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
AMPD3	272	broad.mit.edu	37	11	10508883	10508883	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:10508883C>T	ENST00000444303.2	+	5	906	c.434C>T	c.(433-435)cCc>cTc	p.P145L	AMPD3_ENST00000396554.3_Missense_Mutation_p.P313L	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	304					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAGAGTAACCCCCACCGGGAC	0.527000													43	62					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.I200I|CHST4_ENST00000572450.1_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													20	18					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78077709	78077709	+	Silent	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:78077709T>C	ENST00000264914.4	-	7	1838	c.1302A>G	c.(1300-1302)agA>agG	p.R434R		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	434					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AATTTCCATGTCTAATTGCAG	0.498000													12	20					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856244	21856244	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:21856244C>T	ENST00000328843.6	+	65	10544	c.10513C>T	c.(10513-10515)Ccc>Tcc	p.P3505S	DNAH11_ENST00000409508.3_Missense_Mutation_p.P3498S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3505	AAA 5 (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						GGTGATAGATCCCCAGCAACA	0.483000									Kartagener syndrome				12	21					0	0	1	0	0
TRIM26	7726	broad.mit.edu	37	6	30164453	30164453	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:30164453C>T	ENST00000454678.2	-	6	1041	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	TRIM26_ENST00000437089.1_Missense_Mutation_p.R202Q|TRIM26_ENST00000453195.1_Missense_Mutation_p.R202Q	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	202							DNA binding|zinc ion binding	p.R202Q(2)		lung(1)|ovary(2)	3						GTGTTCCTCCCGCTCCCTCAG	0.632000													4	95					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882591	228882591	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:228882591C>T	ENST00000392056.3	-	7	3025	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	SPHKAP_ENST00000344657.5_Silent_p.R993R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	993						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)		GCTTGTGTTTCCTCACAGCGG	0.537000													23	35					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426472	10426472	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10426472G>A	ENST00000245503.5	-	39	5992	c.5608C>T	c.(5608-5610)Ctt>Ttt	p.L1870F	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1870F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1870					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						AAATCTTGAAGCCTGAGAATA	0.338000													4	27					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651284	1651284	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1651284A>G	ENST00000399676.2	+	1	252	c.214A>G	c.(214-216)Atg>Gtg	p.M72V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	72	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		CTGCAAGCCCATGTGCTGCTG	0.667000													5	194					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058388	67058388	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:67058388G>A	ENST00000295568.4	+	4	1438	c.1307G>A	c.(1306-1308)gGt>gAt	p.G436D	KBTBD8_ENST00000460576.1_Missense_Mutation_p.G20D|KBTBD8_ENST00000417314.2_Missense_Mutation_p.G462D	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	462										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACTACTGGGGTTTCTTAACC	0.358000													20	37					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95169418	95169418	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:95169418C>T	ENST00000371501.4	-	6	634	c.512G>A	c.(511-513)gGg>gAg	p.G171E	MYOF_ENST00000371489.1_Missense_Mutation_p.G171E|MYOF_ENST00000371502.4_Missense_Mutation_p.G171E|MYOF_ENST00000358334.5_Missense_Mutation_p.G171E|MYOF_ENST00000359263.4_Missense_Mutation_p.G171E			Q9NZM1	MYOF_HUMAN	myoferlin	171					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGACACCGTCCCAACTGGCCC	0.547000													89	177					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29647298	29647298	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:29647298C>T	ENST00000356870.3	+	27	3917	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	PTPRU_ENST00000373779.3_Silent_p.I1263I|PTPRU_ENST00000428026.2_Silent_p.I1260I|PTPRU_ENST00000460170.2_Silent_p.I1269I|PTPRU_ENST00000345512.3_Silent_p.I1273I|PTPRU_ENST00000323874.8_Silent_p.I1269I	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1273	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)		GCACCTCCATCGTCATGCTCA	0.637000													19	31					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087905	47087905	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:47087905C>T	ENST00000374312.1	+	3	1541	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	NPY4R_ENST00000395716.1_Silent_p.P374P	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		GGTCCAATCCCATTTAACCAG	0.587000													11	46					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310332	124310332	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:124310332G>A	ENST00000328064.2	-	1	722	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		GAGAGCATAGGAAATGAAGAT	0.483000													28	26					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49441821	49441821	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49441821C>T	ENST00000301067.7	-	14	4162	c.4163G>A	c.(4162-4164)cGg>cAg	p.R1388Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.R1115L(1)									CTCTGCCCCCCGGCCAAAGCT	0.547000													9	39					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155261	139155261	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:139155261C>T	ENST00000395297.1	-	16	3802	c.3632G>A	c.(3631-3633)cGa>cAa	p.R1211Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1211								p.R1211Q(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)			TTACCTAATTCGGGATATGGA	0.393000										HNSCC(54;0.14)			10	29					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586826	142586826	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:142586826C>T	ENST00000378004.3	+	21	2407	c.2052C>T	c.(2050-2052)tcC>tcT	p.S684S	ARHGAP26_ENST00000274498.4_Silent_p.S684S|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	684	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCGCCATCCAGCCCTATGC	0.557000													29	48					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123105006	123105006	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123105006G>A	ENST00000466202.1	-	10	2215	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	IQUB_ENST00000434450.1_Missense_Mutation_p.L547F|IQUB_ENST00000324698.6_Missense_Mutation_p.L547F			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	547										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTCATCATAAGGTCAACCTCT	0.308000													61	62					0	0	1	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743091	13743091	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:13743091C>T	ENST00000316412.5	+	2	379	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.R94C	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	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;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|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)		CCACAGGGTTCGTCTCAGGTG	0.602000													17	18					0	0	1	0	0
PIANP	196500	broad.mit.edu	37	12	6804720	6804720	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:6804720C>T	ENST00000534837.1	-	5	932	c.703G>A	c.(703-705)Gga>Aga	p.G235R	PIANP_ENST00000540656.1_Missense_Mutation_p.G235R|PIANP_ENST00000320591.5_Missense_Mutation_p.G235R	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		ACAGTGACTCCAGCCGGGGAC	0.701000													30	54					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45293285	45293285	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:45293285C>T	ENST00000270279.3	+	6	1005	c.942C>T	c.(940-942)acC>acT	p.T314T	CBLC_ENST00000341505.4_Silent_p.T268T	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	314	Cbl-PTB.|SH2-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)				ATGGAAAGACCCACAACCCAG	0.612000			M		AML								36	69					0	0	1	0	0
ABR	29	broad.mit.edu	37	17	962063	962063	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:962063C>T	ENST00000544583.2	-	11	1688	c.1089G>A	c.(1087-1089)aaG>aaA	p.K363K	ABR_ENST00000291107.2_Silent_p.K372K|ABR_ENST00000536794.2_Silent_p.K191K|ABR_ENST00000574437.1_Silent_p.K363K|ABR_ENST00000302538.5_Silent_p.K409K	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	409	PH.				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CAAACATCTTCTTCTTCAGGC	0.572000											OREG0024068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	24					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:183824092G>A	ENST00000415389.2	+	8	1568	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K|HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K|HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000													6	19					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32705054	32705054	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:32705054G>A	ENST00000531481.1	-	7	733	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	CCDC73_ENST00000335185.5_Intron|CCDC73_ENST00000534415.1_Intron			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	0										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATCCAGATGGGGGAAAATATG	0.303000													4	16					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191934455	191934455	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:191934455C>T	ENST00000392320.2	-	6	822	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	STAT4_ENST00000358470.4_Missense_Mutation_p.E170K	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	170					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)			TAGTCAAATTCGTCTTGCAGA	0.323000													19	38					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708370	156708370	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:156708370G>A	ENST00000368211.4	-	2	265	c.127C>T	c.(127-129)Cca>Tca	p.P43S	MRPL24_ENST00000361531.2_Missense_Mutation_p.P43S	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	43	Poly-Arg.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACAACCACTGGGCGCCGCCTG	0.592000													63	45					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832977	130832977	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:130832977G>A	ENST00000357462.5	-	15	2161	c.2068C>T	c.(2068-2070)Ctt>Ttt	p.L690F	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.L690F|POTEF_ENST00000361163.4_3'UTR			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	690						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCCTTTAAAAGATTATCATTC	0.433000													14	23					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87760750	87760750	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:87760750C>T	ENST00000439864.1	+	11	1207	c.992C>T	c.(991-993)tCg>tTg	p.S331L	ADAM22_ENST00000398201.4_Splice_Site_p.S331_splice|ADAM22_ENST00000265727.7_Splice_Site_p.S331_splice|ADAM22_ENST00000315984.7_Splice_Site_p.S331_splice|ADAM22_ENST00000398204.4_Splice_Site_p.S331_splice|ADAM22_ENST00000398209.3_Splice_Site_p.S331_splice			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	331	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CACCTTTTTTCGTACGTAACT	0.328000													18	29					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94411887	94411887	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:94411887C>T	ENST00000282020.4	+	12	2214	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	GRID2_ENST00000510992.1_Silent_p.L557L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	652					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGGCAAACCTCGCTGCTTTCC	0.453000													21	43					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49441820	49441820	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49441820C>T	ENST00000301067.7	-	14	4163	c.4164G>A	c.(4162-4164)cgG>cgA	p.R1388R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTCTGCCCCCCGGCCAAAGC	0.552000													10	40					0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36464552	36464552	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:36464552G>A	ENST00000229812.7	-	13	1488	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	401	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAATGCTTTTGATTTCAATAG	0.373000													4	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099105	168099105	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:168099105C>T	ENST00000409195.1	+	9	1292	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.F401F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F179F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	226					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						AAGAGACTTTCAAGCCATCAT	0.423000													25	59					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008739	11008739	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:11008739C>A	ENST00000377004.4	-	12	1452	c.1453G>T	c.(1453-1455)Gag>Tag	p.E485*	C1orf127_ENST00000377008.4_Nonsense_Mutation_p.E318*	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	336										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)		TCTACAGGCTCCGAGGGGAGC	0.672000													31	35					3.80469e-20	3.95332e-20	1	1	0
ZNF215	7762	broad.mit.edu	37	11	6977274	6977274	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:6977274G>A	ENST00000278319.5	+	7	1654	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.E356K|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAGAATATGAATATGGGAA	0.338000													12	24					0	0	1	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74589839	74589839	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:74589839C>T	ENST00000451608.2	-	3	285	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	DCTN1_ENST00000409567.3_Missense_Mutation_p.A1158T|DCTN1_ENST00000409240.1_Missense_Mutation_p.A1141T|DCTN1_ENST00000409438.1_Missense_Mutation_p.A1044T|DCTN1_ENST00000409868.1_Missense_Mutation_p.A1161T|DCTN1_ENST00000407639.2_Missense_Mutation_p.A1049T|DCTN1_ENST00000394003.3_Missense_Mutation_p.A1176T|DCTN1_ENST00000361874.3_Missense_Mutation_p.A1183T																							ATAAGTTGGGCCGACGGGCTC	0.567000													3	12					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104640152	104640152	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:104640152C>T	ENST00000315264.7	+	9	1938	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	KIF26A_ENST00000423312.2_Silent_p.A659A			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	659	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)		CCCTGTCGGCCCTGGGCAGCG	0.706000													16	29					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129011	20129011	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:20129011C>T	ENST00000334554.7	+	9	1224	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	ZDHHC8_ENST00000320602.7_Silent_p.F269F|ZDHHC8_ENST00000405930.3_Silent_p.F361F|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	361						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGCCGGCTTTCCCCACGGGTC	0.657000													10	15					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21771858	21771858	+	Nonsense_Mutation	SNP	G	G	A	rs144955773		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:21771858G>A	ENST00000388958.3	+	28	3418	c.3417G>A	c.(3415-3417)tgG>tgA	p.W1139*	OTOA_ENST00000388957.3_Nonsense_Mutation_p.W815*|OTOA_ENST00000286149.4_Nonsense_Mutation_p.W1153*|OTOA_ENST00000388956.4_Nonsense_Mutation_p.W1060*	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	1153					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)		AGCTCCTGTGGTGAGTGGCCT	0.537000													14	20					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22294440	22294440	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:22294440A>T	ENST00000324559.8	+	19	2457	c.2140A>T	c.(2140-2142)Act>Tct	p.T714S	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	714						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						GAAACTTACCACTCAATACAG	0.398000													19	35					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102534	168102534	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:168102534G>A	ENST00000409195.1	+	9	4721	c.4632G>A	c.(4630-4632)aaG>aaA	p.K1544K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K1544K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.K1322K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1369					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						GAGTAGAAAAGATAGAAATTA	0.358000													16	30					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45907653	45907653	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:45907653A>G	ENST00000374391.2	+	4	499	c.446A>G	c.(445-447)aAc>aGc	p.N149S	ALOX5_ENST00000542434.1_Missense_Mutation_p.N149S	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	149	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)	ATGGAGTGGAACCCTGGCTTC	0.498000													16	27					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108129437	108129437	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:108129437G>A	ENST00000273353.3	-	32	4604	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1516						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						TACCTTGGAGGTTCTTGTTCT	0.547000													19	30					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070593	153070593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:153070593C>A	ENST00000164640.4	-	7	912	c.721G>T	c.(721-723)Gag>Tag	p.E241*	PDZD4_ENST00000393758.2_Nonsense_Mutation_p.E166*|PDZD4_ENST00000544474.1_Nonsense_Mutation_p.E132*|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	241						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					GCACGCAGCTCCCCCTCATTC	0.612000													26	21					7.01153e-11	7.15499e-11	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79429941	79429941	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:79429941G>A	ENST00000264895.6	+	63	10001	c.9561G>A	c.(9559-9561)aaG>aaA	p.K3187K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3182					cell communication	integral to membrane|plasma membrane	metal ion binding	p.K3187N(1)		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						AAGGAGTCAAGAAATCCCCCT	0.547000													8	14					0	0	1	0	0
