.2_Missense_Mutation_p.R158K|SERPINA9_ENST00000448305.2_Missense_Mutation_p.R209K	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	289					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537000													6	47					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41052574	41052574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:41052574C>T	ENST00000399564.4	-	12	1673	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TACCAGATTCCTGTTCAACGT	0.388000													8	37					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64878954	64878954	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64878954C>T	ENST00000279281.3	+	10	2336	c.2244C>T	c.(2242-2244)ctC>ctT	p.L748L	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		ACGAAGAACTCGTGCACTTGC	0.637000													4	46					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116434436	116434436	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:116434436G>A	ENST00000281928.3	-	16	3047	c.2841C>T	c.(2839-2841)tcC>tcT	p.S947S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	947					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAACATGGAGGATCCCACAA	0.448000													9	22					0	0	1	0	0
GUCA2B	2981	broad.mit.edu	37	1	42620505	42620505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:42620505C>T	ENST00000372581.1	+	2	275	c.245C>T	c.(244-246)tCg>tTg	p.S82L		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	82					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCTGCGCCTCGCAGGAGGCT	0.682000													4	56					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924334	227924334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:227924334G>A	ENST00000396625.3	-	28	2377	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R724C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	724	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGTCACCACGAAAACCTATT	0.413000													17	60					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592515	38592515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:38592515G>A	ENST00000413689.1	-	28	5541	c.5348C>T	c.(5347-5349)aCc>aTc	p.T1783I	SCN5A_ENST00000443581.1_Missense_Mutation_p.T1782I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1729I|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1765I|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1783I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1729I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1729I|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1750I|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1765I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1782I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1783					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGGGCTCGGTGCTCTCCTC	0.502000													4	55					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588011	247588011	+	Silent	SNP	G	G	A	rs143305855		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:247588011G>A	ENST00000366497.2	+	4	2046	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	NLRP3_ENST00000336119.3_Silent_p.L422L|NLRP3_ENST00000391828.3_Silent_p.L422L|NLRP3_ENST00000348069.2_Silent_p.L422L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L422L|NLRP3_ENST00000391827.2_Silent_p.L422L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	422	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	p.L422L(1)		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)			GCACTGGACTGAAACAGCAGA	0.582000													7	50					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699198	79699198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:79699198G>A	ENST00000538312.1	+	5	1494	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	FAM46D_ENST00000308293.5_Missense_Mutation_p.G387D	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	387										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GGATCAAATGGTATGAGTTAA	0.373000													3	1					0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33834663	33834663	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33834663C>T	ENST00000246186.6	+	2	352	c.267C>T	c.(265-267)ggC>ggT	p.G89G	MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	89					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGTCCTATGGCTATCTGCTTC	0.522000													12	98					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55268064	55268064	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:55268064C>T	ENST00000275493.2	+	24	3081	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_ENST00000455089.1_Silent_p.F923F|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.F915F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	968	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCATCGAATTCTCCAAAATGG	0.478000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	97					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100150	121100150	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:121100150A>T	ENST00000273666.6	+	23	2701	c.2430A>T	c.(2428-2430)gaA>gaT	p.E810D	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E810D|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E786D|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E786D|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E784D	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	810					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAACCGAGAAAATTCCTATA	0.294000													4	19					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2564905	2564905	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:2564905C>T	ENST00000222725.5	+	3	554	c.534C>T	c.(532-534)tcC>tcT	p.S178S	LFNG_ENST00000402045.1_Silent_p.S49S|LFNG_ENST00000402506.1_Silent_p.S107S|LFNG_ENST00000359574.3_Silent_p.S178S|LFNG_ENST00000338732.3_Silent_p.S49S	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	178					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGGCGCTGTCCTGCAAGATGG	0.677000													5	27					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292964	219292964	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:219292964G>A	ENST00000248444.5	+	6	559	c.471G>A	c.(469-471)tgG>tgA	p.W157*	VIL1_ENST00000440053.1_Nonsense_Mutation_p.W157*|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	157	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGTCCTGGAAGAGTTTCA	0.562000													8	90					0	0	1	0	0
KLHL41	10324	broad.mit.edu	37	2	170367264	170367264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170367264C>T	ENST00000284669.1	+	1	1053	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TGAATGCTACCTTACTGCACT	0.433000													5	75					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685274	125685274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:125685274C>T	ENST00000371126.1	-	1	1560	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	440								p.E440*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCTTCATCTCAGGCCAGTTG	0.552000													20	63					0	0	1	0	0
TNNI3K	51086	broad.mit.edu	37	1	74957863	74957863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:74957863C>T	ENST00000370891.2	+	25	2583	c.2567C>T	c.(2566-2568)cCt>cTt	p.P856L	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.P856L|LRRC53_ENST00000294635.4_Intron|TNNI3K_ENST00000326637.3_Missense_Mutation_p.P755L	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CGGGGAGGACCTGGCCGGAGT	0.502000													18	50					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54760447	54760447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54760447G>A	ENST00000450632.1	-	3	337	c.260C>T	c.(259-261)tCc>tTc	p.S87F	LILRB5_ENST00000449561.2_Missense_Mutation_p.S87F|LILRB5_ENST00000345866.6_Missense_Mutation_p.S87F|LILRB5_ENST00000316219.5_Missense_Mutation_p.S87F			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	87	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.S87F(4)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATACACCGTGGATGGAATGTG	0.607000													23	203					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262155	158262155	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:158262155G>A	ENST00000368170.3	+	3	889	c.610_splice	c.e3+1	p.V204_splice		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	204					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ACACAGGCAAGGTCAGTAGTT	0.463000													8	138					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411090	5411090	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5411090C>T	ENST00000328611.3	+	1	484	c.462C>T	c.(460-462)gtC>gtT	p.V154V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	154						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAAGTGGTCAGAGCAGGCC	0.547000													6	163					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448685	91448685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:91448685C>T	ENST00000360468.3	+	2	355	c.337C>T	c.(337-339)Ccg>Tcg	p.P113S	MAN2A2_ENST00000559717.1_Missense_Mutation_p.P113S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	113					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCCATCTCCCCGCAGGACTG	0.657000													16	205					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257127	114257127	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:114257127C>T	ENST00000306507.5	+	1	467	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	98					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CTGCGGCGGCCTCTGAAGATG	0.682000													15	138					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16977262	16977262	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16977262G>A	ENST00000379803.1	+	13	1811	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	SIN3B_ENST00000595541.1_Silent_p.A157A|SIN3B_ENST00000248054.5_Silent_p.A567A	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	599					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGAGAAGGCGTACCTCAAGT	0.592000													13	52					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715174	165715174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:165715174C>T	ENST00000543069.1	-	2	906	c.325G>A	c.(325-327)Gac>Aac	p.D109N	C6orf118_ENST00000230301.8_Missense_Mutation_p.D213N			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	213										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTGTACCTGTCTGCGCTGGTG	0.622000													7	66					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808509	18808509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:18808509G>A	ENST00000400664.1	+	1	1086	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	345						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCCGAAAGAGCCGCCTCC	0.677000													5	20					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64799642	64799642	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:64799642C>T	ENST00000377244.3	+	2	232	c.102C>T	c.(100-102)ttC>ttT	p.F34F	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	34	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTTCTCAGTTCATCTCAAAGA	0.552000													4	74					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026527	36026527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:36026527C>T	ENST00000373243.2	+	3	1158	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	NCDN_ENST00000356090.4_Missense_Mutation_p.R259W|NCDN_ENST00000373253.3_Missense_Mutation_p.R242W	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	259					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAATGCTACCGGGATCTGCA	0.632000													9	96					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22028661	22028661	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:22028661C>T	ENST00000261200.4	-	15	2019		c.e15-1		RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Splice_Site|ABCC9_ENST00000345162.2_Splice_Site	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTGTGACCTACAAAATAA	0.323000													7	31					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81733756	81733756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:81733756G>A	ENST00000327835.3	-	2	305	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	25						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CATGGCCAAGGAAAACACGTG	0.453000													22	111					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27528508	27528508	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:27528508C>A	ENST00000301904.3	+	6	1481	c.1461C>A	c.(1459-1461)ggC>ggA	p.G487G	SCARA3_ENST00000337221.4_Intron	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	487	Collagen-like 1.				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GAGACCCCGGCAGCTTGGGCC	0.682000													7	77					0.00198382	0.00200317	1	1	0
SLC4A8	9498	broad.mit.edu	37	12	51851302	51851302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:51851302C>T	ENST00000453097.2	+	6	959	c.742C>T	c.(742-744)Cct>Tct	p.P248S	SLC4A8_ENST00000358657.3_Missense_Mutation_p.P275S|SLC4A8_ENST00000535225.2_Missense_Mutation_p.P195S|SLC4A8_ENST00000514353.3_Missense_Mutation_p.P195S|SLC4A8_ENST00000394856.1_Missense_Mutation_p.P195S	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	248					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCAGTCTGATCCTCATTTGAT	0.393000													4	36					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981439	63981439	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:63981439C>T	ENST00000398590.3	+	12	2494	c.1941C>T	c.(1939-1941)tcC>tcT	p.S647S	ATXN7_ENST00000538065.1_Silent_p.S647S|ATXN7_ENST00000487717.1_Silent_p.S647S|ATXN7_ENST00000484332.1_Silent_p.S502S|ATXN7_ENST00000295900.6_Silent_p.S647S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	647	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GACAAGTGTCCTCTTCATCCT	0.512000													7	112					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513023	89513023	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:89513023C>T	ENST00000498435.1	-	0	266																											AGATGGGACCCCTGATTGCAA	0.493000													11	57					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29858712	29858712	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:29858712C>T	ENST00000325874.8	+	15	2105	c.1876C>T	c.(1876-1878)Ctg>Ttg	p.L626L	RAB11FIP4_ENST00000394744.2_Silent_p.L524L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	626	FIP-RBD.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCTCGCCATCCTGGACCACAA	0.567000													13	54					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966798	23966798	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:23966798G>A	ENST00000335694.4	-	3	423	c.219C>T	c.(217-219)ctC>ctT	p.L73L	GGTLC1_ENST00000286890.4_Silent_p.L73L|GGTLC1_ENST00000278765.4_Silent_p.L73L	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	73							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTTCATTATTGAGCAGGATCC	0.582000													17	91					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869913	151869913	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:151869913C>T	ENST00000329342.5	+	3	828	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	201	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGACAGGCTTCCTGATAATCA	0.557000													12	73					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458637	129458637	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:129458637C>T	ENST00000355497.5	+	8	1135	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	LMX1B_ENST00000526117.1_Silent_p.F365F|LMX1B_ENST00000425646.2_Silent_p.F342F|LMX1B_ENST00000561065.1_Silent_p.F353F|LMX1B_ENST00000373474.4_Silent_p.F372F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	349					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCGACTGCTTCCTCGGCTCCT	0.627000									Nail-Patella Syndrome				21	106					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101368623	101368623	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:101368623G>A	ENST00000392979.3	+	6	814	c.452_splice	c.e6-1	p.R151_splice	ANO4_ENST00000392977.3_Splice_Site_p.R186_splice|ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	186						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GTTCTTCCAGGAGAAAAATCT	0.468000										HNSCC(74;0.22)			4	46					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33437843	33437843	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:33437843G>A	ENST00000336431.5	-	14	1790	c.1746C>T	c.