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
SPEN	23013	broad.mit.edu	37	1	16258240	16258240	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:16258240C>T	ENST00000375759.3	+	11	5709	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1835					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGTGAGTATCGTGGAGAAGC	0.483000													21	39					0	0	0.000375601	0	0
IRF2	3660	broad.mit.edu	37	4	185320087	185320087	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:185320087G>C	ENST00000393593.3	-	7	883	c.676C>G	c.(676-678)Ccc>Gcc	p.P226A		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	226					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAAGACACGGGGGAGATCTGC	0.617000													4	46					0	0	0.000602214	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991393	52991393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:52991393G>A	ENST00000371544.3	-	2	822	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S187F|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S187F|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	187					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGAAGTAAAGGAGCTTGGAAT	0.413000													27	141					0	0	0.000586117	0	0
FCN2	2220	broad.mit.edu	37	9	137779172	137779172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:137779172G>A	ENST00000350339.2	+	7	753	c.739G>A	c.(739-741)Ggc>Agc	p.G247S	FCN2_ENST00000291744.6_Missense_Mutation_p.G285S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	285	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGGGACTCATGGCAGCTTTGC	0.507000													10	31					0	0	0.000442599	0	0
PAPPA	5069	broad.mit.edu	37	9	118949587	118949587	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:118949587C>T	ENST00000328252.3	+	2	939	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	190					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCACCGCAGCTACCTCCCAG	0.547000													7	51					0	0	8.12818e-05	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89987050	89987050	+	RNA	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:89987050T>G	ENST00000491977.1	+	0	361																											TGTTGGGGTTTATTACTGCAT	0.532000													19	69					0	0	0.000175454	0	0
NLRP11	204801	broad.mit.edu	37	19	56320375	56320375	+	Missense_Mutation	SNP	C	C	T	rs141337326		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56320375C>T	ENST00000443188.1	-	5	2311	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	NLRP11_ENST00000592953.1_Missense_Mutation_p.R435H|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534H|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R534H	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	534							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)		TTCCGGGTCACGGTCCAAATG	0.453000													24	131					0	0	0.000586117	0	0
OR51L1	119682	broad.mit.edu	37	11	5020224	5020224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5020224G>A	ENST00000321543.1	+	1	12	c.12G>A	c.(10-12)tgG>tgA	p.W4*		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGAGACTGGAATAACAGTG	0.418000													22	78					0	0	0.000586117	0	0
SLX4IP	128710	broad.mit.edu	37	20	10541455	10541455	+	Silent	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:10541455C>G	ENST00000334534.5	+	4	405	c.225C>G	c.(223-225)ccC>ccG	p.P75P		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		GATCCAATCCCTTGTCCTTAA	0.388000													12	34					0	0	0.000219431	0	0
DSG4	147409	broad.mit.edu	37	18	28993439	28993439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:28993439C>T	ENST00000359747.4	+	15	3090	c.3061C>T	c.(3061-3063)Caa>Taa	p.Q1021*	DSG4_ENST00000308128.4_Nonsense_Mutation_p.Q1002*|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	1002					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCAGAAATTCAAGTGATGCA	0.488000													25	81					0	0	0.000586117	0	0
METTL18	92342	broad.mit.edu	37	1	169762604	169762604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:169762604G>A	ENST00000310392.4	-	2	586	c.233C>T	c.(232-234)cCa>cTa	p.P78L	METTL18_ENST00000303469.2_Missense_Mutation_p.P78L|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	78						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TGCACTGAGTGGACTGTCTGT	0.463000													12	34					0	0	0.000151284	0	0
KCNH4	23415	broad.mit.edu	37	17	40321597	40321597	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:40321597C>G	ENST00000264661.3	-	9	1820	c.1488G>C	c.(1486-1488)aaG>aaC	p.K496N	KCNH4_ENST00000607371.1_Missense_Mutation_p.K496N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	496					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGATGAAGTCCTTGAGGTCCT	0.632000													18	29					0	0	0.000566183	0	0
MYH1	4619	broad.mit.edu	37	17	10402091	10402091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:10402091C>T	ENST00000226207.5	-	30	4127	c.4033G>A	c.(4033-4035)Gac>Aac	p.D1345N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1345						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CGCAGCAGGTCACAGTCATGG	0.512000													13	46					0	0	0.000229342	0	0