RGS7BP	401190	broad.mit.edu	37	5	63803625	63803625	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:63803625C>T	ENST00000334025.2	+	2	579	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	85					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CCCCTCACTCCGGGCGGAAAT	0.517000													11	19					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101933623	101933623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:101933623G>A	ENST00000348070.1	-	9	999	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	PCSK6_ENST00000331826.7_Nonsense_Mutation_p.Q169*|PCSK6_ENST00000398181.2_Nonsense_Mutation_p.Q334*|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.Q334*|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Nonsense_Mutation_p.Q334*	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	335	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGGCCCTGCCGGCCCTGG	0.607000													21	23					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64587767	64587767	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:64587767C>T	ENST00000357395.3	+	69	13445	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	SYNE2_ENST00000344113.4_Silent_p.F4382F|SYNE2_ENST00000555002.1_Silent_p.F1016F|SYNE2_ENST00000554584.1_Silent_p.F4397F|SYNE2_ENST00000358025.3_Silent_p.F4382F|SYNE2_ENST00000553455.1_Silent_p.F101F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.F767F			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4382					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)		AAAAAGATTTCCAGCAGCAAC	0.443000													13	40					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72134020	72134020	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:72134020G>A	ENST00000305425.4	-	5	1795	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P510L|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	508					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)		ATGTGATGATGGGTGACTGCC	0.567000													11	8					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551211	125551211	+	Translation_Start_Site	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:125551211G>A	ENST00000373680.2	+	0	62					NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGTCCAGTAGGATGAACTCAG	0.572000													16	40					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907871	12907871	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:12907871T>C	ENST00000317869.6	-	2	497	c.272A>G	c.(271-273)aAc>aGc	p.N91S		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						GTTTCCTCGGTTCACTTTTGG	0.483000													14	95					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539861	55539861	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:55539861G>A	ENST00000220676.1	+	4	3567	c.3419G>A	c.(3418-3420)gGa>gAa	p.G1140E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1140					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)			AACCTAAAGGGAAGTATGAAT	0.408000													26	31					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18014233	18014233	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:18014233C>T	ENST00000361221.3	+	27	3334	c.3175C>T	c.(3175-3177)Ctc>Ttc	p.L1059F	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.L762F|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.L1054F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.L832F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.L1020F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.L1020F|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1059					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GACCACCTTCCTCCTGCCAGG	0.627000													7	13					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008740	11008740	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:11008740C>T	ENST00000377004.4	-	12	1451	c.1452G>A	c.(1450-1452)tcG>tcA	p.S484S	C1orf127_ENST00000377008.4_Silent_p.S317S	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	335								p.S317S(1)|p.S484S(1)		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)		CTACAGGCTCCGAGGGGAGCG	0.672000													31	36					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70515000	70515000	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:70515000C>T	ENST00000323786.5	-	19	2304	c.2283G>A	c.(2281-2283)acG>acA	p.T761T		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	757	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.T761T(1)		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)				TGAGGCGCCACGTCAATGGGC	0.582000													3	47					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390343	93390343	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:93390343G>A	ENST00000238994.5	-	2	379	c.295C>T	c.(295-297)Cat>Tat	p.H99Y		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	99							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GAGAAGACATGGATCGCAGTG	0.498000													19	39					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634373	48634373	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:48634373T>A	ENST00000435803.1	+	58	14732	c.14708T>A	c.(14707-14709)gTt>gAt	p.V4903D	ABCA13_ENST00000544596.1_Missense_Mutation_p.V633D	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4903	ABC transporter 2.				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						ATGAAGGAGGTTCGGGAAGGC	0.498000													25	47					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869681	234869681	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:234869681G>A	ENST00000324695.4	+	12	1664	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	TRPM8_ENST00000433712.2_Missense_Mutation_p.G230S	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	542						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)	AGACAGAAATGGCCGGGACGA	0.488000													5	14					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204727	72204727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:72204727C>T	ENST00000305425.4	-	3	1515	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	DACH1_ENST00000313174.7_Missense_Mutation_p.G365R|DACH1_ENST00000359684.2_Missense_Mutation_p.G365R|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	363	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)		GAGTCTGCTCCATGTTGGTTA	0.398000													64	117					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67315971	67315971	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:67315971C>T	ENST00000360461.5	+	7	3600	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PLEKHG4_ENST00000450733.1_Silent_p.I274I|PLEKHG4_ENST00000427155.2_Silent_p.I355I|PLEKHG4_ENST00000379344.3_Silent_p.I355I	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	355					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGGGGGCCATCGAAAGTGTGA	0.622000													15	39					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11594532	11594532	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:11594532G>A	ENST00000294484.6	+	18	3608	c.3470G>A	c.(3469-3471)gGc>gAc	p.G1157D	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1157D|PTCHD2_ENST00000304391.6_Silent_p.G43G	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1157					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)		TTGCCCGAGGGCTCAGTCCTG	0.627000													20	33					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858154	159858154	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:159858154C>T	ENST00000426543.2	-	4	605	c.150G>A	c.(148-150)aaG>aaA	p.K50K	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.K135K			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	135						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)			TGGTGGCTTCCTTCTCCTTCT	0.517000													9	30					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101197031	101197031	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:101197031C>T	ENST00000294728.2	+	6	1583	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.F432F|VCAM1_ENST00000347652.2_Silent_p.F402F	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	494	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACATGGAATTCGAACCCAAAC	0.378000													19	24					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520647	131520647	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:131520647G>A	ENST00000423981.1	+	2	1112	c.1002G>A	c.(1000-1002)ggG>ggA	p.G334G	AMER3_ENST00000321420.4_Silent_p.G334G	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																		GCCCCCAGGGGACAGACAGGG	0.652000													21	31					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784956	9784956	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:9784956G>A	ENST00000304374.2	+	1	1699	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	435					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)	GGGTCCTTTCGATCGCATGTT	0.557000													12	25					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312292	6312292	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:6312292G>A	ENST00000301452.4	-	3	295	c.218C>T	c.(217-219)tCc>tTc	p.S73F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	73						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAATACATGGAGAACAGGCC	0.627000													26	64					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214286	140214286	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140214286G>A	ENST00000525929.1	+	1	318	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L106L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCACCTGGAGGTGATCG	0.552000													36	194					0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852106	16852106	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:16852106C>T	ENST00000437538.2	-	2	261	c.253G>A	c.(253-255)Gac>Aac	p.D85N	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.D131N|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.D131N|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.D85N			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	131					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						CCCGAGTTGTCTGAATTGTTT	0.517000									IgA Deficiency, Selective				51	84					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171376042	171376042	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:171376042G>A	ENST00000334231.6	+	30	3594	c.3594G>A	c.(3592-3594)gaG>gaA	p.E1198E	MYO3B_ENST00000408978.4_Silent_p.E1189E|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.E1162E			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1189					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						CTGTCACAGAGAAAAATGGGT	0.433000													11	14					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330912	39330912	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39330912G>A	ENST00000221419.5	-	8	1423	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.R220C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	353	Pro-rich.				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)			GGGCCCCGACGGTGACCCCCC	0.682000													4	3					0	0	1	0	0
CTSO	1519	broad.mit.edu	37	4	156850828	156850828	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:156850828A>T	ENST00000433477.3	-	6	773	c.704T>A	c.(703-705)cTt>cAt	p.L235H		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	235					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		AAAGGTAAGAAGTGCTTTTGC	0.363000													14	25					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189933585	189933585	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:189933585C>T	ENST00000374866.3	-	19	1458	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	395					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCAGGGCCTCGCGCCCCTGT	0.488000													14	22					0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370957	101370957	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:101370957G>A	ENST00000370495.4	-	4	772	c.744C>T	c.(742-744)ttC>ttT	p.F248F	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	248					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GCTCCTGCAGGAATTCATAGG	0.567000													10	22					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939031	2939031	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:2939031G>A	ENST00000378404.2	+	1	986	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	261						cytoplasm|cytoskeleton		p.E261K(1)		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)		CCAGGCGCCCGAGGCCCTGTT	0.642000													30	46					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145638024	145638024	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:145638024T>G	ENST00000265271.5	+	11	1773	c.1607T>G	c.(1606-1608)gTg>gGg	p.V536G	RBM27_ENST00000506502.1_Missense_Mutation_p.V481G	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	536					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)			GCTAACATTGTGATCCAGACT	0.338000													17	28					0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156757976	156757976	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:156757976C>T	ENST00000537611.2	-	8	1146	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	367						integral to membrane|plasma membrane											GTTATGTGTTCCTACTGTACA	0.353000													15	25					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21078705	21078705	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:21078705C>T	ENST00000261383.3	-	24	3416	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	DNAH3_ENST00000415178.1_Silent_p.Q1139Q	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1139	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)		CCATCCGTGGCTGGTCGGCTG	0.458000													20	34					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923448	117923448	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:117923448G>A	ENST00000425217.1	-	15	2235	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.I756I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	756	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)					CATCCAAAACGATTTTGGCAT	0.453000													16	26					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122765670	122765670	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:122765670A>G	ENST00000194130.2	-	11	1232	c.1193T>C	c.(1192-1194)cTt>cCt	p.L398P	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	398						integral to membrane|plasma membrane	sodium:sulfate symporter activity	p.L398P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCTGGGATAAGAAAGAATAG	0.338000													25	71					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9523275	9523275	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:9523275C>T	ENST00000378429.3	-	10	2508	c.1962G>A	c.(1960-1962)agG>agA	p.R654R	PAK7_ENST00000353224.5_Silent_p.R654R|PAK7_ENST00000378423.1_Silent_p.R654R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	654	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)			TGTCCCGGATCCTCCGCATCG	0.502000													30	55					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283651	40283651	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:40283651A>C	ENST00000325157.6	-	2	352	c.102T>G	c.(100-102)agT>agG	p.S34R		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	34	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					ACATCAGAGAACTAGAGGGAC	0.408000													34	57					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261837	39261837	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:39261837G>A	ENST00000391415.1	+	1	254	c.197G>A	c.(196-198)cGc>cAc	p.R66H		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	66	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].		Missing (in allele KAP.9-v1).			keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACTTGTTCCCGCCCCAGCTGC	0.657000													14	18					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31344159	31344159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:31344159G>A	ENST00000396618.3	+	2	71	c.15G>A	c.(13-15)tgG>tgA	p.W5*	COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Nonsense_Mutation_p.W5*|COCH_ENST00000475087.1_Nonsense_Mutation_p.W5*	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	5					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CCGCAGCCTGGATCCCGGCTC	0.701000													21	29					0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028736	102028736	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:102028736C>T	ENST00000359323.3	+	1	1049	c.825C>T	c.(823-825)ccC>ccT	p.P275P	DIO3_ENST00000510508.4_Silent_p.P301P	NM_001362.3	NP_001353.4	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	275					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)				GCGCTCGGCCCCGGAGGGTGT	0.602000													12	32					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154474155	154474155	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:154474155C>T	ENST00000304760.2	-	1	434	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	116										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	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)			GGCCCTTGCCCGCGGCGGCCT	0.701000													8	34					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10253931	10253931	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10253931C>T	ENST00000418404.3	-	11	1249	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G	MYH13_ENST00000252172.4_Silent_p.G362G|MYH13_ENST00000570743.1_Silent_p.G362G			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	362	Myosin head-like.				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						ACTTCATGTTCCCATAATGCA	0.517000													33	71					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904217	37904217	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:37904217A>G	ENST00000316950.6	-	6	1900	c.1343T>C	c.(1342-1344)aTa>aCa	p.I448T	ZNF569_ENST00000392149.2_Missense_Mutation_p.I448T|ZNF569_ENST00000392150.2_Missense_Mutation_p.I289T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGACATCTGTATAAAAGCTTT	0.368000													9	18					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100193316	100193316	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:100193316G>A	ENST00000241071.6	+	8	1515	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	FBXO24_ENST00000468962.1_Missense_Mutation_p.G386E|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G436E|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	398						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATGGACCGAGGGGAACCCACA	0.517000													10	23					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110536529	110536529	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:110536529T>C	ENST00000368932.1	+	10	1084	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CDC40_ENST00000368930.1_Missense_Mutation_p.F328S|CDC40_ENST00000368933.1_Missense_Mutation_p.F328S|CDC40_ENST00000307731.1_Missense_Mutation_p.F328S			O60508	PRP17_HUMAN	cell division cycle 40	328					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CTGAGAACATTTATTGGTAAT	0.338000													14	11					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039122	22039122	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:22039122T>A	ENST00000406385.1	+	10	694	c.634T>A	c.(634-636)Tac>Aac	p.Y212N	PPIL2_ENST00000456792.2_Missense_Mutation_p.Y191N|PPIL2_ENST00000335025.7_Missense_Mutation_p.Y212N|PPIL2_ENST00000492445.2_Missense_Mutation_p.Y212N|PPIL2_ENST00000412327.1_Missense_Mutation_p.Y212N|PPIL2_ENST00000398831.3_Missense_Mutation_p.Y212N			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	212					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)					GCAGGAGCTCTACAAGGAGTT	0.522000													17	17					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47210392	47210392	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:47210392G>A	ENST00000300404.2	+	1	64	c.5G>A	c.(4-6)gGg>gAg	p.G2E	B4GALNT2_ENST00000504681.1_Intron|B4GALNT2_ENST00000393354.2_Intron	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	2					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAGGAATGGGGAGCGCTGGC	0.647000													10	12					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433564	55433564	+	Missense_Mutation	SNP	G	G	A	rs148830288	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55433564G>A	ENST00000314259.3	+	1	951	c.922G>A	c.(922-924)Ggg>Agg	p.G308R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCTTTGGCTGGGAAATAACT	0.418000													13	22					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23523425	23523425	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:23523425C>T	ENST00000397359.3	-	6	1156	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CDH24_ENST00000487137.2_Silent_p.L299L|CDH24_ENST00000554034.1_Silent_p.L299L|CDH24_ENST00000267383.5_Silent_p.L299L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	299	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCCCCATCCAGGATGCTGT	0.632000													70	72					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007904	6007904	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:6007904G>A	ENST00000332249.4	-	1	311	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCGATGGCAGCTAGCAT	0.527000													8	12					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164562	139164562	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:139164562C>T	ENST00000395297.1	-	13	2326	c.2156G>A	c.