(1744-1746)acC>acT	p.T582T	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	582					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTCAAGGTCAGGACAT	0.597000													10	46					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80845037	80845037	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:80845037C>T	ENST00000533983.1	+	11	1317	c.978C>T	c.(976-978)ttC>ttT	p.F326F	ARNT2_ENST00000527771.1_Silent_p.F326F|ARNT2_ENST00000303329.4_Silent_p.F337F			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	337	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CCACAGAGTTCTTATCCCGGC	0.493000													7	46					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196654241	196654241	+	Silent	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:196654241T>C	ENST00000367429.4	+	7	1078	c.838T>C	c.(838-840)Tta>Cta	p.L280L	CFH_ENST00000439155.2_Silent_p.L280L|CFH_ENST00000359637.2_Silent_p.L216L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	280	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACTCACCTTTAAGGATTAA	0.348000													3	10					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92949065	92949065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:92949065C>T	ENST00000532405.1	+	13	1523	c.1297C>T	c.(1297-1299)Ctc>Ttc	p.L433F	SLC24A4_ENST00000298877.1_Missense_Mutation_p.L416F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.L414F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.L369F|SLC24A4_ENST00000351924.5_Missense_Mutation_p.L397F			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	433						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CACCTGGCCCCTCATCTTCCT	0.582000													11	107					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839781	62839781	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:62839781G>A	ENST00000536311.1	+	7	1596	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.G411E			Q01538	MYT1_HUMAN	myelin transcription factor 1	411					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGGGCCTGGGAGAGCCAGGG	0.652000													5	25					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45774547	45774547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr21:45774547C>T	ENST00000397928.1	+	2	627	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TRPM2_ENST00000300482.5_Missense_Mutation_p.S61L|TRPM2_ENST00000397932.2_Missense_Mutation_p.S61L|TRPM2_ENST00000300481.9_Missense_Mutation_p.S61L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCTCAGTTCGTGGATTCCT	0.458000													11	77					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141920	54141920	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:54141920G>A	ENST00000265572.3	-	4	1377	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V	OPRK1_ENST00000520287.1_Silent_p.V360V|RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.V271V	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	360					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CTGTATTTCGGACTCTGCTAG	0.483000													6	29					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286868	55286868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:55286868G>A	ENST00000336077.6	+	4	662	c.622G>A	c.(622-624)Gag>Aag	p.E208K	KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E208K|KIR2DL3_ENST00000434419.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	208					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)		CTCTCCATACGAGTGGTCAAA	0.552000													24	152					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170068592	170068592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:170068592G>A	ENST00000263816.3	-	37	6451	c.6166C>T	c.(6166-6168)Cgg>Tgg	p.R2056W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2056	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GAGCAGGACCGATTATCAGGA	0.448000													5	29					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35801017	35801017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:35801017G>A	ENST00000361922.4	+	8	1622	c.1472G>A	c.(1471-1473)aGg>aAg	p.R491K	MAG_ENST00000537831.2_Missense_Mutation_p.R466K|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000392213.3_Missense_Mutation_p.R491K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	491	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCACCGCGAGGAACCTCTAT	0.697000													6	62					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346491	50346491	+	Missense_Mutation	SNP	C	C	T	rs142435125	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50346491C>T	ENST00000338821.5	-	2	359	c.95G>A	c.(94-96)gGt>gAt	p.G32D	ATP9A_ENST00000402822.1_Missense_Mutation_p.G32D|ATP9A_ENST00000311637.5_Missense_Mutation_p.G17D|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	32					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCCCCTCCACCGCAGCATCT	0.597000													18	111					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9083006	9083006	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9083006G>A	ENST00000400906.1	-	3	281	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	94						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGGCCCACGAGCAATGACC	0.537000													6	149					0	0	1	0	0
DLX4	1748	broad.mit.edu	37	17	48050405	48050405	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48050405C>T	ENST00000411890.2	+	1	276	c.36C>T	c.(34-36)ctC>ctT	p.L12L	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	79				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GCTCCCTCCTCGCCCCCTACA	0.627000													6	44					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57113290	57113290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:57113290G>A	ENST00000454682.1	-	3	2305	c.2024C>T	c.(2023-2025)cCt>cTt	p.P675L	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTAGAAAAGGGCTGGCTGT	0.478000			T	BCL6	NHL								5	49					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45895749	45895749	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:45895749G>A	ENST00000007414.3	-	7	675	c.484C>T	c.(484-486)Cct>Tct	p.P162S	OSBPL7_ENST00000392507.3_Missense_Mutation_p.P162S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	162					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGCACCAGGAACCTGTGGG	0.607000													8	86					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531867	50531867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50531867C>T	ENST00000374144.3	+	3	1565	c.1277C>T	c.(1276-1278)gCt>gTt	p.A426V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A426V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	426										endometrium(1)	1						GAAAACAATGCTCTTGACCTG	0.463000													8	76					0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76867038	76867038	+	Silent	SNP	G	G	A	rs138408968		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76867038G>A	ENST00000262768.7	-	3	580	c.282C>T	c.(280-282)tcC>tcT	p.S94S	TIMP2_ENST00000586057.1_Silent_p.S17S|TIMP2_ENST00000536189.2_Silent_p.S17S|TIMP2_ENST00000585421.1_Silent_p.S17S	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	94	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			ACACTGCCGAGGAGGGGGCCG	0.542000													17	127					0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18538197	18538197	+	Silent	SNP	C	C	T	rs150017206		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18538197C>T	ENST00000270061.6	+	2	316	c.96C>T	c.(94-96)atC>atT	p.I32I	SSBP4_ENST00000348495.5_Silent_p.I32I	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	32	LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						TGCTGCACATCGGTGCCCAGA	0.637000													14	34					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133920583	133920583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:133920583C>T	ENST00000220616.4	+	18	4040	c.4000C>T	c.(4000-4002)Cag>Tag	p.Q1334*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1334*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1334					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCCAGATCCAGGTACATGC	0.562000													6	42					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28880827	28880827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:28880827G>A	ENST00000282397.4	-	29	4054	c.3803C>T	c.(3802-3804)tCg>tTg	p.S1268L	FLT1_ENST00000540678.1_Missense_Mutation_p.S486L|FLT1_ENST00000543394.1_Missense_Mutation_p.S291L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1268					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532000													5	51					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64879230	64879230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:64879230C>T	ENST00000555709.1	+	4	614	c.227C>T	c.(226-228)aCc>aTc	p.T76I	MTHFD1_ENST00000555252.1_Missense_Mutation_p.T56I|MTHFD1_ENST00000216605.7_Missense_Mutation_p.T132I|MTHFD1_ENST00000545908.1_Missense_Mutation_p.T132I	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	76	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCAAGAACAACCACAGAATCT	0.423000													7	34					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899670	45899670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:45899670G>A	ENST00000418234.2	-	5	815	c.737C>T	c.(736-738)cCt>cTt	p.P246L	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P246L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	246	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCTTTCGGAGGCCGCCGGCG	0.657000													12	66					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675509	102675509	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:102675509C>T	ENST00000335263.5	+	3	1082	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	WDR20_ENST00000342702.3_Silent_p.F334F|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Silent_p.F273F|WDR20_ENST00000556511.2_Silent_p.F273F|WDR20_ENST00000545563.1_Silent_p.F161F|WDR20_ENST00000499851.2_Silent_p.F77F|WDR20_ENST00000454394.2_Silent_p.F365F|WDR20_ENST00000424963.2_Silent_p.F210F	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	334										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATGAGGACTTCCAAGACCTTC	0.502000													8	50					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104773269	104773269	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:104773269G>A	ENST00000357311.3	-	12	1859	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	SRPK2_ENST00000489828.1_Missense_Mutation_p.T563I|SRPK2_ENST00000393651.3_Missense_Mutation_p.T574I	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	563	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCCGCAGGGGTGCTGTACCC	0.552000													4	4					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213024	9213024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9213024C>T	ENST00000305456.2	-	1	958	c.959G>A	c.(958-960)gGa>gAa	p.G320E		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CCTCAAGGTTCCTTTCATGTC	0.443000													4	44					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976227	46976227	+	Silent	SNP	C	C	T	rs138324077		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:46976227C>T	ENST00000371956.4	+	2	264	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DMBX1_ENST00000360032.3_Silent_p.L78L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	83	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCAGCAGCTCGAGGCCCTGG	0.592000													4	40					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854720	53854720	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53854720T>A	ENST00000458035.1	+	4	909	c.792T>A	c.(790-792)tgT>tgA	p.C264*	ZNF845_ENST00000595091.1_Nonsense_Mutation_p.C264*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCGTAGATGTCACACTGGCA	0.398000													4	22					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408377	47408377	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:47408377G>A	ENST00000398879.1	-	17	2232	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	TNS3_ENST00000311160.9_Silent_p.L622L|TNS3_ENST00000355730.3_Silent_p.L382L			Q68CZ2	TENS3_HUMAN	tensin 3	622						focal adhesion	protein binding	p.L622L(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCCTGGACGAGGCCAGGAT	0.667000													6	83					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102477	44102477	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:44102477C>T	ENST00000259746.9	+	2	339	c.156C>T	c.(154-156)ttC>ttT	p.F52F	TMEM63B_ENST00000323267.6_Silent_p.F52F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	52						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCATGTGCTTCCTTGTAAGTG	0.612000													11	88					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28865889	28865889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:28865889G>A	ENST00000422425.2	+	57	4350	c.4306G>A	c.(4306-4308)Gaa>Aaa	p.E1436K	AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000541605.1_Missense_Mutation_p.E412K|PLB1_ENST00000327757.5_Missense_Mutation_p.E1447K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1447	Necessary for membrane localization (By similarity).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGCCGGAGGGAAGATCCTCC	0.652000													4	12					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026158	43026158	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:43026158C>T	ENST00000161559.6	-	3	755	c.621G>A	c.(619-621)agG>agA	p.R207R	LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000599389.1_Silent_p.R207R|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Silent_p.R207R|CEACAM1_ENST00000403461.1_Silent_p.R207R|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000308072.4_Silent_p.R167R|CEACAM1_ENST00000352591.5_Silent_p.R207R|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Silent_p.R207R	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	207	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CTGTGTCATTCCTTGTGACAC	0.522000													26	159					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466082	10466082	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:10466082C>T	ENST00000382483.3	-	4	5749	c.5526G>A	c.(5524-5526)ggG>ggA	p.G1842G		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1842					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)		GCTGGGCCTCCCCTTCAGCCT	0.627000													21	186					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86453318	86453318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:86453318C>T	ENST00000370571.2	-	20	2696	c.2330G>A	c.(2329-2331)gGg>gAg	p.G777E	COL24A1_ENST00000436319.1_Missense_Mutation_p.G777E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	777	Collagen-like 4.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCAGGAATCCCAATATCTCC	0.348000													3	8					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878184	2878184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:2878184C>T	ENST00000586426.1	+	4	1312	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	ZNF556_ENST00000307635.2_Missense_Mutation_p.L410F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGGCGGGCTTTGCTCTTC	0.453000													5	113					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611856	42611856	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:42611856G>A	ENST00000276410.2	-	5	841	c.486C>T	c.