NCAN	1463	broad.mit.edu	37	19	19339385	19339385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:19339385G>A	ENST00000252575.5	+	8	2999	c.2956G>A	c.(2956-2958)Gag>Aag	p.E986K	NCAN_ENST00000538881.1_Missense_Mutation_p.E437K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	986					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTCTGGGAGGAGGTGGCAAG	0.642000													9	29					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179582406	179582406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179582406G>A	ENST00000589042.1	-	87	25419	c.25195C>T	c.(25195-25197)Ctt>Ttt	p.L8399F	TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L8082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L7155F|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8082	Ig-like 66.						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)			TCTTTCAAAAGAACCCCATCC	0.413000													5	25					0	0	8.12818e-05	0	0
LPA	4018	broad.mit.edu	37	6	161020663	161020663	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:161020663C>T	ENST00000447678.1	-	21	3276	c.3156G>A	c.(3154-3156)caG>caA	p.Q1052Q	LPA_ENST00000316300.5_Silent_p.Q1052Q	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3560	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTAGCAGTCCTGTACCCCGG	0.448000													26	104					0	0	0.000586117	0	0
CDCA5	113130	broad.mit.edu	37	11	64850834	64850834	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:64850834A>C	ENST00000275517.3	-	4	416		c.e4+1		CDCA5_ENST00000404147.3_Splice_Site	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5						cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AAGTGAACTCACCCTAGGGCT	0.527000													13	33					0	0	0.000422831	0	0
RIF1	55183	broad.mit.edu	37	2	152314361	152314361	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:152314361C>T	ENST00000243326.4	+	23	3222	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	RIF1_ENST00000444746.2_Silent_p.S913S|RIF1_ENST00000428287.2_Silent_p.S913S|RIF1_ENST00000430328.2_Silent_p.S913S|RIF1_ENST00000453091.2_Silent_p.S913S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	913					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AACAACTCTCCCCACTATTAT	0.378000													12	64					0	0	6.40141e-05	0	0
ZNF652	22834	broad.mit.edu	37	17	47376020	47376020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:47376020G>A	ENST00000362063.2	-	6	1894	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	ZNF652_ENST00000430262.2_Missense_Mutation_p.P526S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	526	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GGAGGGGTTGGGGTTGTGGCT	0.592000													6	9					0	0	8.12818e-05	0	0
POLD1	5424	broad.mit.edu	37	19	50905595	50905595	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50905595C>T	ENST00000440232.2	+	6	776	c.723C>T	c.(721-723)ttC>ttT	p.F241F	POLD1_ENST00000599857.1_Silent_p.F241F|POLD1_ENST00000595904.1_Silent_p.F241F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	241					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	p.F241F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGCCCAGCTTCGCGCCCTACG	0.701000								DNA polymerases (catalytic subunits)					9	33					0	0	6.40141e-05	0	0
KCNA10	3744	broad.mit.edu	37	1	111060615	111060615	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:111060615G>A	ENST00000369771.2	-	1	1182	c.795C>T	c.(793-795)acC>acT	p.T265T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	265						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGTGAACATGGTCTGGGAGA	0.557000													13	54					0	0	0.000422831	0	0
AHCY	191	broad.mit.edu	37	20	32883331	32883331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:32883331G>A	ENST00000538132.1	-	2	391	c.5C>T	c.(4-6)cCg>cTg	p.P2L	AHCY_ENST00000217426.2_Missense_Mutation_p.P30L|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	30					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CATCAGGCCCGGCATCTCGTT	0.662000													5	10					0	0	8.12818e-05	0	0
RABL3	285282	broad.mit.edu	37	3	120449611	120449611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:120449611G>A	ENST00000273375.3	-	2	99	c.70C>T	c.(70-72)Cat>Tat	p.H24Y	RABL3_ENST00000483733.1_Missense_Mutation_p.H24Y|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	24	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CATAGGAGATGGACTAACGAA	0.383000													21	71					0	0	0.000720815	0	0