(2155-2157)cGa>cAa	p.R719Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	719										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)			GGCATGTCTTCGAACAAACGG	0.567000										HNSCC(54;0.14)			22	20					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641147	179641147	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:179641147C>T	ENST00000589042.1	-	28	5668	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	TTN_ENST00000342175.6_Missense_Mutation_p.R1769K|TTN_ENST00000359218.5_Missense_Mutation_p.R1769K|TTN_ENST00000591111.1_Missense_Mutation_p.R1815K|TTN_ENST00000360870.5_Missense_Mutation_p.R1815K|TTN_ENST00000342992.6_Missense_Mutation_p.R1815K|TTN_ENST00000460472.2_Missense_Mutation_p.R1769K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1547							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)			TTCTTCAATTCTCTGTAAGCC	0.408000													36	59					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111680403	111680403	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:111680403A>G	ENST00000398006.2	-	14	2071	c.1163T>C	c.(1162-1164)aTc>aCc	p.I388T	ALG9_ENST00000531154.1_Missense_Mutation_p.I395T|ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	559					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GGCCAAGCTGATCCATTCTTC	0.388000													22	23					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744460	76744460	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:76744460G>A	ENST00000369963.3	-	2	301	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	IMPG1_ENST00000369950.3_Missense_Mutation_p.R116C			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	116					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCAGGGATGCGATCCAGAAAG	0.502000													31	19					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393349	145393349	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:145393349G>A	ENST00000511217.1	+	4	836	c.784G>A	c.(784-786)Ggt>Agt	p.G262S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G262S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	262							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)			GAAGAACAAAGGTCGCCAGTC	0.517000													13	36					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762156	23762156	+	Missense_Mutation	SNP	G	G	A	rs146832864	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:23762156G>A	ENST00000397312.2	-	2	351	c.77C>T	c.(76-78)tCg>tTg	p.S26L	ELAVL2_ENST00000380110.4_Missense_Mutation_p.S55L|ELAVL2_ENST00000223951.6_Missense_Mutation_p.S26L|ELAVL2_ENST00000544538.1_Missense_Mutation_p.S26L|ELAVL2_ENST00000380117.1_Missense_Mutation_p.S26L	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	26					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.S26L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACTGGTGACGAACAGTTGTT	0.433000													50	41					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56749257	56749257	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:56749257G>A	ENST00000314128.4	-	5	464	c.441C>T	c.(439-441)tcC>tcT	p.S147S	STAT2_ENST00000418572.2_Silent_p.S143S|STAT2_ENST00000557235.1_Silent_p.S143S			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	147					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCAGGATCCGGGATTCAATCT	0.493000													87	148					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	30008609	30008609	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:30008609C>T	ENST00000426154.1	-	2	251	c.75G>A	c.(73-75)ggG>ggA	p.G25G	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000242059.5_Silent_p.G25G|SCRN1_ENST00000409570.1_Silent_p.G25G|SCRN1_ENST00000409497.1_Silent_p.G25G	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	25					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTGAATTTTTCCCAAATACCA	0.512000													10	20					0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68595655	68595655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:68595655C>T	ENST00000229134.4	-	5	550	c.486G>A	c.(484-486)tgG>tgA	p.W162*	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	162					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATTTTTTAATCCAGGAAAGAA	0.289000													8	21					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389530	20389530	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:20389530C>T	ENST00000315915.4	+	1	790	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	255					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)		GACCTTGCATCTTCATCTATG	0.403000													36	122					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138414689	138414689	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:138414689G>A	ENST00000409968.1	+	24	4512	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	THSD7B_ENST00000543459.1_Missense_Mutation_p.E280K|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1448Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1417Q					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)		AATAACGAACGAACTGTATGG	0.413000													9	17					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152321	72152321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:72152321C>T	ENST00000555818.1	+	10	3695	c.3347C>T	c.(3346-3348)tCc>tTc	p.S1116F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S591F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1116F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1116F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1116					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGAAGCATCTCCAGTGACGGG	0.542000													11	20					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457480	27457480	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:27457480G>A	ENST00000316403.10	-	7	1386	c.981C>T	c.(979-981)ctC>ctT	p.L327L	CLU_ENST00000405140.3_Silent_p.L327L|CLU_ENST00000560366.1_Silent_p.L379L|CLU_ENST00000546343.1_Silent_p.L338L|CLU_ENST00000523500.1_Silent_p.L327L			P10909	CLUS_HUMAN	clusterin	327					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.L379L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GGGATTCGTCGAGCTCCCGCC	0.552000													14	13					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022077	18022077	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:18022077C>T	ENST00000262608.8	+	15	2182	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	CECR2_ENST00000400585.2_Missense_Mutation_p.P586S|CECR2_ENST00000400573.4_Missense_Mutation_p.P727S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	769					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)		ACCAGACTTTCCTGAAAGCTC	0.547000													6	29					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35155350	35155350	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:35155350G>A	ENST00000373913.3	+	13	3366	c.2886G>A	c.(2884-2886)cgG>cgA	p.R962R	DLGAP4_ENST00000373907.2_Silent_p.R965R|DLGAP4_ENST00000340491.4_Silent_p.R426R|DLGAP4_ENST00000339266.5_Silent_p.R965R|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Silent_p.R962R			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	965					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)				CGGCCAAGCGGGCAGCTTCTG	0.642000													16	20					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857657	113857657	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:113857657C>T	ENST00000504030.2	+	8	1472	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	HTR3A_ENST00000299961.5_Silent_p.L328L|HTR3A_ENST00000375498.2_Silent_p.L349L|HTR3A_ENST00000535865.1_Silent_p.L87L|HTR3A_ENST00000506841.2_Silent_p.L375L|HTR3A_ENST00000355556.2_Silent_p.L381L			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	343					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)	GCCTGCTTGGCTGCGTCACCT	0.592000													21	13					0	0	1	0	0
HMGA2	8091	broad.mit.edu	37	12	66232315	66232315	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:66232315G>A	ENST00000541363.1	+	3	588	c.215G>A	c.(214-216)gGa>gAa	p.G72E	HMGA2_ENST00000393577.3_Missense_Mutation_p.G72E|HMGA2_ENST00000354636.3_Missense_Mutation_p.G72E|HMGA2_ENST00000536545.1_Missense_Mutation_p.G72E|HMGA2_ENST00000403681.2_Missense_Mutation_p.G72E|HMGA2_ENST00000425208.2_Missense_Mutation_p.G72E|HMGA2_ENST00000393578.3_Missense_Mutation_p.G72E			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	72					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GAAGCCACTGGAGAAAAACGG	0.333000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								3	9					0	0	1	0	0
MRPL24	79590	broad.mit.edu	37	1	156708369	156708369	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:156708369G>A	ENST00000368211.4	-	2	266	c.128C>T	c.(127-129)cCa>cTa	p.P43L	MRPL24_ENST00000361531.2_Missense_Mutation_p.P43L	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	43	Poly-Arg.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAACCACTGGGCGCCGCCT	0.592000													62	46					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926868	95926868	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:95926868A>G	ENST00000258499.3	-	2	1453	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	USP44_ENST00000552440.1_Missense_Mutation_p.F389L|USP44_ENST00000537435.2_Missense_Mutation_p.F389L|USP44_ENST00000393091.2_Missense_Mutation_p.F389L	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	389					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						ATGACTTGGAACAAAGTATGC	0.448000													3	74					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318760	112318760	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:112318760G>C	ENST00000369697.1	-	6	1919	c.1850C>G	c.(1849-1851)cCa>cGa	p.P617R	KCND3_ENST00000315987.2_Missense_Mutation_p.P636R|KCND3_ENST00000302127.4_Missense_Mutation_p.P617R			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	636						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTTGGGGCCTGGGCTGGCAGG	0.582000													24	50					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25270422	25270422	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:25270422G>A	ENST00000400359.4	+	13	1339	c.1332G>A	c.(1330-1332)gtG>gtA	p.V444V	SGSM1_ENST00000400358.4_Intron	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	444						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						CCGTCTCTGTGGGCCCTGCCT	0.617000													13	14					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466470	164466470	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:164466470G>A	ENST00000333129.3	-	3	2186	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	624						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						AAATTACTACGATTTGGTCCT	0.448000													24	62					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021143	41021143	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:41021143G>A	ENST00000244669.2	+	1	101	c.57G>A	c.(55-57)gaG>gaA	p.E19E		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	19					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAATGGGGAGGATCTGGAGA	0.592000													54	28					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464126	141464126	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:141464126C>T	ENST00000247879.2	+	1	230	c.168C>T	c.(166-168)atC>atT	p.I56I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	56					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)					TCTTGAGGATCATTCTGCTGT	0.383000													61	178					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304997	10304997	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:10304997C>T	ENST00000403437.2	-	23	2888	c.2794G>A	c.(2794-2796)Gag>Aag	p.E932K	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	932					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						ATCTCTTCCTCCTCCTCAGCT	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				79	154					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891674	18891674	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:18891674C>T	ENST00000317658.3	+	1	630	c.472C>T	c.(472-474)Cac>Tac	p.H158Y		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	158					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CATTGAAGATCACAACTATGA	0.368000													18	33					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912104	87912104	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:87912104A>C	ENST00000380079.4	-	3	937	c.836T>G	c.(835-837)tTc>tGc	p.F279C	AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.F279C|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	279	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CCAGTCTGGGAATCGACGGTA	0.478000													11	26					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48572950	48572950	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:48572950C>T	ENST00000232375.3	-	9	1094	c.982G>A	c.(982-984)Gat>Aat	p.D328N	PFKFB4_ENST00000383734.2_Missense_Mutation_p.D328N|PFKFB4_ENST00000416568.1_Intron|PFKFB4_ENST00000545984.1_Intron|PFKFB4_ENST00000541519.1_Missense_Mutation_p.D294N|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.D317N	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	328	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)		ACTACCGCATCGATCTCGTTG	0.547000													10	12					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12313730	12313730	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:12313730G>A	ENST00000256186.2	+	2	306	c.15G>A	c.(13-15)aaG>aaA	p.K5K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	5					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CACCTCCTAAGGACccttctc	0.423000													17	27					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098866	11098866	+	RNA	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:11098866C>T	ENST00000470054.1	-	0	59									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)		gcctccaactcccccttctcc	0.617000													7	18					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42116122	42116122	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:42116122C>T	ENST00000457542.2	+	29	4362	c.4076C>T	c.(4075-4077)cCc>cTc	p.P1359L	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P1365L|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P1198L|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P1242L|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1365										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CATCCTGGGCCCAGCAGCCCC	0.612000													34	57					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523952	23523952	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:23523952C>T	ENST00000305877.8	+	1	1556	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	BCR_ENST00000359540.3_Missense_Mutation_p.P269S|BCR_ENST00000398512.5_Missense_Mutation_p.P269S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	269	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						CGGTAGCAGGCCCCCTTGGCC	0.672000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								14	42					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155261669	155261669	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:155261669G>A	ENST00000392414.3	-	10	1516	c.1403C>T	c.(1402-1404)tCt>tTt	p.S468F	PKLR_ENST00000342741.4_Missense_Mutation_p.S499F	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	499			A -> G (in PKRD).|A -> V (in PKRD; Hadano).		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	p.S499F(1)		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)	AGCCTGGGCAGAGCGGGTGAC	0.602000													26	78					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949469	49949469	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49949469G>A	ENST00000257981.6	+	12	2463	c.2203G>A	c.(2203-2205)Ggg>Agg	p.G735R		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	735					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						GGAGACAGATGGGGAGCAGGG	0.637000													3	15					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32097592	32097592	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:32097592A>C	ENST00000375250.5	-	17	2502	c.2261T>G	c.(2260-2262)tTc>tGc	p.F754C	ARHGAP12_ENST00000396144.4_Missense_Mutation_p.F779C|ARHGAP12_ENST00000311380.4_Missense_Mutation_p.F732C|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.F732C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.F784C	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	784	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.F784S(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GAGATGTCGGAAAAGAATCTG	0.507000													46	60					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751462	19751462	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:19751462G>T	ENST00000400113.3	-	4	765	c.661C>A	c.(661-663)Cgt>Agt	p.R221S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	221					'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)		TACGTGGGACGCTCGATGTCC	0.562000													5	109					0.217242	0.218337	1	1	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824280	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:54824280C>T	ENST00000243911.2	+	1	493	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	164					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)			TCTGCATCTCCCTGGTGGCCT	0.557000													18	38					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190439984	190439984	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:190439984G>A	ENST00000261024.2	-	3	600	c.174C>T	c.(172-174)ctC>ctT	p.L58L	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	58					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)			CTGTCAAAAGGAGGCTGTTTC	0.478000													36	70					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67478535	67478535	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:67478535A>C	ENST00000290949.3	-	3	527	c.377T>G	c.(376-378)gTg>gGg	p.V126G	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.V167G|ATP6V0D1_ENST00000602876.1_Missense_Mutation_p.V49G	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	126					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCACTTGGGCACGAGCTCAGC	0.567000													8	22					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059844	141059844	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:141059844G>A	ENST00000239440.4	-	2	275	c.210C>T	c.(208-210)tcC>tcT	p.S70S	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	70					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGGGATCCAGGGAGCCCTCTT	0.642000													9	58					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132562024	132562024	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:132562024A>G	ENST00000333577.4	+	54	9395	c.9286A>G	c.(9286-9288)Act>Gct	p.T3096A	EP400_ENST00000330386.6_Missense_Mutation_p.T2979A|EP400_ENST00000389562.2_Missense_Mutation_p.T3059A|EP400_ENST00000389561.2_Missense_Mutation_p.T3060A|EP400_ENST00000332482.4_Missense_Mutation_p.T3023A			Q96L91	EP400_HUMAN	E1A binding protein p400	3096					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGTGACCGCGACTGCCCAGGT	0.657000													20	56					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387725	77387725	+	Missense_Mutation	SNP	G	G	A	rs147429761		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:77387725G>A	ENST00000282849.5	-	10	1937	c.1519C>T	c.(1519-1521)Ccg>Tcg	p.P507S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	507	Disintegrin.				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						AGTTTGTCCGGATATTTATAC	0.433000													27	37					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237731	134237731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:134237731C>T	ENST00000250160.6	+	4	815	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	WISP1_ENST00000377863.2_Missense_Mutation_p.R65W|WISP1_ENST00000220856.6_Missense_Mutation_p.R150W|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	237	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	p.R237R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|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)			GGTCTCCACTCGGATCTCCAA	0.597000													48	35					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708309	152708309	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:152708309C>T	ENST00000367255.5	-	54	8986	c.8385G>A	c.