(484-486)atC>atT	p.I162I	CHRNA6_ENST00000534622.1_Silent_p.I147I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	162						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGAAAAAGGTGATATCCATAG	0.378000													5	75					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241463769	241463769	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241463769G>A	ENST00000391987.1	-	8	1464	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	ANKMY1_ENST00000401804.1_Silent_p.I455I|ANKMY1_ENST00000406958.1_Silent_p.I225I|ANKMY1_ENST00000373318.2_Silent_p.I225I|ANKMY1_ENST00000361678.4_Silent_p.I225I|ANKMY1_ENST00000405523.3_Silent_p.I225I|ANKMY1_ENST00000403283.1_Silent_p.I304I|ANKMY1_ENST00000272972.3_Silent_p.I366I|ANKMY1_ENST00000373320.4_Silent_p.I136I|ANKMY1_ENST00000536462.1_Silent_p.I178I|ANKMY1_ENST00000405002.1_Silent_p.I136I			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	366							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ATGATGAAAGGATTGGAACAA	0.448000													6	49					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6205193	6205193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:6205193C>T	ENST00000350796.3	-	11	1091	c.955G>A	c.(955-957)Gag>Aag	p.E319K	CYTH3_ENST00000396741.2_Missense_Mutation_p.E234K	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	320	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGGGGTCCTCCACCTCCCTG	0.612000													24	84					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363980	79363980	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:79363980G>A	ENST00000444841.1	-	0	358																											TTTAATCAGCGAAGCCACAAA	0.512000													5	26					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4741596	4741596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:4741596C>T	ENST00000354582.6	+	35	4857	c.4507C>T	c.(4507-4509)Ccc>Tcc	p.P1503S	ITPR1_ENST00000423119.2_Missense_Mutation_p.P1494S|ITPR1_ENST00000357086.4_Missense_Mutation_p.P1494S|ITPR1_ENST00000302640.8_Missense_Mutation_p.P1488S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.P1479S|ITPR1_ENST00000443694.2_Missense_Mutation_p.P1488S			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1503					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTCAGCTCTCCCTTCTCAGA	0.438000													6	37					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727195	137727195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:137727195C>T	ENST00000314358.5	+	8	2074	c.1874C>T	c.(1873-1875)cCc>cTc	p.P625L	KDM3B_ENST00000394866.1_Missense_Mutation_p.P281L|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	625					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTTTTACAGCCCCCCAAATTG	0.498000													6	87					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492407	73492407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:73492407C>T	ENST00000314256.7	+	24	3492	c.3098C>T	c.(3097-3099)aCc>aTc	p.T1033I	KIAA0195_ENST00000375248.5_Missense_Mutation_p.T1043I|KIAA0195_ENST00000579208.1_Missense_Mutation_p.T684I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1033					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	p.T1033I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCTGGGAGACCTTTGGCTAC	0.627000													16	42					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189868765	189868765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:189868765C>T	ENST00000304636.3	+	39	2889	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	907	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCCCCCAGGTCCTGCGGGTAA	0.547000													5	20					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39162599	39162599	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:39162599C>T	ENST00000301819.6	+	9	1213	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	TTC21A_ENST00000440121.1_Silent_p.L297L|TTC21A_ENST00000431162.2_Silent_p.L346L	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	346							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTTCATCCTGAAGAACCA	0.517000													5	47					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242004955	242004955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242004955G>A	ENST00000310397.8	+	21	2954	c.2954G>A	c.(2953-2955)cGa>cAa	p.R985Q	SNED1_ENST00000405547.3_Missense_Mutation_p.R985Q|SNED1_ENST00000342631.6_Missense_Mutation_p.R985Q|SNED1_ENST00000401884.1_Missense_Mutation_p.R985Q	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	985	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAGTGAAGCGAAACAGTAAC	0.657000													4	41					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64636703	64636703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:64636703C>T	ENST00000498707.1	-	9	1795	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.E485K|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.E457K	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	485	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCTAAAAACTCAGTGATATAT	0.408000													15	250					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112171746	112171746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:112171746C>T	ENST00000455480.2	+	12	1684	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.H472Y|ACAD10_ENST00000549590.1_Missense_Mutation_p.H472Y|ACAD10_ENST00000392636.2_Missense_Mutation_p.H74Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	472							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCTGGTGTTTCATCCAGAAGA	0.537000													9	76					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407222	50407222	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:50407222G>A	ENST00000217086.4	-	2	1911	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	600					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGCTCGGCCACAGATCT	0.517000													4	57					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:28914725G>A	ENST00000395503.4	+	21	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	ATP2A1_ENST00000357084.3_Missense_Mutation_p.E982K|ATP2A1_ENST00000536376.1_Missense_Mutation_p.E857K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	982					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000													15	53					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790850	143790850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:143790850C>T	ENST00000264170.4	+	12	1259	c.1001C>T	c.(1000-1002)cCt>cTt	p.P334L	KYNU_ENST00000409512.1_Missense_Mutation_p.P334L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	334					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTCAAATCCTCCCATTTTG	0.378000													18	95					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293760	167293760	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:167293760C>T	ENST00000308378.3	-	4	737	c.432G>A	c.(430-432)gtG>gtA	p.V144V	WDR49_ENST00000479765.1_Silent_p.V485V|WDR49_ENST00000453925.2_Silent_p.V197V	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	144										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATGGCTTTTCACCCTCTTGC	0.403000													8	41					0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16748449	16748449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:16748449G>A	ENST00000335496.1	-	4	534	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	18							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGCAGGAAGGGGTTGACTGTC	0.587000													22	170					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884435	24884435	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:24884435C>T	ENST00000382554.3	+	9	3798	c.3480C>T	c.(3478-3480)ttC>ttT	p.F1160F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1160					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						AGCTGCCCTTCCGCCTGGAGG	0.647000													4	56					0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52696664	52696664	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:52696664C>T	ENST00000370989.1	-	7	809	c.651G>A	c.(649-651)agG>agA	p.R217R	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Silent_p.R217R			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	217					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGAAAATCTTCCTTGCTTCTT	0.438000													4	64					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37172795	37172795	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:37172795C>T	ENST00000310758.4	-	14	1778	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	ELMO1_ENST00000442504.1_Silent_p.G377G|ELMO1_ENST00000341056.3_Silent_p.G79G|ELMO1_ENST00000448602.1_Silent_p.G377G	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	377	ELMO.				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						GAGCCAACATCCCAGGTGGAG	0.453000													11	54					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2592920	2592920	+	Silent	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:2592920C>A	ENST00000358864.1	+	13	1692	c.1677C>A	c.(1675-1677)gtC>gtA	p.V559V	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	559						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACGAGAGTGTCCCCCGACCAC	0.493000													6	47					8.12818e-05	8.23309e-05	1	1	0
COX8A	1351	broad.mit.edu	37	11	63743713	63743713	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:63743713T>C	ENST00000314133.3	+	2	205	c.131T>C	c.(130-132)cTt>cCt	p.L44P	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	44					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										GCCGTTGGGCTTACCTCCTGC	0.572000													22	177					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173425	51173425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:51173425G>A	ENST00000440970.1	-	2	2848	c.2417C>T	c.(2416-2418)tCc>tTc	p.S806F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S903F|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	903					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCACTGAGGATGAATCATT	0.562000													4	45					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098438	144098438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:144098438C>T	ENST00000467773.1	-	4	544	c.545G>A	c.(544-546)gGg>gAg	p.G182E	NOBOX_ENST00000223140.5_Missense_Mutation_p.G97E|NOBOX_ENST00000483238.1_Missense_Mutation_p.G182E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	182					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					ACAATCTTCCCCCTGAGTCTG	0.622000													4	25					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073120	34073120	+	Missense_Mutation	SNP	C	C	T	rs139624793	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:34073120C>T	ENST00000254466.6	-	6	1423	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	GAS2L2_ENST00000587565.1_Missense_Mutation_p.E450K	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	466					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCAGGCACTCGGCTGGGCCA	0.622000													9	109					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907695	103907695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:103907695C>T	ENST00000302259.3	+	1	388	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	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)	49	Ubiquitin-like.				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)		CCAGATCATCCACATGGAGCG	0.562000													8	89					0	0	1	0	0
FN3KRP	79672	broad.mit.edu	37	17	80684936	80684936	+	Silent	SNP	C	C	T	rs148008327	by1000genomes	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:80684936C>T	ENST00000269373.6	+	6	892	c.819C>T	c.(817-819)ttC>ttT	p.F273F	FN3KRP_ENST00000535965.1_Silent_p.F223F	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	273							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCCCAGGATTCGAGAAGCGCC	0.512000													13	90					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2071212	2071212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:2071212G>A	ENST00000262113.4	+	29	3682	c.3541G>A	c.(3541-3543)Gga>Aga	p.G1181R	MYOM2_ENST00000523438.1_Missense_Mutation_p.G606R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1181	Ig-like C2-type 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTGGAGAGGGGAATCTGTGA	0.423000													5	42					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44048887	44048887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:44048887G>A	ENST00000300289.5	+	3	435	c.287G>A	c.(286-288)gGa>gAa	p.G96E	PDIA3_ENST00000538521.1_Missense_Mutation_p.G76E|PDIA3_ENST00000469684.1_3'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	96	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AATAAATATGGAGTCAGTGGA	0.393000													6	62					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98608764	98608764	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:98608764C>T	ENST00000359863.4	+	70	11195	c.10986C>T	c.(10984-10986)gcC>gcT	p.A3662A	TRRAP_ENST00000355540.3_Silent_p.A3633A|TRRAP_ENST00000446306.3_Silent_p.A3651A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3662	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCCAATGCCACGGACTACT	0.552000													12	54					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788371	10788371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:10788371C>T	ENST00000283025.2	-	1	431	c.360G>A	c.(358-360)atG>atA	p.M120I		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	120					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCAAGAGCCTCATGGAGTCAT	0.657000													6	77					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115389428	115389428	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:115389428C>T	ENST00000369358.4	-	19	2227	c.1983G>A	c.(1981-1983)agG>agA	p.R661R	NRAP_ENST00000359988.3_Silent_p.R653R|NRAP_ENST00000360478.3_Silent_p.R618R|NRAP_ENST00000369360.3_Silent_p.R626R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	653						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCAGTTTCTTCCTGTAGTCCA	0.507000													4	51					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155156339	155156339	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:155156339C>T	ENST00000368382.1	+	10	2021	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	TRIM46_ENST00000545012.1_Silent_p.F525F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Silent_p.F651F|TRIM46_ENST00000392451.2_3'UTR	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	651	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCACCCTTCGCTTTCCTAA	0.647000													6	89					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115291	57115291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:57115291G>A	ENST00000398179.2	-	5	488	c.26C>T	c.(25-27)tCa>tTa	p.S9L	CCBE1_ENST00000439986.4_Silent_p.I233I			Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	0					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGTCACCAGTGATATACTTGC	0.597000													6	56					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41056227	41056227	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:41056227G>A	ENST00000352632.3	+	22	4754	c.4668G>A	c.(4666-4668)aaG>aaA	p.K1556K	SPTBN4_ENST00000392025.1_Silent_p.K299K|SPTBN4_ENST00000392023.1_Silent_p.K232K|SPTBN4_ENST00000598249.1_Silent_p.K1556K|SPTBN4_ENST00000595535.1_Silent_p.K1556K|SPTBN4_ENST00000338932.3_Silent_p.K1556K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1556					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACATCAAAAAGAACCAGGTGA	0.522000													4	56					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33333180	33333180	+	Missense_Mutation	SNP	G	G	A	rs143618205		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:33333180G>A	ENST00000023064.4	-	11	1309	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	SLC7A9_ENST00000587772.1_Missense_Mutation_p.S373L|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S373L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	373					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.S373L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATTGACTAACGAGTTTATGTC	0.398000													5	62					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260065	44260065	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:44260065G>A	ENST00000315087.7	-	7	1731	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ST8SIA5_ENST00000536490.1_Silent_p.F326F|ST8SIA5_ENST00000538168.1_Silent_p.F393F|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	357					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCAAGTGCAGGAAGTTGAAGA	0.642000													4	73					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102738913	102738913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:102738913G>A	ENST00000210633.3	+	8	946	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.A290T|SEMA4G_ENST00000370250.4_Missense_Mutation_p.A290T|MRPL43_ENST00000318325.2_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	290	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTTCCTGAAAGCCCGTCTCAT	0.567000													13	67					0	0	1	0	0