CD86	942	broad.mit.edu	37	3	121822654	121822654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:121822654G>A	ENST00000330540.2	+	3	476	c.360G>A	c.(358-360)atG>atA	p.M120I	CD86_ENST00000469710.1_Missense_Mutation_p.M38I|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.M114I|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	120	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CCACAGGAATGATTCGCATCC	0.438000													14	41					0	0	0.000308642	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812255	12812255	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:12812255G>A	ENST00000379672.5	+	4	540	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ARHGAP44_ENST00000262444.9_Silent_p.E80E|ARHGAP44_ENST00000340825.3_Silent_p.E80E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	80	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GTCTGATGGAGGGGTCAGCTA	0.443000													30	111					0	0	0.000191422	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829239	31829239	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:31829239C>T	ENST00000354297.4	+	6	701	c.630C>T	c.(628-630)atC>atT	p.I210I	BPIFA1_ENST00000375413.4_Silent_p.I210I|BPIFA1_ENST00000375422.2_Silent_p.I210I	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	210					innate immune response	extracellular region	lipid binding	p.I210I(1)									TCACAGGGATCTTGAATAAAG	0.507000													38	128					0	0	0.000781405	0	0
EXPH5	23086	broad.mit.edu	37	11	108381986	108381986	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:108381986G>A	ENST00000265843.4	-	6	4358	c.4248C>T	c.(4246-4248)tcC>tcT	p.S1416S	EXPH5_ENST00000443411.1_Silent_p.S1228S|EXPH5_ENST00000525344.1_Silent_p.S1409S|EXPH5_ENST00000428840.1_Silent_p.S1340S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1416					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAATTAATGGATTGTTGAC	0.373000													25	84					0	0	0.000878237	0	0
COL4A4	1286	broad.mit.edu	37	2	227906900	227906900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:227906900C>T	ENST00000396625.3	-	37	3676	c.3469G>A	c.(3469-3471)Ggg>Agg	p.G1157R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1157R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1157	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGATCCCCCTGGAGGCCT	0.547000													16	45					0	0	0.000958276	0	0
FLG	2312	broad.mit.edu	37	1	152284699	152284699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152284699C>T	ENST00000368799.1	-	3	2698	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	888	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G888E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTCTGGATCCTGACTGCCC	0.562000									Ichthyosis				53	178					0	0	0.000781405	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348010	38348010	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:38348010A>T	ENST00000273173.4	+	1	584	c.493A>T	c.(493-495)Aag>Tag	p.K165*	SLC22A14_ENST00000448498.1_Nonsense_Mutation_p.K165*	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	165						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCTGACGCTAAGAAGCGATC	0.498000													18	72					0	0	0.000132079	0	0
KIF15	56992	broad.mit.edu	37	3	44893366	44893366	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:44893366G>A	ENST00000326047.4	+	33	4043	c.3894G>A	c.(3892-3894)gaG>gaA	p.E1298E	KIF15_ENST00000425755.1_Silent_p.E933E	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1298					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAACTTTGGAGTCTAAAGCAT	0.418000													22	73					0	0	0.000175454	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977993	53977993	+	Silent	SNP	G	G	A	rs141354765	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:53977993G>A	ENST00000263634.3	-	3	416	c.282C>T	c.(280-282)atC>atT	p.I94I	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000406687.1_Silent_p.I21I|GPR75-ASB3_ENST00000394717.2_Silent_p.I21I|GPR75-ASB3_ENST00000352846.3_Silent_p.I132I|ASB3_ENST00000406625.2_Silent_p.I129I|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		129					intracellular signal transduction												GAATCTGTACGATTTTCCAAT	0.388000													10	49					0	0	0.000673444	0	0
UBXN10	127733	broad.mit.edu	37	1	20517071	20517071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:20517071C>T	ENST00000375099.3	+	2	101	c.17C>T	c.(16-18)cCt>cTt	p.P6L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	6										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						ACAGAAGCCCCTGTGAATATA	0.493000													16	76					0	0	0.000175454	0	0
OR52N4	390072	broad.mit.edu	37	11	5776059	5776059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5776059C>T	ENST00000317254.3	+	1	137	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCTGGATTTCCTTCCCATTC	0.438000													10	56					0	0	0.000673444	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:73962509C>T	ENST00000373468.1	-	3	2534	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R628Q			Q5QGS0	K2022_HUMAN	KIAA2022	628					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000													6	8					0	0	0.000157383	0	0