(8383-8385)gcG>gcA	p.A2795A	SYNE1_ENST00000423061.1_Silent_p.A2802A|SYNE1_ENST00000341594.5_Silent_p.A2834A|SYNE1_ENST00000448038.1_Silent_p.A2802A|SYNE1_ENST00000265368.4_Silent_p.A2795A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2795			A -> V (in dbSNP:rs214950).		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)		CCCTGGACTTCGCAATTAGAC	0.488000										HNSCC(10;0.0054)			25	20					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74006208	74006208	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:74006208G>A	ENST00000301607.3	-	22	3331	c.3078C>T	c.(3076-3078)ccC>ccT	p.P1026P	EVPL_ENST00000586740.1_Silent_p.P1048P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1026	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						TGTCCAGGCCGGGGTCCCTCT	0.647000													28	79					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19744923	19744923	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:19744923G>A	ENST00000203556.4	-	19	2298	c.2161C>T	c.(2161-2163)Ccg>Tcg	p.P721S	GMIP_ENST00000587238.1_Missense_Mutation_p.P695S|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.P692S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	721	Rho-GAP.				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						CCGTCCGGCGGCCGCAGCAGT	0.612000													13	36					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47378548	47378548	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:47378548G>A	ENST00000294947.2	-	3	283	c.248C>T	c.(247-249)cCa>cTa	p.P83L	C2orf61_ENST00000445927.2_Missense_Mutation_p.P83L|CALM2_ENST00000422269.1_5'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	83								p.P83L(2)|p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CACAAGAGGTGGCTTTTTCCT	0.398000													46	61					0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123517193	123517193	+	Missense_Mutation	SNP	G	G	A	rs117488620	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123517193G>A	ENST00000223026.4	+	5	2068	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q	HYAL4_ENST00000476325.1_Missense_Mutation_p.R477Q	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	477					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						GCAAGTTATCGAAGCATTCAG	0.393000													14	60					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53292602	53292602	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:53292602C>T	ENST00000552551.1	-	7	1495	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	KRT8_ENST00000546897.1_Missense_Mutation_p.E355K|KRT8_ENST00000293308.6_Missense_Mutation_p.E355K|KRT8_ENST00000552150.1_Missense_Mutation_p.E383K			P05787	K2C8_HUMAN	keratin 8	355	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCTCCAGCTCGGACAACTTG	0.642000													19	44					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105561083	105561083	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:105561083G>A	ENST00000369774.4	-	2	386	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S37F			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	37	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GATAGTCTGGGAGGTGGAGTC	0.527000													15	19					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95558352	95558352	+	RNA	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:95558352C>T	ENST00000568768.1	-	0	476																											CAACTACCACCAACCGGTGAA	0.433000													10	11					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110968380	110968380	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:110968380C>A	ENST00000409246.1	+	11	1285	c.960C>A	c.(958-960)ttC>ttA	p.F320L	RAD9B_ENST00000409778.3_Intron|RAD9B_ENST00000409425.1_Missense_Mutation_p.F320L|RAD9B_ENST00000409300.1_Missense_Mutation_p.F392L|RAD9B_ENST00000392672.4_Missense_Mutation_p.F392L			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	389					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						AAGAACACTTCAACCACCCTT	0.423000													19	50					1.33834e-09	1.35877e-09	1	1	0
PDLIM5	10611	broad.mit.edu	37	4	95575610	95575610	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:95575610G>A	ENST00000317968.4	+	10	1419		c.e10-1		PDLIM5_ENST00000514743.1_Splice_Site|PDLIM5_ENST00000437932.1_Splice_Site|PDLIM5_ENST00000380176.3_Splice_Site|PDLIM5_ENST00000542407.1_Splice_Site	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5						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)		TCTTCTGTCAGAGGACCATTC	0.403000													20	32					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567357	10567357	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:10567357G>A	ENST00000396560.2	+	9	1675	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	ATF7IP2_ENST00000543967.1_Missense_Mutation_p.G27E|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G483E|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G483E|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G483E	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ATTACATCAGGAAATTCTAGC	0.269000													11	28					0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212840	131212840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:131212840G>A	ENST00000298542.4	-	12	1380	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L	FRMD7_ENST00000464296.1_Missense_Mutation_p.P387L|FRMD7_ENST00000370879.1_Missense_Mutation_p.P282L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	402					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			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)					TAGCAATGTGGGATCCGCCTC	0.498000													49	41					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116758425	116758425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:116758425C>T	ENST00000331677.3	+	7	3238	c.2794C>T	c.(2794-2796)Caa>Taa	p.Q932*	DSE_ENST00000452085.3_Nonsense_Mutation_p.Q932*|DSE_ENST00000359564.2_Nonsense_Mutation_p.Q932*|DSE_ENST00000537543.1_Nonsense_Mutation_p.Q951*			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	932					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)		CCTACATGGCCAAAGATGTCT	0.388000													17	16					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675068	40675068	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:40675068G>A	ENST00000416151.2	+	1	147	c.32G>A	c.(31-33)aGa>aAa	p.R11K	KNSTRN_ENST00000249776.8_Missense_Mutation_p.R11K|KNSTRN_ENST00000448395.2_Missense_Mutation_p.R11K	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CCCCTGGACAGAGTTTTCCGT	0.592000													6	15					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035897	145035897	+	Silent	SNP	A	A	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:145035897A>T	ENST00000360771.4	-	6	496	c.381T>A	c.(379-381)ccT>ccA	p.P127P	GYPA_ENST00000324022.10_Silent_p.P94P|GYPA_ENST00000504786.1_Silent_p.P95P|GYPA_ENST00000512064.1_Silent_p.P114P|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Silent_p.P82P|GYPA_ENST00000512789.1_Silent_p.P62P|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000535709.1_Silent_p.P101P	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	127					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GTGAGGGGAGAGGTTTTACAT	0.333000													11	21					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695524	170695524	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:170695524G>A	ENST00000239461.6	+	3	894	c.581G>A	c.(580-582)gGg>gAg	p.G194E	PRRX1_ENST00000367760.3_Missense_Mutation_p.G194E|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.G194E	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTCCTGGGGGACAGCGTCT	0.567000													22	43					0	0	1	0	0
ERCC5	2073	broad.mit.edu	37	13	103518694	103518694	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:103518694C>T	ENST00000355739.4	+	10	3705	c.2282C>T	c.(2281-2283)gCt>gTt	p.A761V	ERCC5_ENST00000375954.1_5'UTR|BIVM-ERCC5_ENST00000602836.1_Silent_p.R1186R	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAACGGATCGCTGCTACTGTC	0.498000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				17	30					0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241075731	241075731	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:241075731C>T	ENST00000307266.3	-	1	33	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		AGGCTCACTTCCGGCCTCAGA	0.741000													4	9					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40895287	40895287	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:40895287C>T	ENST00000295974.8	-	11	2022	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	APBB2_ENST00000506352.1_Missense_Mutation_p.G444R|APBB2_ENST00000513140.1_Missense_Mutation_p.G444R|APBB2_ENST00000508593.1_Missense_Mutation_p.G466R	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	465	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTACCTCTCCCCAAATCCCG	0.522000													29	46					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537307	36537307	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:36537307C>T	ENST00000424878.2	-	4	2698	c.550G>A	c.(550-552)Gag>Aag	p.E184K	APOL3_ENST00000397293.2_Missense_Mutation_p.E313K|APOL3_ENST00000349314.2_Missense_Mutation_p.E384K|APOL3_ENST00000361710.2_Missense_Mutation_p.E184K|APOL3_ENST00000397287.2_Missense_Mutation_p.E184K			O95236	APOL3_HUMAN	apolipoprotein L, 3	384					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						ATTAGATTCTCCTCCAGCTCC	0.552000													26	56					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514167	157514167	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:157514167C>T	ENST00000361835.3	-	5	886	c.729G>A	c.(727-729)ccG>ccA	p.P243P	FCRL5_ENST00000368189.3_Silent_p.P243P|FCRL5_ENST00000368190.3_Silent_p.P243P|FCRL5_ENST00000356953.4_Silent_p.P243P|FCRL5_ENST00000368191.3_Silent_p.P158P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	243	Ig-like C2-type 2.					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)				TCTGGAAATTCGGGGAGAGAC	0.527000													114	96					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923417	89923417	+	Silent	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:89923417T>C	ENST00000405460.2	+	7	1158	c.1062T>C	c.(1060-1062)atT>atC	p.I354I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	354	Calx-beta 3.				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)		TACCGGAGATTGCTGAATCGT	0.363000													47	65					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831458	47831458	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:47831458T>A	ENST00000359568.5	+	28	5578	c.5471T>A	c.(5470-5472)cTc>cAc	p.L1824H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1824					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)					CAGCAGCGCCTCCAGGGCGCA	0.692000													10	19					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56307512	56307512	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:56307512C>T	ENST00000443188.1	-	8	2986	c.2276G>A	c.(2275-2277)aGg>aAg	p.R759K	NLRP11_ENST00000589093.1_Missense_Mutation_p.R759K|NLRP11_ENST00000360133.3_Missense_Mutation_p.R705K|NLRP11_ENST00000589824.2_Missense_Mutation_p.R705K|NLRP11_ENST00000592953.1_Missense_Mutation_p.R660K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	759							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)		CCCGTCGCTCCTCAGCGGATT	0.493000													40	61					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003536	42003536	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:42003536C>T	ENST00000219905.7	+	8	3254	c.3073C>T	c.(3073-3075)Ctt>Ttt	p.L1025F	MGA_ENST00000570161.1_Missense_Mutation_p.L1025F|MGA_ENST00000566586.1_Missense_Mutation_p.L1025F|MGA_ENST00000389936.4_Missense_Mutation_p.L1025F|MGA_ENST00000545763.1_Missense_Mutation_p.L1025F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1025						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)		AACAACTCTACTTACAGCTCA	0.448000													10	13					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71235360	71235360	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:71235360C>T	ENST00000418814.2	+	15	3187	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	FAM135A_ENST00000505868.1_Missense_Mutation_p.S858F|FAM135A_ENST00000457062.2_Missense_Mutation_p.S645F|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.S662F|FAM135A_ENST00000370479.3_Missense_Mutation_p.S645F	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	858										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCTAAGAAATCTGTTGTACCT	0.353000													7	23					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607561	68607561	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:68607561C>T	ENST00000234313.7	+	2	323	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	48	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.I48I(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGGAATGATCCCGCTGAAAG	0.468000													10	30					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98254243	98254243	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:98254243C>T	ENST00000265634.3	+	3	818	c.653C>T	c.(652-654)gCc>gTc	p.A218V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	218					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCAATAGCGCCTTTAAGTCA	0.587000													69	147					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586576	33586576	+	Silent	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:33586576C>A	ENST00000299977.4	+	2	1015	c.867C>A	c.(865-867)ctC>ctA	p.L289L	SLFN5_ENST00000592325.1_Silent_p.L289L|SLFN5_ENST00000542451.1_Silent_p.L289L	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	289					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGGGGGCCCTCCGTGGATATG	0.473000													45	60					7.88023e-25	8.25253e-25	1	1	0
GPN2	54707	broad.mit.edu	37	1	27212479	27212479	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:27212479G>A	ENST00000374135.4	-	3	914	c.714C>T	c.(712-714)atC>atT	p.I238I	GPN2_ENST00000374133.3_Silent_p.I59I	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	238							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TGTTGAGAGGGATAAAGGAGA	0.507000													19	36					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149321	70149321	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:70149321C>T	ENST00000550536.1	+	2	638	c.181C>T	c.(181-183)Cct>Tct	p.P61S	RAB3IP_ENST00000247833.7_Missense_Mutation_p.P45S|RAB3IP_ENST00000483530.2_Missense_Mutation_p.P45S|RAB3IP_ENST00000378815.6_Missense_Mutation_p.P45S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.P61S|RAB3IP_ENST00000325555.9_5'UTR	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	61					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CCGGCCACACCCTTCAGCTTT	0.463000													33	47					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827123	143827123	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:143827123G>A	ENST00000408899.2	+	1	973	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACTGAGGAAGGAGAGGCTGA	0.483000													55	129					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149630366	149630366	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:149630366G>A	ENST00000348628.6	-	10	1366	c.701C>T	c.(700-702)tCg>tTg	p.S234L	CAMK2A_ENST00000398376.3_Missense_Mutation_p.S234L	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	234	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S234L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATTCCGGCGATGGGAACTG	0.617000													25	43					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587958	68587958	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:68587958G>A	ENST00000478136.1	+	4	801	c.311G>A	c.(310-312)gGa>gAa	p.G104E	FAM19A1_ENST00000496687.1_Missense_Mutation_p.G104E	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	104						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGCCTAGAAGGAGAAGAATGT	0.428000													19	24					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41016023	41016023	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:41016023T>C	ENST00000295974.8	-	6	1041	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	APBB2_ENST00000506352.1_Missense_Mutation_p.K138E|APBB2_ENST00000513140.1_Missense_Mutation_p.K138E|APBB2_ENST00000508593.1_Missense_Mutation_p.K138E	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	138					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGGGCTCTTTACCCTCTAAC	0.512000													23	44					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586700	121586700	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:121586700C>T	ENST00000361976.2	+	20	2973	c.2807C>T	c.(2806-2808)cCt>cTt	p.P936L	INPP5F_ENST00000369080.3_Missense_Mutation_p.P326L	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	936							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)		CAGGAGTCTCCTTTGAAGAAA	0.483000													21	35					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78325563	78325563	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:78325563C>T	ENST00000582970.1	+	32	10406	c.10263C>T	c.(10261-10263)tcC>tcT	p.S3421S	RNF213_ENST00000336301.6_Silent_p.S1494S|RNF213_ENST00000508628.2_Silent_p.S3470S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAAACTGTCCCGGGTGGGAA	0.343000													12	30					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25994344	25994344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:25994344G>A	ENST00000435504.4	-	6	762	c.469C>T	c.(469-471)Cca>Tca	p.P157S	ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.P129S			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	157	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGTGATGGAGAAATGACT	0.433000													7	9					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102958733	102958733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:102958733G>A	ENST00000311734.2	+	6	1000	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	IL1RL1_ENST00000404917.2_Missense_Mutation_p.E104K|IL1RL1_ENST00000409584.1_Missense_Mutation_p.E221K|IL1RL1_ENST00000233954.1_Missense_Mutation_p.E221K			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	221	Ig-like C2-type 3.				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						TGCACAAAATGAAATAAAGGA	0.363000													9	33					0	0	1	0	0
RINL	126432	broad.mit.edu	37	19	39361342	39361342	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39361342G>A	ENST00000340740.3	-	8	937	c.550C>T	c.(550-552)Ccg>Tcg	p.P184S	RINL_ENST00000602238.1_Intron|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Missense_Mutation_p.P184S|RINL_ENST00000591812.1_Missense_Mutation_p.P298S	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	184							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCCGTGGCCGGGTCCCCAGAC	0.642000													14	17					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400320	89400320	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:89400320G>A	ENST00000439576.2	+	12	4878	c.4504G>A	c.(4504-4506)Gga>Aga	p.G1502R	ACAN_ENST00000352105.7_Missense_Mutation_p.G1502R|ACAN_ENST00000561243.1_Missense_Mutation_p.G1502R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1502R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1502					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)			TTCTGCCTCTGGAATAGAGGA	0.498000													21	42					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33630347	33630347	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:33630347C>T	ENST00000374316.5	+	9	1814	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	ITPR3_ENST00000605930.1_Silent_p.L252L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	252	MIR 3.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGAGAAGTTCCTGACGTGTGA	0.632000													8	18					0	0	1	0	0