MIR516B1	574490	broad.mit.edu	37	19	54240169	54240169	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:54240169C>T	ENST00000385211.1	+	0	71					NR_030212.1																						TGCTTCCTTTCAGAGGGTTAC	0.423000													5	49					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	619195	619195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:619195C>T	ENST00000264935.5	+	2	263	c.173C>T	c.(172-174)tCt>tTt	p.S58F	CEP72_ENST00000444221.1_Missense_Mutation_p.S58F	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	58					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTCTGAAATCTTTGGATCTC	0.408000													7	90					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157488278	157488278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:157488278C>T	ENST00000361835.3	-	15	2910	c.2753G>A	c.(2752-2754)aGa>aAa	p.R918K	FCRL5_ENST00000356953.4_Missense_Mutation_p.R918K|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	918						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ATTTTCTCCTCTAGGATTTGC	0.448000													12	82					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179696	59179696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:59179696G>A	ENST00000380516.2	-	18	2506	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	SLTM_ENST00000536328.1_Missense_Mutation_p.P376S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	807	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTGCAGTAGGTCGTGCTTTT	0.418000													5	74					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289618	7289618	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:7289618C>T	ENST00000537408.1	+	6	1696	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CLSTN3_ENST00000266546.6_Silent_p.F374F			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	374					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTGACCACTTCACCCTGTCCT	0.592000													6	53					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:179568878G>A	ENST00000589042.1	-	106	30443	c.30219C>T	c.(30217-30219)atC>atT	p.I10073I	TTN_ENST00000591111.1_Silent_p.I9756I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9756	Glu-rich.						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)			ACGCACCTTCGATTCTGAGTT	0.468000													13	99					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94410215	94410215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:94410215G>A	ENST00000260731.3	+	21	3070	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	994					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTAAGTCAAGAGCCATCTGT	0.438000													23	283					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20986562	20986562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20986562C>T	ENST00000261383.3	-	51	8251	c.8252G>A	c.(8251-8253)gGa>gAa	p.G2751E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2751	Stalk (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)		TACCTTGATTCCTTGGGCAAT	0.473000													19	147					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564129	58564129	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:58564129C>T	ENST00000348616.4	+	9	1494	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	CDH26_ENST00000244047.5_Silent_p.P398P	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	398	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCTTTCACCCCCAGAGCTTCA	0.562000													29	263					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956541	32956541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:32956541C>T	ENST00000399302.2	+	4	3685	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	QSER1_ENST00000527788.1_Missense_Mutation_p.S878F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1117										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTCCTCCTTCCTCAGAAAGC	0.418000													4	45					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517001	195517001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:195517001C>T	ENST00000463781.3	-	2	1909	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	MUC4_ENST00000475231.1_Missense_Mutation_p.E484K|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	489					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTTGTTTCATGTAGAGTA	0.493000													15	102					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108816	75108816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:75108816G>A	ENST00000309664.5	+	3	518	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G127R	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	127	L-type lectin-like.					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						TGTCCTTGGGGGGCTGGCTTC	0.667000													10	114					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33137636	33137636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:33137636G>A	ENST00000341947.2	-	50	3889	c.3662C>T	c.(3661-3663)cCa>cTa	p.P1221L	COL11A2_ENST00000374714.1_Missense_Mutation_p.P1195L|COL11A2_ENST00000374708.4_Missense_Mutation_p.P1135L|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1140L|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1114L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.P1161L|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1174L|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1200L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1221	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGATCCCTGGAGATCCTGA	0.547000													10	76					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160673464	160673464	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:160673464T>A	ENST00000263636.4	-	30	4260	c.4233A>T	c.(4231-4233)aaA>aaT	p.K1411N	LY75_ENST00000554112.1_Missense_Mutation_p.K1411N|LY75_ENST00000553424.1_Missense_Mutation_p.K1411N|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K1411N|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K1411N	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATGTTACCTTTTTTTGAATAA	0.353000													5	47					0	0	1	0	0
TRBV7-4	28594	broad.mit.edu	37	7	142176545	142176545	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:142176545G>A	ENST00000390369.2	-	0	130																											ACCCGAAATTGAATCACACCT	0.507000													7	24					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218682840	218682840	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:218682840G>A	ENST00000171887.4	-	24	4355	c.3903C>T	c.(3901-3903)ggC>ggT	p.G1301G	TNS1_ENST00000430930.1_Silent_p.G1280G|TNS1_ENST00000419504.1_Silent_p.G1288G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1301						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGAGGTGACGGCCCAGGCTGG	0.657000													4	40					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283027	152283027	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:152283027C>T	ENST00000368799.1	-	3	4370	c.4335G>A	c.(4333-4335)gtG>gtA	p.V1445V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1445	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.V1445V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGAGCTCACCTGGTAGA	0.587000									Ichthyosis				16	139					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31839332	31839332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31839332C>T	ENST00000544672.1	-	8	604	c.308G>A	c.(307-309)gGg>gAg	p.G103E	SLC44A4_ENST00000375562.4_Missense_Mutation_p.G137E|SLC44A4_ENST00000229729.6_Missense_Mutation_p.G179E	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	179						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAAGCAGCGCCCCAGAGCTGG	0.662000													16	109					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777262	60777262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60777262G>A	ENST00000313421.7	+	5	1186	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	CD6_ENST00000452451.2_Missense_Mutation_p.E334K|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Missense_Mutation_p.E334K|CD6_ENST00000352009.5_Missense_Mutation_p.E334K|CD6_ENST00000344028.5_Missense_Mutation_p.E334K	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	334	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAATGGGGAGGAGCTCACCCT	0.617000													8	39					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268568	1268568	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:1268568G>A	ENST00000447027.1	+	31	10525	c.10467G>A	c.(10465-10467)gaG>gaA	p.E3489E	MUC5B_ENST00000529681.1_Silent_p.E3486E|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3486	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		ACATCACAGAGCCTTCCACGG	0.672000													5	82					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546825	74546825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:74546825C>T	ENST00000299563.4	+	6	1190	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	393							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ATGTACTCCTCCCAAGAGACT	0.502000													4	77					0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370400	50370400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50370400G>A	ENST00000322344.3	-	2	171	c.62C>T	c.(61-63)cCc>cTc	p.P21L	PNKP_ENST00000600910.1_Missense_Mutation_p.P21L|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Missense_Mutation_p.P21L|PNKP_ENST00000596014.1_Missense_Mutation_p.P21L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	21					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CAGGAAGATGGGGGGCGCTCC	0.711000								Other BER factors					11	41					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142200475	142200475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:142200475G>A	ENST00000519811.1	+	20	3408	c.3338G>A	c.(3337-3339)gGc>gAc	p.G1113D	DENND3_ENST00000262585.2_Missense_Mutation_p.G1033D|DENND3_ENST00000424248.1_Missense_Mutation_p.G981D|DENND3_ENST00000523308.1_Missense_Mutation_p.G83D			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	1033										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCGAGGTGGCCTGACGTCC	0.647000													14	43					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897307	6897307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:6897307C>T	ENST00000312053.4	+	4	423	c.386C>T	c.(385-387)tCc>tTc	p.S129F	EMR1_ENST00000250572.8_Missense_Mutation_p.S129F|EMR1_ENST00000381404.4_Intron|EMR1_ENST00000450315.3_Missense_Mutation_p.S129F|EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	129	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GGCAATTTCTCCTGTACTGGT	0.493000													5	28					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043636	20043636	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:20043636G>A	ENST00000570682.1	-	2	783	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	161						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGTAATAGGGGATGCTGGTCA	0.547000													8	51					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170468	77170468	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:77170468C>T	ENST00000253506.5	+	2	562	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	NFATC1_ENST00000591814.1_Silent_p.L65L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000587635.1_Silent_p.L65L|NFATC1_ENST00000318065.5_Silent_p.L52L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000427363.2_Silent_p.L65L|NFATC1_ENST00000542384.1_Silent_p.L65L|NFATC1_ENST00000592223.1_Silent_p.L52L|NFATC1_ENST00000586434.1_Silent_p.L52L|NFATC1_ENST00000329101.4_Silent_p.L52L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	65					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCACTCCACCCTGCCGGCCCC	0.657000													9	98					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28196950	28196950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28196950G>A	ENST00000354638.3	-	18	2086	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	OCA2_ENST00000353809.5_Missense_Mutation_p.P620L|OCA2_ENST00000382996.2_Missense_Mutation_p.P644L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	644					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGAATGCCAGGGACAAACGA	0.438000									Oculocutaneous Albinism				4	17					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42161681	42161681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:42161681C>T	ENST00000379310.3	-	42	5306	c.5238G>A	c.(5236-5238)atG>atA	p.M1746I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CGAAGGCTTCCATGACCATAC	0.483000													5	30					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31137780	31137780	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:31137780G>A	ENST00000538351.1	-	7	2161	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	ZNF438_ENST00000442986.1_Silent_p.F518F|ZNF438_ENST00000361310.3_Silent_p.F518F|ZNF438_ENST00000413025.1_Silent_p.F518F|ZNF438_ENST00000375311.1_Silent_p.F82F|ZNF438_ENST00000452305.1_Silent_p.F508F|ZNF438_ENST00000331737.6_Silent_p.F508F|ZNF438_ENST00000444692.2_Silent_p.F508F|ZNF438_ENST00000436087.2_Silent_p.F518F	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTGCTGTTTGAACTGGAAGT	0.512000													14	171					0	0	1	0	0