SLC6A17	388662	broad.mit.edu	37	1	110735144	110735144	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:110735144C>T	ENST00000331565.4	+	8	1608	c.1123C>T	c.(1123-1125)Cta>Tta	p.L375L		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	375					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGAGAAAATCCTAGGGTACCT	0.552000													10	33					0	0	0.000673444	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912689	94912689	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:94912689C>A	ENST00000334708.3	-	3	960	c.896G>T	c.(895-897)tGg>tTg	p.W299L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	299					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAATTGGCCCCATTTTCTCAG	0.552000													16	51					3.52763e-06	4.74523e-05	0.000566183	1	0
EBF2	64641	broad.mit.edu	37	8	25766038	25766038	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:25766038C>T	ENST00000520164.1	-	7	1122	c.585G>A	c.(583-585)caG>caA	p.Q195Q	EBF2_ENST00000408929.3_Silent_p.Q47Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	195					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCAAACAATTCTGATTGCACT	0.373000													8	31					0	0	0.000673444	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224889	26224889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:26224889G>A	ENST00000056233.3	+	4	1830	c.1571G>A	c.(1570-1572)aGg>aAg	p.R524K		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	524					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGAAGATAAGGAGTAGATAC	0.428000													11	62					0	0	6.40141e-05	0	0
AMY2B	280	broad.mit.edu	37	1	104116981	104116981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:104116981C>T	ENST00000361355.4	+	7	1460	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	282					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R282S(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CACAGTTATTCGCAAGTGGAA	0.398000													39	271					0	0	0.000680045	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406203	148406203	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:148406203C>T	ENST00000394358.2	-	12	3199	c.2747G>A	c.(2746-2748)gGg>gAg	p.G916E	SH3TC2_ENST00000515425.1_Silent_p.R995R|SH3TC2_ENST00000538184.1_Silent_p.R542R|SH3TC2_ENST00000512049.1_Silent_p.R988R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	0							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCGGTCCCTGAGTTGCT	0.577000													16	44					0	0	0.00074312	0	0
LEKR1	389170	broad.mit.edu	37	3	156763400	156763400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:156763400C>T	ENST00000470811.1	+	14	2363	c.1028C>T	c.(1027-1029)aCc>aTc	p.T343I	LEKR1_ENST00000356539.4_Missense_Mutation_p.T647I			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTTCCCAACCTCAGATAAG	0.517000													12	42					0	0	6.40141e-05	0	0
HSF1	3297	broad.mit.edu	37	8	145537654	145537654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:145537654G>A	ENST00000528838.1	+	12	1481	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	HSF1_ENST00000528842.1_3'UTR|HSF1_ENST00000400780.4_Missense_Mutation_p.E382K	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	441	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			ACAGATCCAAGAGCTCCTGTC	0.672000													13	17					0	0	0.000132079	0	0
C9orf171	389799	broad.mit.edu	37	9	135374979	135374979	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:135374979C>T	ENST00000343036.2	+	4	672	c.624C>T	c.(622-624)atC>atT	p.I208I	C9orf171_ENST00000393215.3_Silent_p.I172I|C9orf171_ENST00000393216.2_Silent_p.I172I	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	208										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CATTTGGGATCCGGGCACGGT	0.592000													8	21					0	0	0.000157383	0	0
IGKV2-24	28923	broad.mit.edu	37	2	89476122	89476122	+	RNA	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:89476122C>T	ENST00000484817.1	-	0	79																											CCCACTGGATCCTGAAATAAT	0.408000													13	68					0	0	0.000422831	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604171	124604171	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:124604171A>C	ENST00000368417.1	+	2	135	c.75A>C	c.(73-75)caA>caC	p.Q25H	NKAIN2_ENST00000546092.1_Missense_Mutation_p.Q25H|NKAIN2_ENST00000545433.1_Missense_Mutation_p.Q10H|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000368416.1_Missense_Mutation_p.Q25H	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	25						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGAGAGGCAAATATTTGACT	0.373000													19	132					0	0	0.000175454	0	0
CPT1C	126129	broad.mit.edu	37	19	50212081	50212081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50212081G>A	ENST00000392518.4	+	14	1923	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	CPT1C_ENST00000598293.1_Nonsense_Mutation_p.W517*|CPT1C_ENST00000323446.5_Nonsense_Mutation_p.W517*|CPT1C_ENST00000405931.2_Nonsense_Mutation_p.W506*|CPT1C_ENST00000354199.5_Nonsense_Mutation_p.W517*	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	517					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTGCAATGGGACCTTCCAG	0.587000													8	24					0	0	0.000274275	0	0