CCDC51	79714	broad.mit.edu	37	3	48475220	48475220	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:48475220A>G	ENST00000395694.2	-	3	459	c.374T>C	c.(373-375)gTt>gCt	p.V125A	CCDC51_ENST00000447018.1_Missense_Mutation_p.V16A|CCDC51_ENST00000412398.2_Missense_Mutation_p.V16A|CCDC51_ENST00000442740.1_Missense_Mutation_p.V16A|CCDC51_ENST00000395696.1_Missense_Mutation_p.V125A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	125						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)		GGCCTGGTGAACTTCCAAGTC	0.577000													34	56					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689216	43689216	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:43689216C>T	ENST00000404580.1	-	2	236	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSG5_ENST00000366175.3_Missense_Mutation_p.D50N|PSG5_ENST00000407568.1_Missense_Mutation_p.D50N|PSG5_ENST00000342951.6_Missense_Mutation_p.D50N|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000407356.1_Missense_Mutation_p.D50N|PSG5_ENST00000599812.1_Missense_Mutation_p.D50N			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	50	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGAAGAACATCCTTCCCCTCG	0.453000													35	103					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700666	136700666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:136700666C>T	ENST00000445907.2	+	3	1582	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.Q352*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.Q352*|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.Q352*|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	352					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTCTTCAGGTCAGAATGGAGA	0.463000													25	60					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			100	54					0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111927132	111927132	+	Silent	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:111927132A>G	ENST00000421043.1	+	2	316	c.296A>G	c.(295-297)tAa>tGa	p.*99*	ZNF277_ENST00000450657.1_Intron|ZNF277_ENST00000361822.3_Intron			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	0						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTCCAAAGGTAAGTTCTGTTT	0.408000													18	37					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462668	5462668	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:5462668G>A	ENST00000345221.3	-	4	1902	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S	NLRP1_ENST00000262467.5_Missense_Mutation_p.P450S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P450S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P450S|NLRP1_ENST00000354411.3_Missense_Mutation_p.P450S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P450S	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	450	NACHT.				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)				GATGCCTCGGGAAGTATAGTT	0.582000													6	16					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849176	20849176	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:20849176G>A	ENST00000262715.5	-	33	4716	c.4676C>T	c.(4675-4677)tCg>tTg	p.S1559L	TEP1_ENST00000556935.1_Missense_Mutation_p.S1451L|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1559					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)		AAGGAACTTCGAAAGAAGTCC	0.522000													15	20					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41515131	41515131	+	Silent	SNP	A	A	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:41515131A>T	ENST00000239882.3	-	8	1496	c.1182T>A	c.(1180-1182)gcT>gcA	p.A394A	ELF1_ENST00000442101.1_Silent_p.A370A|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	394					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTCTGGGACAGCCTGTACTG	0.473000													19	30					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199629	20199629	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:20199629C>T	ENST00000400331.5	-	5	663	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	MACC1_ENST00000332878.4_Missense_Mutation_p.E119K|MACC1_ENST00000589011.1_Missense_Mutation_p.E119K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	119					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACATCAAGTTCATCACCGGAG	0.348000													6	11					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251604	51251604	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:51251604G>A	ENST00000266037.9	+	14	1201	c.1178G>A	c.(1177-1179)aGa>aAa	p.R393K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	393						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)		CAGATTCGGAGAGAAAATCCC	0.408000													10	9					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:55725661C>T	ENST00000379667.1	+	1	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000													31	61					0	0	1	0	0
B3GALT2	8707	broad.mit.edu	37	1	193149577	193149577	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:193149577C>T	ENST00000367434.4	-	2	1871	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	372					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						ATTTACAGCTCGAATAAGAGA	0.418000													27	35					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813988	60813988	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:60813988C>G	ENST00000544856.2	-	7	1616	c.1238G>C	c.(1237-1239)gGt>gCt	p.G413A	MARCH10_ENST00000456609.2_Missense_Mutation_p.G414A|MARCH10_ENST00000311269.5_Missense_Mutation_p.G414A|MARCH10_ENST00000583600.1_Missense_Mutation_p.G452A|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	414							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGCATTGACACCAACCTCTTG	0.453000													20	47					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41668062	41668062	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:41668062C>T	ENST00000400454.1	-	10	2579	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	701	Ig-like C2-type 8.				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)				GCCATAAATCCCGTCCTGGTC	0.438000													15	26					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278967	152278967	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:152278967C>T	ENST00000368799.1	-	3	8430	c.8395G>A	c.(8395-8397)Ggg>Agg	p.G2799R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2799	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)			TGGTGGTACCCCTGCCTTCCT	0.612000									Ichthyosis				176	626					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029549	41029549	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:41029549G>T	ENST00000244669.2	+	2	658	c.614G>T	c.(613-615)tGg>tTg	p.W205L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	205					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TTTCAGCCCTGGGAGGACATT	0.517000													37	37					5.71845e-15	5.92639e-15	1	1	0
CHGB	1114	broad.mit.edu	37	20	5903688	5903688	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:5903688C>T	ENST00000378961.4	+	4	1102	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	300						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						AGGGAGTCTTCCCTCTGAGGA	0.582000													6	14					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222316	140222316	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140222316G>A	ENST00000531613.1	+	1	1410	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P470P|PCDHA5_ENST00000529859.1_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)			ACAACCCGCCGGGCTGCCACA	0.672000													47	13					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225556	21225556	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:21225556G>A	ENST00000233242.1	-	29	12865	c.12738C>T	c.(12736-12738)ttC>ttT	p.F4246F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4246					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)	CTAGGTCTTGGAAATAGGAAA	0.378000													25	51					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40895286	40895286	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr4:40895286C>A	ENST00000295974.8	-	11	2023	c.1394G>T	c.(1393-1395)gGa>gTa	p.G465V	APBB2_ENST00000506352.1_Missense_Mutation_p.G444V|APBB2_ENST00000513140.1_Missense_Mutation_p.G444V|APBB2_ENST00000508593.1_Missense_Mutation_p.G466V	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	465	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ACTTACCTCTCCCCAAATCCC	0.527000													29	46					1.75199e-13	1.80631e-13	1	1	0
OR5B17	219965	broad.mit.edu	37	11	58125889	58125889	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:58125889G>A	ENST00000357377.3	-	1	653	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATCAATATGAACAGATAGG	0.353000													14	38					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548823	158548823	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158548823G>A	ENST00000368150.1	-	1	866	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAGTATAAGGGACTGCTATGA	0.443000													35	68					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:56431806C>T	ENST00000302969.2	+	1	669	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488000													35	48					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49949470	49949470	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:49949470G>A	ENST00000257981.6	+	12	2464	c.2204G>A	c.(2203-2205)gGg>gAg	p.G735E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	735					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						GAGACAGATGGGGAGCAGGGC	0.637000													3	14					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45644571	45644571	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:45644571C>T	ENST00000267430.5	+	14	2699	c.2614C>T	c.(2614-2616)Cac>Tac	p.H872Y	FANCM_ENST00000542564.2_Missense_Mutation_p.H846Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	872					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						AGAAAATAATCACGGTATTAT	0.259000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	36					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47684587	47684587	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:47684587C>T	ENST00000525123.1	-	18	2811	c.2526G>A	c.(2524-2526)ggG>ggA	p.G842G	AGBL2_ENST00000357610.3_Silent_p.G844G|AGBL2_ENST00000298861.4_Silent_p.G842G	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	842					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CCTGCATTCTCCCTTTATTCT	0.363000													42	63					0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890383	229890383	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:229890383C>T	ENST00000392054.3	-	4	1051	c.712G>A	c.(712-714)Gag>Aag	p.E238K	PID1_ENST00000392055.3_Missense_Mutation_p.E207K|PID1_ENST00000354069.6_Missense_Mutation_p.E240K|PID1_ENST00000409462.1_Missense_Mutation_p.E158K|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	240	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGGGAAACCTCTTCGGAGGAG	0.527000													30	37					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556889	45556889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:45556889C>T	ENST00000347644.3	+	7	690	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	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	209					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)		CCTAGGTCTTCAATTTGTCTT	0.428000													23	51					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828698	158828698	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:158828698G>A	ENST00000262178.2	-	8	939	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	VIPR2_ENST00000377633.3_Missense_Mutation_p.P236S|VIPR2_ENST00000402066.1_Missense_Mutation_p.P393S	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	252					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CAGACGGTGGGGAGGCCTGCA	0.612000													8	23					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2613203	2613203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:2613203G>A	ENST00000397461.1	+	3	400	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	CNTN4_ENST00000418658.1_Missense_Mutation_p.E6K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E6K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	6					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)		GTTGCCATGGGAACTGCTGGT	0.368000													11	28					0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80280114	80280114	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:80280114C>T	ENST00000269389.3	-	5	1020	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	SECTM1_ENST00000580437.1_3'UTR	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	224					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGTTTGAACACCAGTGCCAGC	0.652000													18	36					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467279	56467279	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:56467279G>A	ENST00000291971.3	+	3	1926	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E619K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	619						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)		AATCCGGGAGGAAGCCTTTGT	0.458000													12	40					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363728	46363728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:46363728C>T	ENST00000291634.6	+	2	307	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	87																	CTCGAGTGCACGGAGCGTCCC	0.612000													11	19					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646583	19646583	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:19646583T>C	ENST00000457500.2	-	2	685	c.356A>G	c.(355-357)aAc>aGc	p.N119S	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.N119S|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.N119S|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.N46S|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.N119S	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	119					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GATGGTGAGGTTGAAGGGGTA	0.652000													15	21					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515471	64515471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:64515471G>A	ENST00000371079.1	+	3	647	c.272G>A	c.(271-273)tGg>tAg	p.W91*	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Nonsense_Mutation_p.W91*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	91	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACCATCCGCTGGTTCAAAAAT	0.552000													44	59					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90770342	90770342	+	Silent	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:90770342A>G	ENST00000354366.3	-	5	1174	c.942T>C	c.(940-942)ttT>ttC	p.F314F	NRDE2_ENST00000357904.3_Silent_p.F83F	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CCCTCCTGTTAAACTCCTCCA	0.537000													38	69					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906562	32906562	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:32906562G>A	ENST00000544455.1	+	10	1174	c.947G>A	c.(946-948)aGa>aAa	p.R316K	BRCA2_ENST00000380152.3_Missense_Mutation_p.R316K	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	316					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAAATGTAGAACAAAAAAT	0.299000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	23					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													4	120					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41515124	41515124	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:41515124C>T	ENST00000239882.3	-	8	1503	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	ELF1_ENST00000442101.1_Missense_Mutation_p.E373K|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	397					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCTTCTCCCTCTGGGACAGCC	0.468000													19	28					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39330913	39330913	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39330913G>A	ENST00000221419.5	-	8	1422	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	HNRNPL_ENST00000600873.1_Silent_p.H219H	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	352	Pro-rich.				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)			GGCCCCGACGGTGACCCCCCA	0.687000													4	3					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268478	57268478	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:57268478G>A	ENST00000339475.5	-	5	1145	c.869C>T	c.(868-870)tCc>tTc	p.S290F	OTX2_ENST00000408990.3_Missense_Mutation_p.S282F|OTX2_ENST00000555006.1_Missense_Mutation_p.S282F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	282					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTTCCACGAGGATGTCTGATC	0.413000													13	41					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79469075	79469075	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:79469075G>A	ENST00000376718.3	-	2	209	c.86C>T	c.(85-87)tCg>tTg	p.S29L	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Missense_Mutation_p.S29L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	29					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCACACGATTTAGGCCC	0.358000													6	21					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17056471	17056471	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:17056471C>T	ENST00000443236.1	-	22	2853	c.2822G>A	c.(2821-2823)gGa>gAa	p.G941E		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	894						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						ATTTGTGTCTCCGTAAGCAAG	0.567000													25	56					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102843271	102843271	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:102843271C>T	ENST00000359520.7	+	2	439	c.213C>T	c.(211-213)aaC>aaT	p.N71N	TECPR2_ENST00000558678.1_Silent_p.N71N|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	71							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGAAGTACAACTTTGAGGTGA	0.522000													6	13					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8524946	8524946	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:8524946G>A	ENST00000381196.4	-	15	1201	c.658C>T	c.(658-660)Cct>Tct	p.P220S	PTPRD_ENST00000540109.1_Missense_Mutation_p.P220S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P211S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P217S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P211S|PTPRD_ENST00000486161.1_Missense_Mutation_p.P220S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P220S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P220S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P214S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P217S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P214S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	220	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		aaattggcaggagcggaatag	0.512000										TSP Lung(15;0.13)			29	29					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489159	237489159	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:237489159C>T	ENST00000272928.3	+	2	361	c.51C>T	c.(49-51)atC>atT	p.I17I		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TCTCGGACATCAGCTGGCCAT	0.512000													11	23					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128167	153128167	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:153128167T>C	ENST00000370060.1	-	29	3914	c.3725A>G	c.(3724-3726)gAc>gGc	p.D1242G	L1CAM_ENST00000370057.3_Missense_Mutation_p.D1242G|L1CAM_ENST00000361699.4_Missense_Mutation_p.D1238G|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1244G|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1233G|L1CAM_ENST00000361981.3_Missense_Mutation_p.D1233G|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1240G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1242					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)					CCCTGAGCTGTCATTGCCCCC	0.607000													22	17					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532199	92532199	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:92532199T>C	ENST00000298047.6	+	9	6037	c.6020T>C	c.(6019-6021)gTt>gCt	p.V2007A	FAT3_ENST00000409404.2_Missense_Mutation_p.V2007A|FAT3_ENST00000525166.1_Missense_Mutation_p.V1857A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2007	Cadherin 18.				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)				GTCAATGCAGTTGGAAATCGC	0.423000										TCGA Ovarian(4;0.039)			74	51					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14970248	14970248	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:14970248G>T	ENST00000287667.7	+	21	2560	c.2389G>T	c.(2389-2391)Ggg>Tgg	p.G797W		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	797						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGAGATCCATGGGAAGGCAGG	0.527000													31	56					2.61193e-14	2.6999e-14	1	1	0