MAN1A2	10905	broad.mit.edu	37	1	117910832	117910832	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:117910832C>T	ENST00000356554.3	+	1	762	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MAN1A2_ENST00000482811.1_3'UTR	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	9					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGCTGCCCCTCTCTGGACGTA	0.463000													7	117					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48704023	48704023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:48704023C>T	ENST00000352832.5	+	34	7036	c.6664C>T	c.(6664-6666)Cct>Tct	p.P2222S	CACNA1G_ENST00000510366.1_Missense_Mutation_p.P2204S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P2199S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P2215S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P2278S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P2166S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2304S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P2249S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2338S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P2233S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P2231S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P2143S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2293S|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2349S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P2177S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P2263S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P2211S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P2238S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P2245S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P2259S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2286S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2315S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P2270S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P2256S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P2222S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2349					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTGGCCCCCCTGACAGCAT	0.657000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	52					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36580017	36580017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:36580017G>A	ENST00000431169.1	-	16	1514	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	AOAH_ENST00000258749.5_Missense_Mutation_p.S405F|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.S373F|AOAH_ENST00000538464.1_Missense_Mutation_p.S127F	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	405					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.S405F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGGCAGGTGGGAATTTAGATG	0.463000													7	33					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151308	139151308	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:139151308G>A	ENST00000395297.1	-	18	3992	c.3822C>T	c.(3820-3822)tcC>tcT	p.S1274S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1274										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)			GTAGAGACCCGGATTTCTTCA	0.403000										HNSCC(54;0.14)			6	64					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169206001	169206001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:169206001C>T	ENST00000393743.3	-	12	1822	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	511							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTGTCATAATCATCACTCAGG	0.368000													4	32					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756380	32756380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:32756380C>T	ENST00000249007.4	+	2	720	c.515C>T	c.(514-516)tCc>tTc	p.S172F	RFPL3_ENST00000382088.3_Missense_Mutation_p.S143F|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.S143F	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	172	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATCCTGGGCTCCCCTCGCTTT	0.567000													7	84					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38729526	38729526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:38729526G>A	ENST00000359357.3	+	9	1167	c.913G>A	c.(913-915)Gga>Aga	p.G305R	DNAH8_ENST00000449981.2_Missense_Mutation_p.G522R|DNAH8_ENST00000441566.1_Missense_Mutation_p.G305R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACTGATGGAGGATTAAACCA	0.289000													4	13					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059060	248059060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:248059060C>T	ENST00000537741.1	+	3	429	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	OR2W3_ENST00000360358.3_Missense_Mutation_p.P58S			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTCCACACCCCCATGTACTT	0.572000													15	127					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324817	3324817	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:3324817C>T	ENST00000291231.1	+	1	956	c.956C>T	c.(955-957)tCa>tTa	p.S319L		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GGGAAGCGATCACTGACCTGA	0.453000													14	52					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741629	52741629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr14:52741629C>T	ENST00000306051.2	+	2	1129	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	343						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATTAGACCTCTTAGGTACAG	0.388000													4	9					0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26687822	26687822	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26687822C>T	ENST00000292114.3	+	5	573	c.483C>T	c.(481-483)ttC>ttT	p.F161F	CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.F161F|TMEM199_ENST00000395404.3_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	161						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TTGCTGCCTTCGTCTGCACTT	0.527000													7	91					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148947810	148947810	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:148947810C>T	ENST00000335870.2	+	3	581	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	151	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.T151T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TCTGTTTCACCGAGCAGGAAT	0.498000													8	105					0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15652155	15652155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:15652155C>T	ENST00000262041.5	-	3	1181	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	258					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCACCAGTTCCTTTTCCCGA	0.507000													5	67					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72903665	72903665	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:72903665C>A	ENST00000339594.4	-	6	1088	c.750G>T	c.(748-750)aaG>aaT	p.K250N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K250N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	250	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAACTATCTCCTTATTTGGTG	0.418000													4	62					0.0215528	0.0217323	1	1	0
RTFDC1	51507	broad.mit.edu	37	20	55093181	55093181	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:55093181C>T	ENST00000023939.4	+	9	888	c.781C>T	c.(781-783)Ccg>Tcg	p.P261S	GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR|RTFDC1_ENST00000395881.3_3'UTR|RTFDC1_ENST00000357348.5_Missense_Mutation_p.P291S	NM_016407.3	NP_057491.2			replication termination factor 2 domain containing 1																		TGGGAAGCCTCCGTGTGGAGC	0.498000													9	60					0	0	1	0	0
NFAM1	150372	broad.mit.edu	37	22	42782999	42782999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:42782999G>A	ENST00000329021.5	-	5	786	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	250					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						GTGTACCTGGGAGAGGGGGCT	0.627000													11	108					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43122227	43122227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:43122227G>A	ENST00000267890.6	-	5	449	c.341C>T	c.(340-342)aCc>aTc	p.T114I	TTBK2_ENST00000567840.1_Missense_Mutation_p.T114I|TTBK2_ENST00000567274.1_Missense_Mutation_p.T114I	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	114	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGTACTAATGGTGAATGTGCC	0.443000													4	32					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11511593	11511593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:11511593C>T	ENST00000262442.3	+	2	633	c.565C>T	c.(565-567)Cca>Tca	p.P189S	DNAH9_ENST00000579828.1_Missense_Mutation_p.P189S|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P189S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	189	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGCCTCTTCCAGCAGGCTC	0.507000													8	85					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:7586077C>T	ENST00000379802.3	+	24	8923	c.8582C>T	c.(8581-8583)tCc>tTc	p.S2861F	DSP_ENST00000418664.2_Missense_Mutation_p.S2262F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483000													29	117					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891091	2891091	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:2891091C>T	ENST00000254528.3	+	4	1125	c.966C>T	c.(964-966)atC>atT	p.I322I		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	322					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACAGTAAGATCGACGCCCTGA	0.562000													5	78					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513786	165513786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:165513786C>T	ENST00000294818.1	+	1	543	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	85						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTTGGACTGTCAGAACAACCG	0.493000													26	118					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72859054	72859054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:72859054G>A	ENST00000442102.2	-	12	1576	c.1490C>T	c.(1489-1491)tCt>tTt	p.S497F	FDXR_ENST00000413947.2_Missense_Mutation_p.S485F|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000581530.1_Missense_Mutation_p.S460F|FDXR_ENST00000582944.1_Missense_Mutation_p.S446F|FDXR_ENST00000420580.2_Missense_Mutation_p.S414F|FDXR_ENST00000293195.5_Missense_Mutation_p.S454F|FDXR_ENST00000583917.1_Missense_Mutation_p.S426F|FDXR_ENST00000544854.1_Missense_Mutation_p.S402F	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	454					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GTCTGAGAAAGAGACTGGCCG	0.632000													4	53					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	3681648	3681648	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:3681648G>A	ENST00000404826.2	+	4	763	c.624G>A	c.(622-624)gcG>gcA	p.A208A	SDK1_ENST00000389531.3_Silent_p.A208A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	208	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACGTGCAGCGATTCTAAACC	0.438000													5	36					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61672311	61672311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61672311G>A	ENST00000394836.2	-	6	858	c.701C>T	c.(700-702)tCc>tTc	p.S234F	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.S208F	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	234							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						CAGGGTGGGGGATTCCCTCCA	0.632000													9	70					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3236010	3236010	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:3236010C>T	ENST00000217939.6	-	6	5866	c.5712G>A	c.(5710-5712)cgG>cgA	p.R1904R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1904	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAACCTCAAACCGTTGTATCC	0.473000													4	20					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838860	100838860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:100838860C>T	ENST00000369208.3	-	12	2460	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	SIM1_ENST00000262901.4_Missense_Mutation_p.E560K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	560	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGCTGGGTTCATGTGGGCTA	0.463000													8	40					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100341	160100341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:160100341C>T	ENST00000361216.3	+	13	1870	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.A594V	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	594					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTCCCCGGGCTGCTGTGCCA	0.567000													7	52					0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50614589	50614589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50614589C>T	ENST00000232854.4	+	5	1073	c.521C>T	c.(520-522)tCc>tTc	p.S174F	HEMK1_ENST00000455834.1_Missense_Mutation_p.S174F|HEMK1_ENST00000434410.1_Missense_Mutation_p.S174F	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	174					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GGAGCCATCTCCCTCAGCCTG	0.632000													5	64					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812051	109812051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:109812051C>T	ENST00000271332.3	+	21	6879	c.6818C>T	c.(6817-6819)cCc>cTc	p.P2273L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2273					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCAGAGTCCCCAAACGCCCG	0.632000													65	263					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059569	49059569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:49059569G>A	ENST00000380950.2	-	16	2297	c.2110C>T	c.(2110-2112)Ctc>Ttc	p.L704F	CEP152_ENST00000325747.5_Missense_Mutation_p.L611F|CEP152_ENST00000399334.3_Missense_Mutation_p.L704F	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	704					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCCTCAAAGAGCTGCTGCTTC	0.413000													5	28					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861663	67861663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:67861663G>A	ENST00000388833.3	+	16	2121	c.1744G>A	c.(1744-1746)Gaa>Aaa	p.E582K	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E567K|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E636K	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	582					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CAGCCATGAGGAAGTGACTCT	0.637000													4	31					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981841	63981841	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:63981841C>T	ENST00000398590.3	+	12	2896	c.2343C>T	c.(2341-2343)acC>acT	p.T781T	ATXN7_ENST00000538065.1_Silent_p.T781T|ATXN7_ENST00000487717.1_Silent_p.T781T|ATXN7_ENST00000484332.1_Silent_p.T636T|ATXN7_ENST00000295900.6_Silent_p.T781T	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	781	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCCCCCCCACCGGGAGCCCTG	0.532000													5	30					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699681	45699681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:45699681G>A	ENST00000297323.7	+	7	1370	c.1348G>A	c.(1348-1350)Ggg>Agg	p.G450R	ADCY1_ENST00000432715.1_Missense_Mutation_p.G225R	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	450					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GTGCTTGAATGGGGACTACGA	0.488000													11	62					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56535370	56535370	+	Missense_Mutation	SNP	G	G	A	rs143607562		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:56535370G>A	ENST00000245157.5	-	10	1540	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	BBS2_ENST00000568104.1_Missense_Mutation_p.R374W	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	374					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATTATGCCCCGATGCCCATCA	0.498000									Bardet-Biedl syndrome				9	74					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362256	9362256	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9362256G>T	ENST00000456448.1	+	1	651	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCACAATTTGATTATGTTAC	0.438000													8	24					3.09899e-07	3.14657e-07	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25488766	25488766	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:25488766G>A	ENST00000453082.2	+	0	2332				SNORD115-40_ENST00000606510.1_RNA	NR_003343.1																						GGGTTGGGTCGATGATGAGAA	0.517000													16	207					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388345	56388345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:56388345G>A	ENST00000355701.3	-	19	4181	c.3311C>T	c.(3310-3312)tCa>tTa	p.S1104L	BZRAP1_ENST00000268893.6_Missense_Mutation_p.S1044L|BZRAP1_ENST00000343736.4_Missense_Mutation_p.S1104L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1104	Pro-rich.