WDR52	55779	broad.mit.edu	37	3	113138963	113138963	+	Silent	SNP	G	G	A	rs138006295	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:113138963G>A	ENST00000393845.2	-	5	537	c.471C>T	c.(469-471)gcC>gcT	p.A157A	WDR52_ENST00000295868.2_Silent_p.A157A|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	157										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTATGTATATGGCGATACTGT	0.433000													5	28					0	0	0.000602214	0	0
POMGNT1	55624	broad.mit.edu	37	1	46659580	46659580	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:46659580G>A	ENST00000371992.1	-	10	1547	c.897C>T	c.(895-897)gtC>gtT	p.V299V	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.V299V|POMGNT1_ENST00000371986.3_Silent_p.V299V|POMGNT1_ENST00000535522.1_Silent_p.V277V	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	299					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GCACATTGAGGACCTTGTTGT	0.532000													5	24					0	0	0.000157383	0	0
GLI2	2736	broad.mit.edu	37	2	121746665	121746665	+	Missense_Mutation	SNP	G	G	A	rs150597008		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121746665G>A	ENST00000452319.1	+	14	3235	c.3175G>A	c.(3175-3177)Gac>Aac	p.D1059N	GLI2_ENST00000314490.11_Missense_Mutation_p.D731N|GLI2_ENST00000361492.4_Missense_Mutation_p.D1059N			P10070	GLI2_HUMAN	GLI family zinc finger 2	1059					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCGGAGGACGACCTGGTGCT	0.706000													7	24					0	0	0.000157383	0	0
USP53	54532	broad.mit.edu	37	4	120190984	120190984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:120190984G>A	ENST00000450251.1	+	11	1971	c.1427G>A	c.(1426-1428)cGa>cAa	p.R476Q	USP53_ENST00000274030.6_Missense_Mutation_p.R476Q			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	476					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GATTTAGGACGACATAGAGGT	0.284000													40	154					0	0	0.000781405	0	0
AMPD3	272	broad.mit.edu	37	11	10524389	10524389	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:10524389G>T	ENST00000444303.2	+	12	1959	c.1487G>T	c.(1486-1488)gGa>gTa	p.G496V	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Missense_Mutation_p.G664V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	655					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)		CTACACAAGGGACTGCATGTT	0.493000													7	42					2.17888e-05	0.000291215	0.000442599	1	0
RGPD3	653489	broad.mit.edu	37	2	107040666	107040666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:107040666C>T	ENST00000409886.3	-	20	3844	c.3757G>A	c.(3757-3759)Gat>Aat	p.D1253N	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1253N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1253					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCTTAAATCATAGTTATCC	0.433000													55	156					0	0	0.000781405	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801225	185801225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:185801225G>A	ENST00000302277.6	+	4	1696	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	368						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CATGTCTAATGATTGCATATC	0.388000													17	27					0	0	0.000958276	0	0
PZP	5858	broad.mit.edu	37	12	9307347	9307347	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:9307347C>T	ENST00000261336.2	-	29	3667	c.3639G>A	c.(3637-3639)gaG>gaA	p.E1213E	PZP_ENST00000381997.2_Silent_p.E999E	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGGATGTCATCTCCACCTCAG	0.572000													8	29					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179457984	179457984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179457984C>T	ENST00000589042.1	-	299	59175	c.58951G>A	c.(58951-58953)Gaa>Aaa	p.E19651K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10711K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18010K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10586K|TTN_ENST00000342992.6_Missense_Mutation_p.E17083K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10778K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18010	Fibronectin type-III 42.						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)			ACCCGGAATTCATACTGACAT	0.388000													36	97					0	0	0.000814825	0	0
OR56A3	390083	broad.mit.edu	37	11	5969351	5969351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5969351C>T	ENST00000329564.6	+	1	782	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCACCATCCTTCTGGTTTT	0.522000													46	135					0	0	0.000781405	0	0