HCK	3055	broad.mit.edu	37	20	30671796	30671796	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:30671796C>T	ENST00000534862.1	+	8	935	c.572C>T	c.(571-573)tCc>tTc	p.S191F	HCK_ENST00000375862.2_Missense_Mutation_p.S210F|HCK_ENST00000375852.2_Missense_Mutation_p.S211F|HCK_ENST00000538448.1_Missense_Mutation_p.S190F|HCK_ENST00000520553.1_Missense_Mutation_p.S190F|HCK_ENST00000518730.1_Missense_Mutation_p.S189F	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	211	SH2.				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)			TTCTACATATCCCCCCGAAGC	0.587000													14	36					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50734090	50734090	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:50734090G>A	ENST00000442544.2	+	11	2380	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	DCC_ENST00000412726.1_Silent_p.L436L|DCC_ENST00000581580.1_Silent_p.L243L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	588	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)		TGGAAGGCCTGAAAAAATTCA	0.383000													5	56					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263619	1263619	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1263619G>A	ENST00000447027.1	+	31	5576	c.5518G>A	c.(5518-5520)Gag>Aag	p.E1840K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E1837K|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1837	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)		GAACTACCCCGAGGTAAGCAT	0.587000													20	25					0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939068	14939068	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:14939068G>A	ENST00000313519.5	+	2	452	c.221G>A	c.(220-222)aGg>aAg	p.R74K	SUV39H2_ENST00000354919.6_Missense_Mutation_p.R134K|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	134	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GCTAAACAAAGGATAGCTCTG	0.368000													17	26					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39175958	39175958	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr9:39175958C>A	ENST00000297668.6	-	7	1132	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.Q353H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.Q353H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.Q265H|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.Q353H	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	353	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATGAGGATCTGTGGTTTGT	0.353000													16	340					4.47668e-21	4.6759e-21	1	1	0
CRNN	49860	broad.mit.edu	37	1	152383101	152383101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:152383101G>A	ENST00000271835.3	-	3	519	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	153	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGTCTGAACCCCAGGC	0.602000													155	123					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109293228	109293228	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:109293228C>T	ENST00000228476.3	+	10	1093	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	DAO_ENST00000551281.1_Missense_Mutation_p.R231C	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	297					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AGAACAGCTTCGCACTGGACC	0.498000													6	11					0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24654438	24654438	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:24654438G>A	ENST00000354464.6	-	14	1535	c.1359C>T	c.(1357-1359)caC>caT	p.H453H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	453					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGGCTAGGTGGTGTGTGTGTC	0.582000													13	27					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855005	79855005	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:79855005G>A	ENST00000338682.3	-	5	1506	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	278						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGTTTTATAGGATAGTTCTT	0.468000													19	32					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107671362	107671362	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:107671362C>T	ENST00000388781.3	-	32	4964	c.4881G>A	c.(4879-4881)ctG>ctA	p.L1627L	LAMB4_ENST00000205386.4_Silent_p.L1627L|LAMB4_ENST00000483484.1_Intron|LAMB4_ENST00000388780.3_Silent_p.L1627L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1627	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCCATCCTCCAGCCCTGATC	0.483000													20	54					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606840	54606840	+	Missense_Mutation	SNP	C	C	T	rs141787724		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:54606840C>T	ENST00000371330.1	-	3	1541	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	232	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACCTGCAGTTCGTGGCCCAGA	0.637000													15	31					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65495802	65495802	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:65495802G>A	ENST00000261883.4	-	7	1092	c.926C>T	c.(925-927)cCa>cTa	p.P309L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	309	Ig-like C2-type.				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						CACCATGTATGGAGTCTCTGG	0.493000													12	31					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8784510	8784510	+	Missense_Mutation	SNP	C	C	T	rs147236744	byFrequency	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:8784510C>T	ENST00000359865.3	+	6	1542	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SOGA2_ENST00000400050.3_Missense_Mutation_p.T467M|SOGA2_ENST00000517570.1_Missense_Mutation_p.T467M|SOGA2_ENST00000306329.11_Missense_Mutation_p.T827M|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	818																	CTAGAGCGGACGGTGGAGCGC	0.677000													97	146					0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156451241	156451241	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:156451241A>G	ENST00000392741.2	+	6	749	c.661A>G	c.(661-663)Aga>Gga	p.R221G	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.R221G|RNF32_ENST00000405335.1_Missense_Mutation_p.R221G|RNF32_ENST00000317955.5_Missense_Mutation_p.R221G|RNF32_ENST00000392743.2_Missense_Mutation_p.R221G|RNF32_ENST00000343665.4_Missense_Mutation_p.R197G|RNF32_ENST00000311822.8_Missense_Mutation_p.R221G			Q9H0A6	RNF32_HUMAN	ring finger protein 32	221						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)		TGCCAAGTTAAGAAAAAAATT	0.418000													7	29					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805727	19805727	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:19805727C>T	ENST00000311322.8	+	2	595	c.125C>T	c.(124-126)gCc>gTc	p.A42V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	42					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGTAAATTTGCCCTAAGGACC	0.438000													25	17					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96875192	96875192	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:96875192G>A	ENST00000267584.4	+	4	456	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	138					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)		AGCACTCAGTGAAGAAGTCAG	0.478000													7	15					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160032985	160032985	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:160032985C>T	ENST00000263635.6	+	13	2095	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	TANC1_ENST00000454300.1_Missense_Mutation_p.P514S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	620						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						TTCTAAATTTCCTGCCTGGTT	0.318000													11	16					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450231	35450231	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:35450231G>A	ENST00000404801.1	-	4	914	c.528C>T	c.(526-528)ccC>ccT	p.P176P	ZNF792_ENST00000605484.1_Silent_p.P109P	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTGTTTCCGGGGAAGGTTTG	0.502000													72	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074964	9074964	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:9074964G>A	ENST00000397910.4	-	3	12685	c.12482C>T	c.(12481-12483)tCc>tTc	p.S4161F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4163	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						AGGTACCAGGGAAGAGGAAGA	0.483000													20	43					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582728	55582728	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:55582728C>T	ENST00000361849.3	-	34	5158	c.4764G>A	c.(4762-4764)agG>agA	p.R1588R	PCDH15_ENST00000320301.6_Silent_p.R1586R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R1546R|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R1517R|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.R1583R|PCDH15_ENST00000395433.1_Silent_p.R1563R|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1586					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)				TTGGAACTTTCCTCATCAGCC	0.468000										HNSCC(58;0.16)			40	50					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087970	92087970	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:92087970G>A	ENST00000298047.6	+	1	2709	c.2692G>A	c.(2692-2694)Gcc>Acc	p.A898T	FAT3_ENST00000409404.2_Missense_Mutation_p.A898T|FAT3_ENST00000525166.1_Missense_Mutation_p.A748T|FAT3_ENST00000541502.1_Missense_Mutation_p.A898T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	898	Cadherin 8.				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)				GGAATCCAAAGCCAATTATTC	0.418000										TCGA Ovarian(4;0.039)			29	70					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468308	120468308	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:120468308G>A	ENST00000256646.2	-	25	4350	c.4131C>T	c.(4129-4131)ggC>ggT	p.G1377G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1377	EGF-like 35.				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)		TACTGGCACAGCCTGACTCGC	0.652000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				51	27					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617384	158617384	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158617384G>A	ENST00000368148.3	-	27	4021	c.3841C>T	c.(3841-3843)Cgt>Tgt	p.R1281C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1281C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1281					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.R1281C(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)					CTCTCCTTACGATCCTTTGTA	0.547000													34	49					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377764	50377764	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:50377764G>A	ENST00000376020.2	-	4	1334	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	SHROOM4_ENST00000460112.3_Missense_Mutation_p.P321S|SHROOM4_ENST00000289292.7_Missense_Mutation_p.P437S	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	437					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGTACGGGTGGGAGCTCCATC	0.597000													23	10					0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53487495	53487495	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:53487495C>A	ENST00000262133.6	+	6	1035	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	RBL2_ENST00000544545.1_Missense_Mutation_p.P84T|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	300					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTCTGGAAACCCTATATTAG	0.353000													23	35					4.26978e-12	4.37954e-12	1	1	0
KRT37	8688	broad.mit.edu	37	17	39578598	39578598	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:39578598C>T	ENST00000225550.3	-	4	820	c.821G>A	c.(820-822)gGg>gAg	p.G274E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	274	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CCGCATCTCCCCCAACACCCT	0.572000													39	75					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50432657	50432657	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:50432657G>A	ENST00000442544.2	+	3	1272	c.656G>A	c.(655-657)aGc>aAc	p.S219N	DCC_ENST00000412726.1_Missense_Mutation_p.S67N	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	219	Ig-like C2-type 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)		AATCCAGCCAGCTCAAGAACA	0.463000													5	54					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033150	52033150	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:52033150G>A	ENST00000346477.3	-	4	860	c.792C>T	c.(790-792)ccC>ccT	p.P264P	SIGLEC6_ENST00000359982.4_Silent_p.P291P|SIGLEC6_ENST00000343300.4_Silent_p.P280P|SIGLEC6_ENST00000436458.1_Silent_p.P228P|SIGLEC6_ENST00000391797.3_Silent_p.P269P|SIGLEC6_ENST00000425629.3_Silent_p.P280P	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	280	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)		GGTGTGCAGGGGGGTTGCCGT	0.627000													19	60					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11772518	11772518	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:11772518G>T	ENST00000262442.3	+	51	10069	c.10001G>T	c.(10000-10002)tGt>tTt	p.C3334F	DNAH9_ENST00000454412.2_Missense_Mutation_p.C3334F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3334	Stalk (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)		AAACTCAAATGTCAGCAAGAA	0.488000													26	42					1.66031e-10	1.68995e-10	1	1	0
ANKRD1	27063	broad.mit.edu	37	10	92678945	92678945	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:92678945C>T	ENST00000371697.3	-	3	536	c.288G>A	c.(286-288)agG>agA	p.R96R		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	96					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TGTATTTTTTCCTTTTCTTCA	0.303000													5	17					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46580620	46580620	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:46580620G>A	ENST00000395905.3	-	4	797	c.405C>T	c.(403-405)atC>atT	p.I135I	LRRC2_ENST00000296144.3_Silent_p.I135I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	135										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATGTAGGAATGATTTGAATCA	0.378000													20	38					0	0	1	0	0
GAL3ST2	64090	broad.mit.edu	37	2	242716379	242716379	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:242716379C>T	ENST00000192314.6	+	1	140	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	3					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		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)		AGATGATGTCCATGCTGGGCG	0.652000													5	12					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324855	150324855	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:150324855C>T	ENST00000328902.5	-	3	1047	c.831G>A	c.(829-831)aaG>aaA	p.K277K	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	277							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)		CCTCAGATTCCTTCTGGATCT	0.577000													21	57					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595241	82595241	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:82595241C>T	ENST00000423517.2	-	4	4200	c.3863G>A	c.(3862-3864)gGg>gAg	p.G1288E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1288E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1227					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						TGGTTGTTTCCCTTCTTGCAC	0.413000													24	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605605	179605605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:179605605C>T	ENST00000589042.1	-	48	12579	c.12355G>A	c.(12355-12357)Gag>Aag	p.E4119K	TTN_ENST00000342175.6_Missense_Mutation_p.E3948K|TTN_ENST00000359218.5_Missense_Mutation_p.E3881K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E3802K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.E3756K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3802							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)			TTGTCTTGCTCCAAAATGGAT	0.438000													20	49					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284622	18284622	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:18284622T>A	ENST00000377369.2	+	10	1844	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	SLC39A12_ENST00000539911.1_Missense_Mutation_p.I390K|SLC39A12_ENST00000377371.3_Missense_Mutation_p.I523K|SLC39A12_ENST00000377374.4_Missense_Mutation_p.I487K	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	524					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GAAATGCCTATAGGCAGTATG	0.328000													13	23					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:161324264G>A	ENST00000428797.2	+	11	1562	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_ENST00000393943.4_Missense_Mutation_p.E403K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E403K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E403K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E403K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E403K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	403					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	p.E403K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473000													25	70					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31918648	31918648	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:31918648C>T	ENST00000396184.3	-	5	590	c.386G>A	c.(385-387)aGc>aAc	p.S129N	PDE1C_ENST00000396191.1_Missense_Mutation_p.S129N|PDE1C_ENST00000321453.7_Missense_Mutation_p.S129N|PDE1C_ENST00000396193.1_Missense_Mutation_p.S189N|PDE1C_ENST00000396182.2_Missense_Mutation_p.S129N	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	129					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)			GTGAACGATGCTCTTGAACCG	0.527000													21	48					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152582002	152582002	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:152582002G>A	ENST00000427231.2	-	6	569	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NEB_ENST00000397345.3_Missense_Mutation_p.R123C|NEB_ENST00000603639.1_Missense_Mutation_p.R123C|NEB_ENST00000172853.10_Missense_Mutation_p.R123C|NEB_ENST00000604864.1_Missense_Mutation_p.R123C|NEB_ENST00000409198.1_Missense_Mutation_p.R123C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	123					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)		TTGATTCTGCGAAGTTCTGGA	0.393000													40	60					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140248703	140248703	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140248703G>A	ENST00000398640.2	+	1	15	c.15G>A	c.(13-15)caG>caA	p.Q5Q	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_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)			TTGGTTTTCAGAGAAGGGGAT	0.488000													26	39					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342491	220342491	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:220342491C>T	ENST00000312358.7	+	21	4942	c.4810C>T	c.(4810-4812)Cac>Tac	p.H1604Y	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1604	Protein kinase 1.				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)		TTATGACATCCACCAGGAGAT	0.622000													11	27					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20129012	20129012	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:20129012C>T	ENST00000334554.7	+	9	1225	c.1084C>T	c.(1084-1086)Ccc>Tcc	p.P362S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270S|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362S|ZDHHC8_ENST00000468112.1_3'UTR	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	362						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCCGGCTTTCCCCACGGGTCC	0.662000													10	15					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927228	22927228	+	Silent	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:22927228G>T	ENST00000166244.3	+	14	2535	c.2463G>T	c.