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGGAGGCTGAAGCAAGGGG	0.692000													5	19					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99467231	99467231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:99467231C>T	ENST00000268035.6	+	12	3223	c.2612C>T	c.(2611-2613)tCa>tTa	p.S871L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S871L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	871	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AAATACGGATCACAAGTTGAG	0.483000													6	92					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846579	98846579	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:98846579C>T	ENST00000477737.1	+	16	2421	c.2217C>T	c.(2215-2217)gtC>gtT	p.V739V		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	739										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AATCTGATGTCGATTCAACAC	0.388000													6	44					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600013	42600013	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:42600013G>A	ENST00000389341.5	-	9	750	c.684C>T	c.(682-684)ttC>ttT	p.F228F	POU2F2_ENST00000529067.1_Silent_p.F228F|POU2F2_ENST00000342301.4_Silent_p.F244F|POU2F2_ENST00000560398.1_Silent_p.F250F|POU2F2_ENST00000560558.1_Silent_p.F189F|POU2F2_ENST00000526816.2_Silent_p.F244F|POU2F2_ENST00000533720.1_Silent_p.F228F|POU2F2_ENST00000529952.1_Silent_p.F244F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	244	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGAGGGCCTCGAAGCGGGAAA	0.622000													10	79					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762452	53762452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:53762452G>A	ENST00000341702.3	+	1	908	c.824G>A	c.(823-825)gGg>gAg	p.G275E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	275					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTGTGTCTGGGGCTCATGCTC	0.458000													6	137					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698361	48698361	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:48698361G>A	ENST00000544264.1	-	1	1987	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	CELSR3_ENST00000164024.4_Silent_p.A569A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	569	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGGTCAGTGGCCGTGACGC	0.602000													4	21					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792596	143792596	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:143792596C>T	ENST00000408949.2	+	1	456	c.396C>T	c.(394-396)acC>acT	p.T132T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGCAATACACCCTCATTATGA	0.438000													7	71					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183225904	183225904	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:183225904G>C	ENST00000341319.3	-	3	887	c.852C>G	c.(850-852)tgC>tgG	p.C284W		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	284										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AGACCTCTGGGCACTGCCTGA	0.527000													9	28					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109416618	109416618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:109416618C>T	ENST00000372073.1	+	7	1169	c.833C>T	c.(832-834)gCt>gTt	p.A278V	TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.A239V|TMEM164_ENST00000372068.2_Missense_Mutation_p.A278V|TMEM164_ENST00000372072.3_Missense_Mutation_p.A129V			Q5U3C3	TM164_HUMAN	transmembrane protein 164	278						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCATACATGGCTGGGCCCTTG	0.507000													9	31					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3329039	3329039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:3329039G>A	ENST00000378398.3	+	10	2363	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	PRDM16_ENST00000378391.2_Missense_Mutation_p.D760N|PRDM16_ENST00000511072.1_Missense_Mutation_p.D761N|PRDM16_ENST00000442529.2_Missense_Mutation_p.D760N|PRDM16_ENST00000441472.2_Missense_Mutation_p.D760N|PRDM16_ENST00000514189.1_Missense_Mutation_p.D761N|PRDM16_ENST00000270722.5_Missense_Mutation_p.D760N|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	760	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCACCCCGGGACGCCCTCAA	0.647000			T	EVI1	"""MDS, AML"""								6	78					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402786	133402786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:133402786G>A	ENST00000329321.3	+	2	1438	c.969G>A	c.(967-969)atG>atA	p.M323I	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	323						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCGTACATGATCCTCCTCC	0.587000													6	53					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490098	65490098	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:65490098G>A	ENST00000261883.4	-	9	2692	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	842					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATTTGGGTTGAATTTAGGAG	0.527000													9	88					0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50502123	50502123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr13:50502123G>A	ENST00000378195.2	-	2	459	c.205C>T	c.(205-207)Ctt>Ttt	p.L69F	SPRYD7_ENST00000361840.3_Missense_Mutation_p.L108F	NM_001127482.1	NP_001120954.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	108	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTGTGGTAAAGGGCTCCATCA	0.468000													5	44					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052707	44052707	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:44052707C>T	ENST00000306006.6	-	2	1473	c.821G>A	c.(820-822)aGg>aAg	p.R274K	ZNF239_ENST00000374446.2_Missense_Mutation_p.R274K|ZNF239_ENST00000535642.1_Missense_Mutation_p.R274K|ZNF239_ENST00000426961.1_Missense_Mutation_p.R274K	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTTGAGCTCCTGGTGAAGCC	0.502000													6	54					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606600	31606600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr20:31606600C>T	ENST00000170150.3	+	9	1022	c.827C>T	c.(826-828)gCc>gTc	p.A276V		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	276						extracellular region	lipid binding										AAGGCCGGTGCCCTCAACCTG	0.672000													11	50					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241973219	241973219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:241973219C>T	ENST00000310397.8	+	3	569	c.569C>T	c.(568-570)tCc>tTc	p.S190F	SNED1_ENST00000405547.3_Missense_Mutation_p.S190F|SNED1_ENST00000342631.6_Missense_Mutation_p.S190F|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S190F	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	190	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AACTATGAGTCCATCGTGTGG	0.632000													3	22					0	0	1	0	0
RUNX3	864	broad.mit.edu	37	1	25229042	25229042	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:25229042G>A	ENST00000399916.1	-	6	1299	c.861C>T	c.(859-861)gcC>gcT	p.A287A	RUNX3_ENST00000338888.3_Silent_p.A287A|RUNX3_ENST00000308873.6_Silent_p.A273A|RUNX3_ENST00000540420.1_Silent_p.A180A	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	273	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CAGCTGACATGGCCCCGGGAT	0.672000													24	128					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404485	61404485	+	RNA	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:61404485C>T	ENST00000496593.1	+	0	1089					NR_002775.2																						AGCTGCCACCCGTGCTGGTGC	0.562000													4	17					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317450	154317450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:154317450C>T	ENST00000368489.3	+	22	2389	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	783					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCCAGGCCCACGCACTGGA	0.582000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	94					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770135	135770135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:135770135G>A	ENST00000250617.6	-	11	2406	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.H274Y|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.H247Y|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.H247Y	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	401	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATATCCTGATGATCTGGATGA	0.378000													6	13					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196301	8196301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:8196301C>T	ENST00000162391.3	+	4	1558	c.413C>T	c.(412-414)tCc>tTc	p.S138F	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S138F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	138					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCCAGGGTTCCTATTGGACA	0.443000													18	159					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71668416	71668416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:71668416G>A	ENST00000268485.3	+	3	960	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	MARVELD3_ENST00000567501.1_3'UTR|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	306	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTGGTGACCGAAGGCTTGTT	0.587000													5	38					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831328	89831328	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89831328G>A	ENST00000389301.3	-	28	2778	c.2748C>T	c.(2746-2748)ttC>ttT	p.F916F	FANCA_ENST00000568369.1_Silent_p.F916F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	916					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACACCTCTCGGAAGGTTCTGT	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	68					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290607	132290607	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:132290607C>T	ENST00000295171.6	+	7	1110	c.972C>T	c.(970-972)ttC>ttT	p.F324F	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.F258F	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	324										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCACGCATTTCCCCAAGGTCT	0.632000													5	86					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13338323	13338323	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:13338323C>T	ENST00000360228.5	-	37	5546	c.5547G>A	c.(5545-5547)ctG>ctA	p.L1849L	CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1850					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GATACATGTCCAGGTAAGGCA	0.498000													8	79					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30736210	30736210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:30736210C>T	ENST00000262518.4	+	25	5850	c.5465C>T	c.(5464-5466)tCc>tTc	p.S1822F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S1760F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S1664F	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1822	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGCATCTTCCCTTGTGGTT	0.632000													9	53					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188271	32188271	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:32188271T>G	ENST00000375023.3	-	6	1208	c.1070A>C	c.(1069-1071)gAt>gCt	p.D357A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	357	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AATACAGTCATCCAGGTTCTC	0.612000													17	281					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777154	60777154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:60777154G>A	ENST00000313421.7	+	5	1078	c.892G>A	c.(892-894)Gag>Aag	p.E298K	CD6_ENST00000452451.2_Missense_Mutation_p.E298K|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Missense_Mutation_p.E298K|CD6_ENST00000352009.5_Missense_Mutation_p.E298K|CD6_ENST00000344028.5_Missense_Mutation_p.E298K	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	298	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GTACCCATCGGAGGCCAAGGT	0.632000													4	51					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51772866	51772866	+	Missense_Mutation	SNP	G	G	A	rs143319761		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:51772866G>A	ENST00000251076.5	-	24	6724	c.6437C>T	c.(6436-6438)tCg>tTg	p.S2146L	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.S2146L|DMXL2_ENST00000449909.3_Missense_Mutation_p.S1510L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2146						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCAACCACGACTTTCGTCT	0.458000													7	88					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58121770	58121770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:58121770C>T	ENST00000257897.3	-	14	1733	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	AGAP2-AS1_ENST00000542466.2_3'UTR|AGAP2_ENST00000547588.1_Missense_Mutation_p.E906K	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	906	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTGACTCTCGATGGCCTGG	0.562000													11	128					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76990179	76990179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:76990179C>T	ENST00000257626.7	-	14	1067	c.989G>A	c.(988-990)gGg>gAg	p.G330E		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		CATGTGTGACCCAACATTCTC	0.463000													3	27					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262032	241262032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:241262032C>T	ENST00000366565.1	-	3	490	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.E37K|RGS7_ENST00000331110.7_Missense_Mutation_p.E11K|RGS7_ENST00000401882.1_Missense_Mutation_p.E37K|RGS7_ENST00000366564.1_Missense_Mutation_p.E37K|RGS7_ENST00000366562.4_Missense_Mutation_p.E37K|RGS7_ENST00000366563.1_Missense_Mutation_p.E37K|RGS7_ENST00000407727.1_Missense_Mutation_p.E37K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	37	DEP.				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			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)			CCATTTTTTTCATCTTGCATC	0.348000													4	26					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750676	40750676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:40750676C>T	ENST00000561234.1	+	2	272	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	BAHD1_ENST00000416165.1_Missense_Mutation_p.R5W|BAHD1_ENST00000560846.1_Missense_Mutation_p.R5W			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	5					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GACACACACTCGGAGAAAGTC	0.597000													9	88					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50212045	50212045	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:50212045G>A	ENST00000392518.4	+	14	1887	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	CPT1C_ENST00000323446.5_Silent_p.P505P|CPT1C_ENST00000598293.1_Silent_p.P505P|CPT1C_ENST00000354199.5_Silent_p.P505P|CPT1C_ENST00000405931.2_Silent_p.P494P	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	505					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.P505P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGGGCACCCGGACCCCACAC	0.597000													12	90					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70541910	70541910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr8:70541910G>A	ENST00000260128.4	+	19	2997	c.2280G>A	c.(2278-2280)tgG>tgA	p.W760*	SULF1_ENST00000419716.3_Nonsense_Mutation_p.W760*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.W760*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.W760*|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	760					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CCCCGTTCTGGAACCGTAAGT	0.517000													20	110					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17025287	17025287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:17025287G>A	ENST00000443236.1	-	29	3980	c.3949C>T	c.