TPO	7173	broad.mit.edu	37	2	1459875	1459875	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:1459875C>G	ENST00000345913.4	+	7	731	c.640C>G	c.(640-642)Caa>Gaa	p.Q214E	TPO_ENST00000337415.3_Missense_Mutation_p.Q214E|TPO_ENST00000329066.4_Missense_Mutation_p.Q214E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.Q214E|TPO_ENST00000349624.3_Missense_Mutation_p.Q214E|TPO_ENST00000346956.3_Missense_Mutation_p.Q214E|TPO_ENST00000382201.3_Missense_Mutation_p.Q214E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	214					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACATGTCATTCAAGTTTCAAA	0.507000													7	17					0	0	0.000673444	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808384	18808384	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:18808384G>A	ENST00000400664.1	+	1	961	c.909G>A	c.(907-909)caG>caA	p.Q303Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	303						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCTTCCAGGGCAGGCTGG	0.632000													13	26					0	0	0.000151284	0	0
PDZD7	79955	broad.mit.edu	37	10	102789755	102789755	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:102789755G>C	ENST00000370215.3	-	2	447	c.222C>G	c.(220-222)atC>atG	p.I74M	PDZD7_ENST00000470414.1_Missense_Mutation_p.I74M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	74						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCTACCTTCGATGGGGGAGT	0.637000													5	38					0	0	8.12818e-05	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602891	138602891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:138602891G>A	ENST00000440172.1	-	2	1529	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S494F|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S444F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	494	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATCTAGAAGAAAGTGGGAC	0.483000			O	BRAF	pilocytic astrocytoma								9	15					0	0	0.000274275	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42797269	42797269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:42797269C>T	ENST00000314073.5	+	6	1374	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q400*					GLTSCR1-like																		ACCCCAAAGTCAGTTCCTTAT	0.498000													76	187					0	0	0.000781405	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540369	96540369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:96540369G>A	ENST00000371321.3	+	4	677	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	199					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TAACTTGATGGAAAAATTGAA	0.408000													27	73					0	0	0.000184323	0	0
OR5K4	403278	broad.mit.edu	37	3	98072934	98072934	+	Silent	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:98072934C>A	ENST00000354924.2	+	1	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTGTTACCCCCAAGATGTTAG	0.413000													10	221					0.000673444	0.00875757	0.000673444	1	0
LTBP2	4053	broad.mit.edu	37	14	74969553	74969553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:74969553C>T	ENST00000261978.4	-	34	5359	c.4973G>A	c.(4972-4974)gGc>gAc	p.G1658D	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1614D	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1658					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGCCCGGGGCCATACTCATA	0.647000													5	26					0	0	8.12818e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62295853	62295853	+	Silent	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:62295853G>T	ENST00000378024.4	-	5	6310	c.6036C>A	c.(6034-6036)ccC>ccA	p.P2012P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2012					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTACCTTGGGCACAGACA	0.502000													9	411					1.49906e-05	0.000200784	0.000219431	1	0
ATR	545	broad.mit.edu	37	3	142268424	142268424	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:142268424A>G	ENST00000350721.4	-	15	3189	c.3068T>C	c.(3067-3069)gTc>gCc	p.V1023A	ATR_ENST00000383101.3_Missense_Mutation_p.V959A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1023					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACGATTGACATTTAATTG	0.358000								Other conserved DNA damage response genes					7	31					0	0	8.12818e-05	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188125	140188125	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:140188125C>T	ENST00000530339.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.N451N|PCDHA4_ENST00000512229.2_Silent_p.N451N|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCTCCGGCGT	0.647000													12	34					0	0	6.40141e-05	0	0
SEC23IP	11196	broad.mit.edu	37	10	121663757	121663757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:121663757C>T	ENST00000369075.3	+	4	1141	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SEC23IP_ENST00000543134.1_Missense_Mutation_p.P146S	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	357	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TCGATTTATTCCCTATACTGA	0.423000													11	40					0	0	6.40141e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				15	44					0	0	0.00074312	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:215279114G>A	ENST00000312504.5	+	2	999	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_Missense_Mutation_p.R66Q	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000													5	15					0	0	3.59834e-05	0	0