(2461-2463)gtG>gtT	p.V821V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	821	Protein kinase.					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)		CCAGCGACGTGTGGAGCTTCG	0.657000													32	81					3.03874e-20	3.16568e-20	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858266	9858266	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr16:9858266G>A	ENST00000396573.2	-	14	3444	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	GRIN2A_ENST00000330684.3_Silent_p.S1045S|GRIN2A_ENST00000396575.2_Silent_p.S1045S|GRIN2A_ENST00000562109.1_Silent_p.S1045S|GRIN2A_ENST00000535259.1_Silent_p.S888S|GRIN2A_ENST00000404927.2_Silent_p.S1045S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1045					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			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)	GGCTCTTTAGGGAGTGGGTCC	0.512000													42	91					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576822	158576822	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:158576822G>A	ENST00000361284.1	+	1	594	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGAGCTGAGGATCTTTATCC	0.512000													38	56					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577400	90577400	+	RNA	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:90577400C>T	ENST00000551025.1	+	0	5828							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCTGATATGTCGTCCAGTTCA	0.408000													15	3					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768044	33768044	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:33768044T>C	ENST00000285013.6	-	6	2539	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SLFN13_ENST00000533791.1_Missense_Mutation_p.N755S|SLFN13_ENST00000360502.2_Missense_Mutation_p.N437S|SLFN13_ENST00000542635.1_Missense_Mutation_p.N755S|SLFN13_ENST00000526861.1_Missense_Mutation_p.N755S|SLFN13_ENST00000534689.1_Missense_Mutation_p.N437S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	755						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGGGGGATATTAATTGGAGG	0.383000													37	49					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266544	124266544	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:124266544G>A	ENST00000354597.3	-	1	720	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	235					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)		GAAGGCTTTTGATCTTCCTTG	0.378000													23	23					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340573	121340573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:121340573G>A	ENST00000338040.4	+	3	711	c.297G>A	c.(295-297)tgG>tgA	p.W99*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	99					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)		CCATGGAGTGGAACCGCTGGC	0.582000													27	46					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25468221	25468221	+	RNA	SNP	G	G	A	rs138842015	by1000genomes	TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:25468221G>A	ENST00000453082.2	+	0	769					NR_003343.1																						GAGACTTGAGGAAGACTTCCA	0.612000													6	9					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945600	144945600	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:144945600C>T	ENST00000525985.1	-	2	1893	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S				P58107	EPIPL_HUMAN	epiplakin 1	608						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)			CAGCCCGTACCCTGCAGGTAC	0.662000													5	13					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560645	32560645	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:32560645C>T	ENST00000345122.3	+	2	1085	c.770C>T	c.(769-771)cCc>cTc	p.P257L	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P257L|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P257L|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P257L	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	257					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAATTATTCCCTATTTGGAT	0.363000													29	73					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17370097	17370097	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:17370097C>T	ENST00000252597.3	-	7	1220		c.e7+1		USHBP1_ENST00000431146.2_Splice_Site	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1								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						GGTGCACTGACCTGTACTGCA	0.612000													11	23					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498504	61498504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:61498504C>T	ENST00000424789.2	+	25	5165	c.5161C>T	c.(5161-5163)Cag>Tag	p.Q1721*	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Nonsense_Mutation_p.Q1731*	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1721							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						CGGACGCAGCCAGTCAGCATC	0.527000													40	111					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54492241	54492241	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chrX:54492241G>A	ENST00000375135.3	-	7	2118	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	462	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTGAGGAAGGGGGCCAGTTT	0.542000													10	10					0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31996586	31996586	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:31996586C>T	ENST00000435363.2	+	26	3431	c.3347C>T	c.(3346-3348)tCg>tTg	p.S1116L	C4B_ENST00000425700.2_Missense_Mutation_p.S1116L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTGACGGCTCGTTCCAGGAC	0.602000													35	114					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392850	124392850	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr10:124392850G>A	ENST00000338354.3	+	49	6260	c.6154G>A	c.(6154-6156)Gat>Aat	p.D2052N	DMBT1_ENST00000344338.3_Missense_Mutation_p.D2042N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2042N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D2052N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D772N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1424N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1424N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2052	CUB 2.				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)				GATCTTCAGAGATGTCCAGTA	0.498000													9	25					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806473	93806473	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:93806473G>A	ENST00000315765.9	+	8	1380		c.e8-1			NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1						copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTTTTTCAGGCCCAGTCAT	0.433000													12	7					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100838895	100838895	+	Missense_Mutation	SNP	C	C	T	rs149460504		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:100838895C>T	ENST00000369208.3	-	12	2425	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	SIM1_ENST00000262901.4_Missense_Mutation_p.R548Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	548	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)		AGTACGATATCGGTCACCTGA	0.428000													18	11					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306778	41306778	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:41306778G>A	ENST00000373198.3	-	7	1116	c.881C>T	c.(880-882)cCc>cTc	p.P294L	PTPRT_ENST00000373184.1_Missense_Mutation_p.P294L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P294L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P294L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P294L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P294L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P294L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	294	Fibronectin type-III 1.				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	p.P294L(1)		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)				CAGCTCTGGGGGAGCAATGGG	0.512000													11	10					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730243	141730243	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:141730243G>A	ENST00000475668.2	+	11	1357	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	MGAM_ENST00000549489.2_Missense_Mutation_p.E435K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	435	Maltase.				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)	AGGCTTCCCTGAATTTGTCAA	0.383000													9	29					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140228398	140228398	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:140228398G>A	ENST00000378122.3	+	1	1042	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L106L|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_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)			GCATCCACCTGGAGGTGATCG	0.547000													26	20					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135679	55135679	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55135679C>T	ENST00000314706.3	+	1	320	c.320C>T	c.(319-321)cCc>cTc	p.P107L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCATTTGCTCCCAAAATGATT	0.418000													26	74					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66838466	66838466	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:66838466C>T	ENST00000359742.4	-	13	1825	c.1585G>A	c.(1585-1587)Gga>Aga	p.G529R	GRIP1_ENST00000286445.7_Missense_Mutation_p.G529R|GRIP1_ENST00000398016.3_Missense_Mutation_p.G477R			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	529	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTGGAATTCCATTGATGGCC	0.458000													20	34					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188956652	188956652	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:188956652C>T	ENST00000345063.3	+	4	600	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TPRG1_ENST00000433971.1_Missense_Mutation_p.R145C|TPRG1-AS2_ENST00000425454.1_RNA	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	145								p.R145C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CGCTGTCTATCGCATCTGCCT	0.498000													20	32					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103416169	103416169	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:103416169G>A	ENST00000361246.2	-	26	3670	c.3382C>T	c.(3382-3384)Ctg>Ttg	p.L1128L		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1128	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGATCATACAGGAAGAGCTTG	0.537000													31	60					0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27085398	27085398	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:27085398G>A	ENST00000341217.5	-	3	1794	c.1579C>T	c.(1579-1581)Cga>Tga	p.R527*	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Nonsense_Mutation_p.R527*|FAM222B_ENST00000452648.3_Nonsense_Mutation_p.R527*	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	527																	CTCTGTTCTCGGAAGCAGGCC	0.602000													16	28					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51204893	51204893	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:51204893G>A	ENST00000245441.5	-	27	5930	c.5740C>T	c.(5740-5742)Cag>Tag	p.Q1914*	NIN_ENST00000382041.3_Nonsense_Mutation_p.Q1914*|NIN_ENST00000324330.9_Nonsense_Mutation_p.Q1914*|NIN_ENST00000389868.3_Nonsense_Mutation_p.Q1201*|NIN_ENST00000382043.4_Nonsense_Mutation_p.Q1201*|NIN_ENST00000530997.2_Nonsense_Mutation_p.Q1914*|NIN_ENST00000453196.1_Nonsense_Mutation_p.Q1914*	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1914					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTGAAACTGATCACACTCT	0.393000			T	PDGFRB	MPD								33	45					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096588	107096588	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:107096588G>A	ENST00000261058.1	+	1	401	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	52										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACATCTGATGATTGTAATCA	0.373000													36	55					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396351	45396351	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:45396351C>T	ENST00000389039.6	-	19	2932	c.2547G>A	c.(2545-2547)gtG>gtA	p.V849V	DUOX2_ENST00000603300.1_Silent_p.V849V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	849	EF-hand 1.				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)		TCATGAAGACCACCAGGATGT	0.542000													7	28					0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92456771	92456771	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:92456771C>T	ENST00000370389.2	+	13	2738	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	BRDT_ENST00000399546.2_Missense_Mutation_p.P678L|BRDT_ENST00000394530.3_Missense_Mutation_p.P632L|BRDT_ENST00000362005.3_Missense_Mutation_p.P678L|BRDT_ENST00000402388.1_Missense_Mutation_p.P678L	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	678			R -> Q (in dbSNP:rs35327986).		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)		GAAGTAAAACCAAATGATTCT	0.249000													5	5					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64572586	64572586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:64572586C>A	ENST00000337652.1	-	9	1788	c.1285G>T	c.(1285-1287)Gag>Tag	p.E429*	MEN1_ENST00000377326.3_Nonsense_Mutation_p.E424*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.E424*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.E429*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.E389*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.E429*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.E424*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.E429*|MEN1_ENST00000377316.2_Intron|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000443283.1_Nonsense_Mutation_p.E429*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	429					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.L414_E425del(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTGCCCTCCTCCCATTTGCAG	0.632000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				16	10					9.16793e-09	9.28427e-09	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26165018	26165018	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr22:26165018C>T	ENST00000335473.7	+	4	1385	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	MYO18B_ENST00000407587.2_Missense_Mutation_p.R379W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R379W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	379			R -> Q (in a lung small cell carcinoma sample; somatic mutation).			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						AGGTGAGCTTCGGAGCACGAC	0.577000													7	13					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509332	105509332	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:105509332T>C	ENST00000276654.5	-	5	1556	c.1448A>G	c.(1447-1449)gAa>gGa	p.E483G	LRP12_ENST00000424843.2_Missense_Mutation_p.E464G	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	483	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGGCAATTTTCTTCATCGCT	0.448000													15	58					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78392163	78392163	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:78392163G>A	ENST00000397909.2	+	7	960	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	NAV3_ENST00000536525.2_Missense_Mutation_p.V263I|NAV3_ENST00000228327.6_Missense_Mutation_p.V263I|NAV3_ENST00000266692.7_Missense_Mutation_p.V263I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	263						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCAGCAAGGTCCAGGGAGC	0.403000										HNSCC(70;0.22)			13	27					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141059843	141059843	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:141059843G>A	ENST00000239440.4	-	2	276	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	ARAP3_ENST00000508305.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	71					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGGGATCCAGGGAGCCCTCT	0.642000													10	59					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525048	167525048	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr3:167525048G>A	ENST00000295777.5	+	6	1329	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	SERPINI1_ENST00000488374.1_3'UTR|SERPINI1_ENST00000446050.2_Missense_Mutation_p.E300K	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	300					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AGTGGAACAGGAAATTGATTT	0.338000													10	31					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145083	45145083	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:45145083A>G	ENST00000258770.3	-	3	813	c.692T>C	c.(691-693)gTg>gCg	p.V231A	TBRG4_ENST00000395655.4_Missense_Mutation_p.V231A|TBRG4_ENST00000361278.3_Missense_Mutation_p.V231A|TBRG4_ENST00000494076.1_Missense_Mutation_p.V231A	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	231					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						GAGGTGTCCCACCTTCATCAT	0.572000													27	60					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													5	46					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511522	24511522	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:24511522A>T	ENST00000264463.4	-	6	1423	c.916T>A	c.(916-918)Tac>Aac	p.Y306N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	306	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATAATTCGGTATTCTACTTCA	0.448000										HNSCC(23;0.051)			37	55					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041335	234041335	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:234041335C>T	ENST00000366618.3	+	2	259	c.114C>T	c.(112-114)ctC>ctT	p.L38L		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)			GCCCCCAGCTCCGGCAGCTCA	0.672000													15	58					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34276407	34276407	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:34276407G>A	ENST00000373381.4	-	10	1559	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	CSMD2_ENST00000338325.1_Silent_p.F18F	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	421	CUB 3.					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)				ACTGAATGGGGAAATTGGGGG	0.547000													31	47					0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082220	77082220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:77082220C>T	ENST00000579016.1	+	14	2021	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	674						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GATGACTCTCCGGGCAGGGAG	0.632000													20	37					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135390924	135390924	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:135390924C>T	ENST00000354042.4	-	4	1179	c.490G>A	c.(490-492)Gag>Aag	p.E164K		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	164						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGAGCTGCTCGTCCTCAGCA	0.607000													26	65					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98995080	98995080	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:98995080G>A	ENST00000558256.1	-	5	593	c.344C>T	c.(343-345)tCg>tTg	p.S115L	FAM169B_ENST00000332908.4_Missense_Mutation_p.S115L	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	115			S -> P (in dbSNP:rs12101356).							large_intestine(3)|lung(3)|urinary_tract(1)	7						AGGAGACATCGAGCAGCTAAC	0.552000													10	13					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100787170	100787170	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:100787170T>C	ENST00000323346.5	+	4	810	c.497T>C	c.(496-498)tTa>tCa	p.L166S	SLC17A8_ENST00000392989.3_Missense_Mutation_p.L166S	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	166					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GCCATCTTCTTAACATCGACT	0.478000													14	23					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134126191	134126191	+	Nonsense_Mutation	SNP	T	T	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:134126191T>G	ENST00000452510.2	+	13	1733	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	DDX46_ENST00000509178.1_3'UTR|DDX46_ENST00000354283.4_Nonsense_Mutation_p.Y525*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	525	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)			GAGTGACATATGTTGTTTTAG	0.308000													19	21					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100193315	100193315	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:100193315G>A	ENST00000241071.6	+	8	1514	c.1192G>A	c.(1192-1194)Ggg>Agg	p.G398R	FBXO24_ENST00000468962.1_Missense_Mutation_p.G386R|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.G436R|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_3'UTR	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	398						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AATGGACCGAGGGGAACCCAC	0.517000													11	23					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103339331	103339331	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr13:103339331C>T	ENST00000267273.6	-	3	364	c.359G>A	c.(358-360)gGt>gAt	p.G120D		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	120							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						TGGTCCGGCACCAATTTCAAG	0.368000													13	17					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102314969	102314969	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:102314969T>G	ENST00000413150.2	+	2	147	c.92T>G	c.(91-93)gTt>gGt	p.V31G	MAP4K4_ENST00000347699.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000324219.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000350198.4_Missense_Mutation_p.V31G|MAP4K4_ENST00000302217.5_Missense_Mutation_p.V31G|MAP4K4_ENST00000456652.1_Missense_Mutation_p.V31G|MAP4K4_ENST00000425019.1_Missense_Mutation_p.V31G	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	31	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTGGAAGTGGTTGGAAATGGC	0.478000													12	220					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23807135	23807135	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:23807135C>T	ENST00000269142.5	+	1	1236	c.238C>T	c.(238-240)Cct>Tct	p.P80S	TAF4B_ENST00000578121.1_Missense_Mutation_p.P80S|TAF4B_ENST00000400466.2_Missense_Mutation_p.P80S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	80					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CAGCGCCCCTCCTAAAGTCAG	0.637000													45	19					0	0	1	0	0