(3949-3951)Ccg>Tcg	p.P1317S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1270						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGTCAGCGGGACAGTGCCG	0.632000													7	33					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47690209	47690209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:47690209C>T	ENST00000406134.1	+	9	1488	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	MSH2_ENST00000233146.2_Missense_Mutation_p.P476S|MSH2_ENST00000543555.1_Missense_Mutation_p.P410S			P43246	MSH2_HUMAN	mutS homolog 2	476					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCATTTGATCCTAATCTCAG	0.333000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	52					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50294062	50294062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:50294062G>A	ENST00000332853.3	-	3	487	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	155	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCTTTGAGGGAAATGACTGA	0.328000													4	31					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89831327	89831327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89831327G>A	ENST00000389301.3	-	28	2779	c.2749C>T	c.(2749-2751)Cga>Tga	p.R917*	FANCA_ENST00000568369.1_Nonsense_Mutation_p.R917*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	917					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AACACCTCTCGGAAGGTTCTG	0.552000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	68					0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238128	75238128	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:75238128G>A	ENST00000303037.8	-	7	766	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	241	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CAGCGGGCGTGGTGGTAGAGC	0.662000													10	68					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068506	9068506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:9068506C>T	ENST00000397910.4	-	3	19143	c.18940G>A	c.(18940-18942)Gaa>Aaa	p.E6314K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6316	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATAGAATTCATTTGGTGAA	0.463000													11	42					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798490	39798490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:39798490G>A	ENST00000248668.4	-	2	2098	c.2099C>T	c.(2098-2100)cCg>cTg	p.P700L		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	700						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GCGCTGCTGCGGCCTCGGCCG	0.716000													3	11					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769545	51769545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:51769545C>T	ENST00000374056.4	+	7	1989	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	AGAP6_ENST00000412531.3_Missense_Mutation_p.P554S			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	554					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						GCAGACAAAACCCTCAGAAAA	0.532000													16	115					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060264	16060264	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:16060264C>T	ENST00000322107.1	+	1	447	c.447C>T	c.(445-447)acC>acT	p.T149T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGCCTGTACCTGGGCTGGTG	0.527000													10	40					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968072	2968072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:2968072C>T	ENST00000342628.2	-	10	2251	c.2138G>A	c.(2137-2139)aGg>aAg	p.R713K	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.R675K|FOXM1_ENST00000361953.3_Missense_Mutation_p.R660K	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	675					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACTGAGGAGCCTTTGCGGTGA	0.602000													5	58					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120711	41120711	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:41120711C>T	ENST00000299174.5	-	1	196	c.129G>A	c.(127-129)ccG>ccA	p.P43P	PPP1R14D_ENST00000427255.2_Silent_p.P43P	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	43					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGAGGAGTCCGGGTGGGACT	0.607000													5	53					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9101860	9101860	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:9101860G>A	ENST00000377424.4	-	5	734	c.555C>T	c.(553-555)ctC>ctT	p.L185L	SLC2A5_ENST00000377414.3_Silent_p.L185L|SLC2A5_ENST00000535586.1_Silent_p.L70L|SLC2A5_ENST00000536305.1_Silent_p.L126L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	185					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGTTTGCAAGGAGATTCCGAA	0.587000													6	76					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97679323	97679323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:97679323G>A	ENST00000275053.4	-	13	1773	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	MMS22L_ENST00000369251.2_Missense_Mutation_p.P463L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	503					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGTTTCCAAGGATGAGGGCC	0.343000													3	24					0	0	1	0	0
NFKBIL1	4795	broad.mit.edu	37	6	31525483	31525483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:31525483C>T	ENST00000376148.4	+	3	527	c.413C>T	c.(412-414)cCt>cTt	p.P138L	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.P138L	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	138					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GGGGAGACCCCTGGCCAAATT	0.577000													5	39					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27005189	27005189	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27005189C>T	ENST00000314616.6	+	9	1378	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SUPT6H_ENST00000347486.4_Silent_p.F365F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	365					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCCTGGGCTTCATGCGAAATC	0.488000													5	48					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929304	4929304	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:4929304G>A	ENST00000359350.4	+	1	705	c.705G>A	c.(703-705)aaG>aaA	p.K235K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K235N(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGCTTAAGGCCCTAAATA	0.478000													8	35					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52537686	52537686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:52537686G>A	ENST00000594154.1	-	5	1458	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	ZNF432_ENST00000221315.5_Missense_Mutation_p.L416F			O94892	ZN432_HUMAN	zinc finger protein 432	416			L -> V (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L416V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTACAATAAGATTACTCTTC	0.398000													13	77					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874606	10874606	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr6:10874606G>A	ENST00000379491.4	-	5	1290	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	381					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGATCACGGTTTGTAGGG	0.557000													8	173					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012974	189012974	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:189012974G>A	ENST00000512729.1	-	7	1091	c.717C>T	c.(715-717)ttC>ttT	p.F239F	TRIML2_ENST00000326754.3_Silent_p.F264F	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	239	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCATGGCACTGAAATCCAATC	0.557000													7	118					0	0	1	0	0
POLR3K	51728	broad.mit.edu	37	16	97479	97479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:97479G>A	ENST00000293860.5	-	3	319	c.278C>T	c.(277-279)aCc>aTc	p.T93I		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	93					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTTGTAGAAGGTGGTCATCGG	0.552000													10	55					0	0	1	0	0
RPL26L1	51121	broad.mit.edu	37	5	172395530	172395530	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr5:172395530C>T	ENST00000521476.1	+	3	361	c.237C>T	c.(235-237)gtC>gtT	p.V79V	RPL26L1_ENST00000519974.1_Silent_p.V79V|RPL26L1_ENST00000265100.2_Silent_p.V79V|RPL26L1_ENST00000519239.1_Silent_p.V79V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAATATGTCATCTACATCG	0.498000													9	101					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486685	36486685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:36486685C>T	ENST00000342292.4	-	11	2787	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	923						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCTAGCCTCCTCATGAAGC	0.642000													3	14					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687209	23687209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:23687209G>A	ENST00000546136.1	-	14	2199	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	SOX5_ENST00000309359.1_Missense_Mutation_p.P733S|SOX5_ENST00000396007.2_Missense_Mutation_p.P360S|SOX5_ENST00000541536.1_Missense_Mutation_p.P625S|SOX5_ENST00000537393.1_Missense_Mutation_p.P711S|SOX5_ENST00000545921.1_Missense_Mutation_p.P736S|SOX5_ENST00000451604.2_Missense_Mutation_p.P746S|SOX5_ENST00000381381.2_Missense_Mutation_p.P625S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	746					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCTACATCTGGATCATCCTCT	0.433000													14	99					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887587	12887587	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:12887587C>T	ENST00000535591.1	-	3	465	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTTTTGTTCCTCTTGGCAT	0.483000													66	244					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122176207	122176207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:122176207G>A	ENST00000263710.4	-	23	2700	c.2311C>T	c.(2311-2313)Cct>Tct	p.P771S	CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000455322.2_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	771	Interaction with microtubules, MAPRE1 and MAPRE3.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAAGTGGAGGAAAGCCCCGA	0.597000													9	62					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62376927	62376927	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:62376927G>A	ENST00000394773.2	-	6	964	c.657C>T	c.(655-657)ttC>ttT	p.F219F	EML3_ENST00000529309.1_Silent_p.F219F|EML3_ENST00000531557.1_Silent_p.F2F|EML3_ENST00000278845.4_Silent_p.F220F|EML3_ENST00000494176.2_Silent_p.F191F	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	219						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCCCTCGAAGGAACATCTTCA	0.582000													23	101					0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018226	61018226	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:61018226G>A	ENST00000406396.3	-	6	895	c.504C>T	c.(502-504)atC>atT	p.I168I	KDSR_ENST00000326575.5_Intron	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	168					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						ACACAAACACGATCCTGCCCA	0.547000													5	93					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789191	89789191	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:89789191T>A	ENST00000289816.5	+	2	545	c.233T>A	c.(232-234)tTc>tAc	p.F78Y	ZNF276_ENST00000443381.2_Missense_Mutation_p.F153Y|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.F78Y	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCAAGTCCTTCCTGCAGAGG	0.602000													8	73					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113436179	113436179	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:113436179G>A	ENST00000392583.2	+	5	1179	c.972G>A	c.(970-972)ctG>ctA	p.L324L	OAS2_ENST00000342315.4_Silent_p.L324L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	324	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCCCAACCTGGATAATGAGT	0.453000													4	68					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285469	238285469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:238285469G>A	ENST00000295550.4	-	7	3468	c.3016C>T	c.(3016-3018)Cat>Tat	p.H1006Y	COL6A3_ENST00000392004.3_Missense_Mutation_p.H800Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.H806Y|COL6A3_ENST00000353578.4_Missense_Mutation_p.H800Y|COL6A3_ENST00000392003.2_Missense_Mutation_p.H599Y|COL6A3_ENST00000347401.3_Missense_Mutation_p.H805Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.H800Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.H399Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1006	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATCTGTGGATGAAGATCTCCA	0.493000													26	251					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507060	18507060	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:18507060G>A	ENST00000339007.3	-	1	1367	c.714C>T	c.(712-714)tcC>tcT	p.S238S	LRRC25_ENST00000595840.1_Silent_p.S238S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	238						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						AGTCGGGAGTGGAGGGGCAGG	0.632000													14	67					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769151	88769151	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:88769151G>A	ENST00000444431.1	+	0	3751				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCCGTGTGCGATCTCTGGAG	0.537000													16	243					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021210	5021210	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:5021210C>T	ENST00000382545.3	+	2	1773	c.666C>T	c.(664-666)ttC>ttT	p.F222F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	222					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCCCTTCTTCATCGTGGAAA	0.527000													6	38					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914814	236914814	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:236914814G>A	ENST00000366578.4	+	15	1867	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	ACTN2_ENST00000542672.1_Silent_p.E567E|ACTN2_ENST00000546208.1_Silent_p.E61E	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	567					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCTGCCCGAGGCGGACGGAG	0.522000													5	68					0	0	1	0	0