SLX4IP	128710	broad.mit.edu	37	20	10541454	10541454	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:10541454C>G	ENST00000334534.5	+	4	404	c.224C>G	c.(223-225)cCc>cGc	p.P75R		NM_001009608.1	NP_001009608.1			SLX4 interacting protein																		AGATCCAATCCCTTGTCCTTA	0.383000													11	33					0	0	0.000151284	0	0
C12orf50	160419	broad.mit.edu	37	12	88379685	88379685	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:88379685C>T	ENST00000298699.2	-	11	1248	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	C12orf50_ENST00000550553.1_Silent_p.T317T	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	356										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGGACCCATGCGTGGGCCTGC	0.478000													17	75					0	0	0.00074312	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643288	37643288	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:37643288G>A	ENST00000356958.4	-	5	1771	c.1513C>T	c.(1513-1515)Cag>Tag	p.Q505*	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.Q450*|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.Q450*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGACCTCTGGGTGAAGGCC	0.423000													11	38					0	0	0.00010058	0	0
MROH7	374977	broad.mit.edu	37	1	55167824	55167824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:55167824G>A	ENST00000414150.2	+	20	3625	c.3347G>A	c.(3346-3348)cGg>cAg	p.R1116Q	MROH7_ENST00000409996.1_Missense_Mutation_p.R684Q|MROH7_ENST00000421030.2_Missense_Mutation_p.R1116Q|MROH7_ENST00000454855.2_Missense_Mutation_p.R634Q					maestro heat-like repeat family member 7																		CAGAAGCTTCGGGCACCACGC	0.617000													4	12					0	0	0.000602214	0	0
MOXD1	26002	broad.mit.edu	37	6	132636902	132636902	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:132636902G>A	ENST00000367963.3	-	10	1498	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	MOXD1_ENST00000336749.3_Silent_p.T392T|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	460					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTTCACTCCTGGTGCTTAGTC	0.358000													37	82					0	0	0.000319135	0	0
UGT8	7368	broad.mit.edu	37	4	115544196	115544196	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:115544196T>A	ENST00000310836.6	+	2	682	c.160T>A	c.(160-162)Ttc>Atc	p.F54I	UGT8_ENST00000394511.3_Missense_Mutation_p.F54I	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	54					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488000													20	13					0	0	0.000175454	0	0
CYLC1	1538	broad.mit.edu	37	X	83116169	83116169	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:83116169A>T	ENST00000329312.4	+	0	16					NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1						cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCTCAAGTCCAGGCAACGTAC	0.328000													12	8					0	0	0.000219431	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399065	22399065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:22399065G>A	ENST00000263160.3	+	12	1965	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	510					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGACCCGGAGGAAACAAGTGA	0.408000													7	30					0	0	0.000157383	0	0
CDH6	1004	broad.mit.edu	37	5	31299667	31299667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:31299667G>A	ENST00000265071.2	+	5	1005	c.740G>A	c.(739-741)gGa>gAa	p.G247E	CDH6_ENST00000514738.1_Missense_Mutation_p.G192E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	247	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGATGGGAGGATTATCTGGG	0.478000													16	47					0	0	0.000308642	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344997	131344997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:131344997C>T	ENST00000358161.5	+	14	1788	c.1675C>T	c.(1675-1677)Cac>Tac	p.H559Y	SPTAN1_ENST00000372739.3_Missense_Mutation_p.H559Y|SPTAN1_ENST00000372731.4_Missense_Mutation_p.H559Y			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	559					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAATGCCCTTCACGAGAGAGC	0.517000													16	48					0	0	0.000308642	0	0
VAV1	7409	broad.mit.edu	37	19	6825082	6825082	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:6825082C>G	ENST00000304076.2	+	7	767	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	VAV1_ENST00000602142.1_Missense_Mutation_p.Q225E|VAV1_ENST00000596764.1_Missense_Mutation_p.Q193E|VAV1_ENST00000539284.1_Missense_Mutation_p.Q128E|VAV1_ENST00000599806.1_Missense_Mutation_p.Q170E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	225	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAAGCCCCTGCAACGGTTCCT	0.527000													21	94					0	0	0.000720815	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000													20	72					0	0	0.000375601	0	0