RINL	126432	broad.mit.edu	37	19	39361343	39361343	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:39361343G>A	ENST00000340740.3	-	8	936	c.549C>T	c.(547-549)gaC>gaT	p.D183D	RINL_ENST00000602238.1_Intron|CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000598904.1_Silent_p.D183D|RINL_ENST00000591812.1_Silent_p.D297D	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	183							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CCGTGGCCGGGTCCCCAGACC	0.637000													15	17					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599542	123599542	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:123599542C>A	ENST00000340011.5	+	5	1406	c.1049C>A	c.(1048-1050)tCt>tAt	p.S350Y	SPAM1_ENST00000460182.1_Missense_Mutation_p.S350Y|SPAM1_ENST00000402183.2_Missense_Mutation_p.S350Y|SPAM1_ENST00000223028.7_Missense_Mutation_p.S350Y|SPAM1_ENST00000439500.1_Missense_Mutation_p.S350Y	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	350					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTACAGAAATCTTGCTTGCTC	0.338000													5	22					0.014758	0.0148698	1	1	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:34102840G>A	ENST00000389232.4	+	71	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					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)		GCAAAATCGCGATACAGCCAT	0.547000													10	17					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121932414	121932414	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:121932414G>A	ENST00000377069.4	-	12	2015	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	KDM2B_ENST00000538046.2_Missense_Mutation_p.P478S|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.P451S|KDM2B_ENST00000377071.4_Missense_Mutation_p.P568S	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	568					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	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|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCACCACAGGGACCCCAGTG	0.592000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	7					0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38910609	38910609	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:38910609G>A	ENST00000454404.2	-	6	767	c.554C>T	c.(553-555)cCa>cTa	p.P185L	RASGRP4_ENST00000587753.1_Missense_Mutation_p.P185L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P185L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.P185L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P171L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P185L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.P185L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	185					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)			GCCCAGGCCTGGGCTGCTCAT	0.632000													8	20					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794908	55794908	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr12:55794908T>C	ENST00000379665.2	+	1	695	c.596T>C	c.(595-597)tTg>tCg	p.L199S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATGGCATTTTTGCTAGCAGTA	0.438000													59	86					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112318761	112318761	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:112318761G>T	ENST00000369697.1	-	6	1918	c.1849C>A	c.(1849-1851)Cca>Aca	p.P617T	KCND3_ENST00000315987.2_Missense_Mutation_p.P636T|KCND3_ENST00000302127.4_Missense_Mutation_p.P617T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	636						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGGGGCCTGGGCTGGCAGGG	0.577000													24	50					6.32553e-13	6.50486e-13	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					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)		AATTCACGACGAAAATGGAAA	0.438000													32	53					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29142232	29142232	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:29142232T>C	ENST00000377167.2	+	1	922	c.820T>C	c.(820-822)Ttc>Ctc	p.F274L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCAGGGCAAGTTCATTGCCCT	0.438000													38	119					0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41301012	41301012	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr21:41301012G>A	ENST00000328619.5	+	3	350	c.165G>A	c.(163-165)aaG>aaA	p.K55K	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	55	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AATTCCAGAAGAAGAAGGCTG	0.448000													14	21					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141843	133141843	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:133141843G>A	ENST00000388996.4	-	15	2705	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	KCNQ3_ENST00000519445.1_Missense_Mutation_p.S750F|KCNQ3_ENST00000521134.1_Missense_Mutation_p.S642F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	762					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)			GTCAGCCTGGGAGTGGCAGCT	0.602000													23	23					0	0	1	0	0
HILPDA	29923	broad.mit.edu	37	7	128097400	128097400	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:128097400C>T	ENST00000257696.4	+	2	279	c.78C>T	c.(76-78)tcC>tcT	p.S26S	HILPDA_ENST00000481454.1_Intron|RP11-155G14.5_ENST00000493710.1_RNA|HILPDA_ENST00000435296.2_Silent_p.S26S	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HIG2_HUMAN	hypoxia inducible lipid droplet-associated	26					autocrine signaling|positive regulation of cell proliferation|response to stress	cell surface|extracellular space|integral to membrane|stored secretory granule	receptor binding										TGATGGAGTCCCTAGAGGGCT	0.542000													19	58					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:36039616C>T	ENST00000282507.3	-	5	1139	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_ENST00000545528.1_Silent_p.V44V|UGT3A2_ENST00000513300.1_Silent_p.V312V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	346						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)			CCACAATTTTCACATTTGCAG	0.532000													17	47					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414565	17414565	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:17414565G>A	ENST00000302539.4	-	39	4847	c.4722C>T	c.(4720-4722)ttC>ttT	p.F1574F	ABCC8_ENST00000389817.3_Silent_p.F1573F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1573	ABC transporter 2.				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)	CGAAGGAGGCGAAGACGCTGT	0.572000													19	38					0	0	1	0	0
LINC00957	255031	broad.mit.edu	37	7	44080541	44080541	+	RNA	SNP	G	G	A	rs3099751		TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:44080541G>A	ENST00000441052.1	+	0	1226																											CTGCCGCTGCGCCCCGCACCC	0.617000													4	34					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739007	119739007	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:119739007G>A	ENST00000541757.1	+	10	935	c.555G>A	c.(553-555)atG>atA	p.M185I	MARCO_ENST00000327097.4_Missense_Mutation_p.M263I			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	263	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						ACAGGGGCATGAAAGGAGATG	0.567000													9	11					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	107013044	107013044	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:107013044C>T	ENST00000393603.2	-	8	1195	c.924G>A	c.(922-924)gtG>gtA	p.V308V	COG5_ENST00000347053.3_Silent_p.V308V|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.V308V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	308					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						CCATACCTCTCACAGCTGACT	0.333000													12	29					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756137	71756137	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:71756137G>A	ENST00000318442.5	-	2	1677	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	396					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)		GTCGCACTCGGAGCAGTTGTA	0.602000													10	12					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98208136	98208136	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr5:98208136G>A	ENST00000284049.3	-	26	3844	c.3695C>T	c.(3694-3696)cCa>cTa	p.P1232L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1232					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTTCTTCTGGATCAGAAGG	0.348000													14	23					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76823355	76823355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:76823355G>A	ENST00000312010.6	-	6	985	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	USP36_ENST00000589424.1_Nonsense_Mutation_p.Q221*|USP36_ENST00000590546.2_Nonsense_Mutation_p.Q221*|USP36_ENST00000542802.2_Nonsense_Mutation_p.Q221*	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	221					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGGCTTTCTGCATGGCGTCG	0.567000													7	14					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496064	6496064	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:6496064G>A	ENST00000264071.2	-	4	817	c.446C>T	c.(445-447)aCg>aTg	p.T149M	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000598006.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.T149M			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	149					'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	p.T149M(1)									GATGAGCAGCGTGCCCATTCC	0.642000													28	47					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058821	1058821	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:1058821C>A	ENST00000263094.6	+	39	5513	c.5282C>A	c.(5281-5283)cCc>cAc	p.P1761H	ABCA7_ENST00000433129.1_Missense_Mutation_p.P1761H|ABCA7_ENST00000435683.2_Missense_Mutation_p.P1623H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1761					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)		GTCCCCAGGCCCAGGGTGAGG	0.612000													16	32					6.72482e-11	6.88001e-11	1	1	0
LRRC42	115353	broad.mit.edu	37	1	54417912	54417912	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr1:54417912G>A	ENST00000371370.3	+	3	761	c.240G>A	c.(238-240)ggG>ggA	p.G80G	LRRC42_ENST00000319223.4_Silent_p.G80G	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	80										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CCCGAGAGGGGAATCTTCGGT	0.488000													27	48					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672213	28672213	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr18:28672213G>A	ENST00000280904.6	-	3	648	c.205C>T	c.(205-207)Cct>Tct	p.P69S	DSC2_ENST00000251081.6_Missense_Mutation_p.P69S	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	69					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGAAGTCAGGATCACTTGAA	0.333000													20	13					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650488	90650488	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:90650488G>A	ENST00000282146.4	+	2	809	c.368G>A	c.(367-369)gGa>gAa	p.G123E		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAGTAGGAGGAAAAATCTTT	0.483000													16	42					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43495939	43495939	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:43495939G>A	ENST00000395891.1	+	13	3149	c.2544G>A	c.(2542-2544)gtG>gtA	p.V848V	HECW1_ENST00000453890.1_Silent_p.V814V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	848	WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						TCTTTTATGTGGACCACGTGA	0.542000													21	26					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8726743	8726743	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:8726743C>T	ENST00000311434.9	-	14	1826	c.1587G>A	c.(1585-1587)atG>atA	p.M529I	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	529					platelet activation	cytosol											GTTGGGTGCCCATGCGGATGT	0.552000													9	15					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944192	55944192	+	Silent	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:55944192G>A	ENST00000312298.1	+	1	99	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGTTCCTGGTGATTTACGCCA	0.398000													45	87					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290772	58290772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr19:58290772C>T	ENST00000391702.3	+	4	1055	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Nonsense_Mutation_p.R273*|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCATTTCGCCGAAGCTCTTC	0.428000													14	22					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152534436	152534436	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr2:152534436G>A	ENST00000427231.2	-	33	3723	c.3521C>T	c.(3520-3522)gCc>gTc	p.A1174V	NEB_ENST00000397345.3_Missense_Mutation_p.A1174V|NEB_ENST00000603639.1_Missense_Mutation_p.A1174V|NEB_ENST00000172853.10_Missense_Mutation_p.A1174V|NEB_ENST00000604864.1_Missense_Mutation_p.A1174V|NEB_ENST00000409198.1_Missense_Mutation_p.A1174V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1174					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)		CAGGTCCATGGCGTCAGGCAA	0.453000													11	20					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651304	1651304	+	Silent	SNP	T	T	C			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:1651304T>C	ENST00000399676.2	+	1	272	c.234T>C	c.(232-234)gcT>gcC	p.A78A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	78	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		GTGTGCCAGCTTGTTCCTGCT	0.667000													5	213					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10624442	10624442	+	Silent	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr20:10624442C>T	ENST00000254958.5	-	20	2957	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G	JAG1_ENST00000423891.2_Silent_p.G655G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	814	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAGTCGGGCCCAGCAAAAC	0.498000									Alagille Syndrome				4	21					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85448270	85448270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr6:85448270C>T	ENST00000369663.5	-	7	1381	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*	TBX18_ENST00000606784.1_Nonsense_Mutation_p.W190*	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	348					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTGATGGTCGCCAGAATGCAT	0.468000													41	29					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45880325	45880325	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:45880325C>T	ENST00000443527.2	+	3	453	c.431C>T	c.(430-432)cCc>cTc	p.P144L	CRY2_ENST00000417225.2_Missense_Mutation_p.P62L|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	123	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GACTCTGAACCCTTTGGGAAA	0.527000													11	15					0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	975067	975067	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr7:975067delG	ENST00000265846.5	-	2	376	c.157delC	c.(157-159)agfs	p.Q53fs	ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Frame_Shift_Del_p.Q64fs	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	53	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTGCTGACCTGGGGGATATTC	0.672													2	4	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125058038	125058044	+	Frame_Shift_Del	DEL	AACCAGA	AACCAGA	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr8:125058038_125058044delAACCAGA	ENST00000522917.1	+	21	2826_2832	c.2620_2626delAACCAGA	c.(2620-2628)tgfs	p.NQM874fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.NQM874fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	874	C2 3.					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)			TCCGACCTGGAACCAGATGCTGCTGTT	0.502													46	173	---	---	---	---					
CTD-2313N18.8	0	broad.mit.edu	37	11	71574635	71574635	+	RNA	DEL	A	A	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr11:71574635delA	ENST00000528518.1	+	0	168																											GTAATGAAGGAAAAAAATGTA	0.428													8	2632	---	---	---	---					
SOS2	6655	broad.mit.edu	37	14	50616844	50616850	+	Frame_Shift_Del	DEL	GTGGACT	GTGGACT	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr14:50616844_50616850delGTGGACT	ENST00000216373.5	-	14	2534_2540	c.2260_2266delAGTCCAC	c.(2260-2268)ctfs	p.SPP754fs	SOS2_ENST00000543680.1_Frame_Shift_Del_p.SPP721fs	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	754					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ATTGGTGGAGGTGGACTTTCAAAGGTA	0.406													28	83	---	---	---	---					
SV2B	9899	broad.mit.edu	37	15	91811796	91811796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr15:91811796delA	ENST00000394232.1	+	9	1804	c.1334delA	c.(1333-1335)gafs	p.E445fs	SV2B_ENST00000330276.4_Frame_Shift_Del_p.E445fs|SV2B_ENST00000545111.2_Frame_Shift_Del_p.E294fs	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	445					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)			TTCACGATGGAAAATCAGATC	0.438													34	50	---	---	---	---					
AMZ2	51321	broad.mit.edu	37	17	66247278	66247290	+	Frame_Shift_Del	DEL	ACTCGTGGAATTT	ACTCGTGGAATTT	-			TCGA-D3-A51E-06A-11D-A25O-08	TCGA-D3-A51E-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	B895DB4B-04BD-45CF-9EA9-7800AC4EE769	5B08C1B2-9D52-4720-933A-FE3C924AB781	g.chr17:66247278_66247290delACTCGTGGAATTT	ENST00000359904.3	+	4	1677_1689	c.545_557delACTCGTGGAATTT	c.(544-558)gtfs	p.DSWNF182fs	AMZ2_ENST00000577866.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000359783.4_Frame_Shift_Del_p.DSWNF124fs|AMZ2_ENST00000577985.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577273.1_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000392720.2_Frame_Shift_Del_p.DSWNF182fs|AMZ2_ENST00000580753.1_Frame_Shift_Del_p.DSWNF182fs	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	182							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TACCCAAGAGACTCGTGGAATTTTGTCTTTGGA	0.385													13	69	---	---	---	---					