KATNBL1	79768	broad.mit.edu	37	15	34445233	34445233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:34445233G>A	ENST00000256544.3	-	4	338	c.196C>T	c.(196-198)Cgt>Tgt	p.R66C		NM_024713.2	NP_078989.1			katanin p80 subunit B-like 1																		ATCACTTTACGAAGTTTATCT	0.348000													11	57					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70923464	70923464	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:70923464C>T	ENST00000264436.3	-	5	831	c.387G>A	c.(385-387)ggG>ggA	p.G129G	ADD2_ENST00000407644.2_Silent_p.G129G|ADD2_ENST00000355733.3_Silent_p.G129G|ADD2_ENST00000430656.1_Silent_p.G145G|ADD2_ENST00000413157.2_Silent_p.G129G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	129					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGAGCCGCTCCCCTTTGGCCA	0.592000													5	32					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348964	30348964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:30348964C>T	ENST00000327564.7	+	1	941	c.880C>T	c.(880-882)Caa>Taa	p.Q294*	LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.Q267*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.Q267*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.Q185*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.Q279*			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	267						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCCCAAAAGTCAAAATCCAGA	0.547000													20	99					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643417	37643417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:37643417C>T	ENST00000356958.4	-	5	1642	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G407R|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G407R|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGCTTTTCTCCTGTGTGAATT	0.383000													11	79					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179095589	179095589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:179095589G>A	ENST00000502732.1	-	4	813	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ABL2_ENST00000507173.1_Missense_Mutation_p.P183S|ABL2_ENST00000512653.1_Missense_Mutation_p.P189S|ABL2_ENST00000392043.3_Missense_Mutation_p.P183S|ABL2_ENST00000408940.3_Missense_Mutation_p.P168S|ABL2_ENST00000504405.1_Missense_Mutation_p.P168S|ABL2_ENST00000511413.1_Missense_Mutation_p.P204S|ABL2_ENST00000344730.3_Missense_Mutation_p.P189S|ABL2_ENST00000367623.4_Missense_Mutation_p.P183S	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	204	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCTGCCCAGGGCTACTCTCA	0.542000			T	ETV6	AML								10	56					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:150889963C>T	ENST00000370350.3	+	3	416	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000													18	29					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154571	22154571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:22154571C>T	ENST00000397126.4	-	4	3413	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.428000													4	16					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102398512	102398512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:102398512C>T	ENST00000260227.4	-	2	363	c.311G>A	c.(310-312)tGg>tAg	p.W104*		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	104					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		TTTGGAAGTCCATTTTGGGCT	0.413000													9	55					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919811	4919811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:4919811G>A	ENST00000433855.1	+	1	1470	c.604G>A	c.(604-606)Gat>Aat	p.D202N	KCNA6_ENST00000280684.3_Missense_Mutation_p.D202N	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	202						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GTTCCGTGTAGATGGTCGAGG	0.547000										HNSCC(72;0.22)			6	39					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381808	57381808	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:57381808C>T	ENST00000403558.1	+	7	1752	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	SERPING1_ENST00000378323.4_Silent_p.F424F|SERPING1_ENST00000378324.2_Silent_p.F367F|SERPING1_ENST00000340687.6_Silent_p.F382F|SERPING1_ENST00000278407.4_Silent_p.F419F	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	419					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TAGAATTCTTCGATTTTTCTT	0.483000													20	104					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602512	18602512	+	RNA	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr16:18602512G>A	ENST00000546162.2	+	0	1086					NR_003569.1																						CAAGAAGGGAGCCAGTGGCGC	0.567000													5	35					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76525746	76525746	+	Silent	SNP	G	G	A	rs883022		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:76525746G>A	ENST00000389840.5	-	22	3439	c.3315C>T	c.(3313-3315)gtC>gtT	p.V1105V	DNAH17_ENST00000585328.1_Silent_p.V1102V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATTCTGGCGACTTTCATGA	0.597000													8	49					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537318	5537318	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr11:5537318C>T	ENST00000380184.1	-	1	617	c.354G>A	c.(352-354)acG>acA	p.T118T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	118										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGGGATCATTCGTTGGCAGGT	0.547000													5	40					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497454	50497454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:50497454G>A	ENST00000267842.5	+	4	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	289					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTGCCTTGCGGACTAAATTT	0.398000													11	50					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922515	24922515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:24922515C>T	ENST00000329468.2	+	1	1975	c.1501C>T	c.(1501-1503)Cct>Tct	p.P501S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCCAACACCTCCTAGCTCCAC	0.517000													11	172					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415789	86415789	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:86415789C>T	ENST00000361669.2	+	3	1780	c.681C>T	c.(679-681)atC>atT	p.I227I	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.I99I|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.I227I|GRM3_ENST00000394720.2_Silent_p.I225I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	227					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGACAGGGATCGAGGCCTTCG	0.597000													12	39					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43388920	43388920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:43388920C>T	ENST00000296088.7	+	7	1473	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	SNRK_ENST00000454177.1_Missense_Mutation_p.S390F|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000429705.2_Missense_Mutation_p.S390F|SNRK_ENST00000437827.1_Missense_Mutation_p.S184F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	390					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTCCCTCAGTCTCCTGCTCGG	0.557000													6	62					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37270686	37270686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:37270686C>T	ENST00000373091.3	-	15	2483	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	GRIK3_ENST00000373093.4_Missense_Mutation_p.G823S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	823					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGAAGATGCCCCCGATCTTC	0.597000													8	104					0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50295059	50295059	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:50295059C>T	ENST00000313601.6	+	8	1389	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	GNAI2_ENST00000451956.1_Silent_p.F298F|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Silent_p.F283F|GNAI2_ENST00000266027.5_Silent_p.F319F|GNAI2_ENST00000422163.1_Silent_p.F319F|GNAI2_ENST00000536647.1_Silent_p.F254F	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	335					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ACGTGCAGTTCGTGTTTGACG	0.567000													4	46					0	0	1	0	0
ANKRD22	118932	broad.mit.edu	37	10	90588416	90588416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:90588416C>T	ENST00000371930.4	-	3	431	c.221G>A	c.(220-222)aGa>aAa	p.R74K		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	74										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CAAGCAGGTTCTCTCTTTCTA	0.299000													5	30					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46385867	46385867	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr18:46385867G>C	ENST00000256413.3	+	12	2029	c.1734G>C	c.(1732-1734)tgG>tgC	p.W578C	CTIF_ENST00000382998.4_Missense_Mutation_p.W580C	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	578					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTAACAGCTGGAACCCTCTGA	0.642000													8	59					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841579	100841579	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr7:100841579C>T	ENST00000223114.4	-	5	727	c.561G>A	c.(559-561)gtG>gtA	p.V187V	MOGAT3_ENST00000440203.2_Silent_p.V187V|MOGAT3_ENST00000379423.3_Silent_p.V187V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	187					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCATGATGACCACGGCCTGCC	0.652000													6	38					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28375694	28375694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr15:28375694G>A	ENST00000261609.7	-	82	12725	c.12617C>T	c.(12616-12618)tCc>tTc	p.S4206F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4206					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGAAAACTGGGATCCGCATTC	0.423000													16	164					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556645	111556645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:111556645G>A	ENST00000389811.4	+	7	739	c.515G>A	c.(514-516)gGa>gAa	p.G172E	ACOXL_ENST00000439055.1_Missense_Mutation_p.G172E|ACOXL_ENST00000340561.4_Missense_Mutation_p.G172E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	172					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTGTACCCAGGAGTCACAGCT	0.507000													18	86					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535661	69535661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr4:69535661G>A	ENST00000338206.5	-	1	685	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	226					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCATAAATTTGAAACCAAAAG	0.318000													5	27					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19346936	19346936	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr22:19346936G>A	ENST00000263208.5	-	18	2413	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	HIRA_ENST00000340170.4_Intron|HIRA_ENST00000546308.1_Silent_p.S675S|HIRA_ENST00000541063.1_Silent_p.S675S	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	719	Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACTTCAGGCGGCTCAGCTTCA	0.592000													8	42					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823181	47823181	+	Silent	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:47823181G>A	ENST00000355085.3	+	2	169	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	49					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCGTCTTCCTGGTGGGAGTGC	0.562000													6	74					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46857534	46857534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:46857534G>A	ENST00000218343.4	+	4	437	c.139G>A	c.(139-141)Gac>Aac	p.D47N	PHF16_ENST00000397189.1_Missense_Mutation_p.D47N	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		47					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						ATTCCGGAAGGACCTCATCAG	0.408000													13	33					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220789325	220789325	+	Silent	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:220789325C>T	ENST00000402574.1	+	7	1137	c.135C>T	c.(133-135)caC>caT	p.H45H	MARK1_ENST00000366917.4_Silent_p.H180H|MARK1_ENST00000366918.4_Silent_p.H158H	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	180					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACATTGTTCACCGTGATCTTA	0.259000													5	35					0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793446	242793446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:242793446C>T	ENST00000334409.5	-	5	700	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	211					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAGGGGTCCTCCTTCTTTGAG	0.657000													7	35					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864335	26864335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:26864335G>A	ENST00000226247.2	+	8	1857	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	FOXN1_ENST00000579795.1_Missense_Mutation_p.D610N	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	610					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCACTGGGTGACCTGCACCT	0.677000													7	34					0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864920	52864920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr12:52864920G>A	ENST00000252250.6	-	5	1120	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	358	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCTCACCTTGGTCTGGTACCA	0.582000													22	148					0	0	1	0	0
CFAP221	200373	broad.mit.edu	37	2	120362843	120362843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr2:120362843G>A	ENST00000602047.1	+	12	1365	c.253G>A	c.(253-255)Gag>Aag	p.E85K	PCDP1_ENST00000413369.3_Missense_Mutation_p.E371K|PCDP1_ENST00000597189.1_3'UTR			Q4G0U5	PCDP1_HUMAN		371						cilium	calmodulin binding					Colorectal(110;0.196)					CATTCACGAAGAGATGGAAAA	0.383000													4	33					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43647265	43647265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr1:43647265delC	ENST00000372492.4	+	3	542	c.218delC	c.(217-219)gtfs	p.A73fs	WDR65_ENST00000528956.1_Frame_Shift_Del_p.A73fs	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	73										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGTACCTCGCTATCTCTGAG	0.458													15	51	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37081681	37081681	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr3:37081681delC	ENST00000231790.2	+	14	1779	c.1563delC	c.(1561-1563)ctfs	p.L521fs	MLH1_ENST00000536378.1_Frame_Shift_Del_p.L280fs|MLH1_ENST00000458205.2_Frame_Shift_Del_p.L280fs|MLH1_ENST00000455445.2_Frame_Shift_Del_p.L280fs|MLH1_ENST00000539477.1_Frame_Shift_Del_p.L280fs|MLH1_ENST00000435176.1_Frame_Shift_Del_p.L423fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	37	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													5	8	---	---	---	---					
STAM	8027	broad.mit.edu	37	10	17737055	17737058	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr10:17737055_17737058delGTTG	ENST00000377524.3	+	7	758_761	c.543_546delGTTG	c.(541-546)gafs	p.EL181fs	STAM_ENST00000540523.1_Frame_Shift_Del_p.EL70fs	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	181					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TAGCCATTGAGTTGTCTCTCAAGG	0.382													10	51	---	---	---	---					
ERAL1	26284	broad.mit.edu	37	17	27185807	27185807	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:27185807delT	ENST00000254928.5	+	7	1022	c.925delT	c.(925-927)cafs	p.S309fs		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	309					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTTCATGTTGTCAGCCCTAAG	0.507													32	218	---	---	---	---					
SGSH	6448	broad.mit.edu	37	17	78188470	78188473	+	Frame_Shift_Del	DEL	CCGC	CCGC	-	rs104894638		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr17:78188470_78188473delCCGC	ENST00000326317.6	-	4	533_536	c.447_450delGCGG	c.(445-450)ggfs	p.GR149fs	SGSH_ENST00000572208.1_Intron|SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000570923.1_Frame_Shift_Del_p.GG161fs	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	149					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TAGTGATGTTCCGCCCCACCTGGA	0.627													8	44	---	---	---	---					
ZNF419	79744	broad.mit.edu	37	19	58004884	58004884	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chr19:58004884delG	ENST00000424930.2	+	5	1191	c.962delG	c.(961-963)ttfs	p.C321fs	ZNF419_ENST00000354197.4_Frame_Shift_Del_p.C308fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.C274fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.C288fs|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.C308fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.C320fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.C307fs	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TGCAGTGAATGTGGAAAATTG	0.393													10	51	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-EE-A2MR-06A-11D-A196-08	TCGA-EE-A2MR-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba3570af-a282-4f88-890f-8eabea099d12	541b06b9-a34e-4ee8-af13-e66fed3c39f4	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													3	3	---	---	---	---