GLI2	2736	broad.mit.edu	37	2	121748014	121748014	+	Silent	SNP	C	C	T	rs139840265	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121748014C>T	ENST00000452319.1	+	14	4584	c.4524C>T	c.(4522-4524)ccC>ccT	p.P1508P	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.P1508P			P10070	GLI2_HUMAN	GLI family zinc finger 2	1508					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGGAGGCCCCCCAGATTGACT	0.617000													16	68					0	0	0.000958276	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046168	38046168	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:38046168C>G	ENST00000442465.2	+	16	1517	c.1424C>G	c.(1423-1425)cCc>cGc	p.P475R	SH3BP1_ENST00000599616.1_Silent_p.A378A|SH3BP1_ENST00000357436.4_Silent_p.A442A|Z83844.1_ENST00000456099.1_RNA			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	588					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGGACCAGGCCCAGCTGGATG	0.607000													6	21					0	0	8.12818e-05	0	0
ABCC8	6833	broad.mit.edu	37	11	17483187	17483187	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:17483187G>A	ENST00000302539.4	-	5	890	c.765C>T	c.(763-765)atC>atT	p.I255I	ABCC8_ENST00000389817.3_Silent_p.I255I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	255					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)	CCCTCATGGCGATGGGCAGCT	0.587000													70	241					0	0	0.000781405	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:53770583C>T	ENST00000311170.4	-	1	389	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)			4	10					0	0	0.00024832	0	0
ABCB8	11194	broad.mit.edu	37	7	150725644	150725644	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:150725644A>C	ENST00000542328.1	+	1	108	c.91A>C	c.(91-93)Att>Ctt	p.I31L	ABCB8_ENST00000297504.6_Silent_p.P14P|ABCB8_ENST00000356058.4_Silent_p.P14P|ABCB8_ENST00000498578.1_Silent_p.P14P|ABCB8_ENST00000477719.1_Silent_p.P14P|ABCB8_ENST00000477092.1_Silent_p.P14P|ABCB8_ENST00000358849.4_Silent_p.P14P			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	0						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGTGGCCCATTCCCAGGCA	0.587000											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	23					0	0	0.000157383	0	0
OR56A1	120796	broad.mit.edu	37	11	6048593	6048593	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:6048593G>A	ENST00000316650.5	-	1	378	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGGGGAGGAAACTGTTCA	0.522000													4	26					0	0	0.000602214	0	0
C16orf91	283951	broad.mit.edu	37	16	1470510	1470510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:1470510G>A	ENST00000310355.1	-	4	606	c.607C>T	c.(607-609)Cct>Tct	p.P203S	C16orf91_ENST00000563974.1_5'UTR|C16orf91_ENST00000442039.2_Missense_Mutation_p.P46S			Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	46						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGGCGGTCAGGGTCGTCCTCT	0.657000													3	10					0	0	0.00024832	0	0
MRPS7	51081	broad.mit.edu	37	17	73258561	73258561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:73258561C>T	ENST00000579002.1	+	1	569	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTGCCTCCTCCTTTCCCCCCC	0.557000													28	72					0	0	0.000692331	0	0
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:125396503G>A	ENST00000536769.1	-	1	3391	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 8.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537000													6	81					0	0	8.12818e-05	0	0
CSMD3	114788	broad.mit.edu	37	8	113277712	113277712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:113277712C>T	ENST00000297405.5	-	60	9860	c.9616G>A	c.(9616-9618)Gaa>Aaa	p.E3206K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E3166K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E3136K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E3037K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3206	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTCAATTCCATCGTGTAG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			22	87					0	0	0.000229342	0	0
TRIM27	5987	broad.mit.edu	37	6	28872284	28872284	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:28872284C>A	ENST00000377199.3	-	8	1461	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	369	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TAATGTCTCCCGGCGATGAAG	0.542000			T	RET	papillary thyroid								6	58					0.000157383	0.00207249	0.000157383	1	0
DHFRL1	200895	broad.mit.edu	37	3	93780296	93780296	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:93780296G>A	ENST00000394221.2	-	2	509	c.60C>T	c.(58-60)aaC>aaT	p.N20N	DHFRL1_ENST00000314636.2_Silent_p.N20N|DHFRL1_ENST00000481631.1_5'UTR	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	20	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GCAGGTCCCCGTTCTTGCCGA	0.507000													20	56					0	0	0.000375601	0	0
TNK2	10188	broad.mit.edu	37	3	195611830	195611830	+	Silent	SNP	G	G	T	rs56054753		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:195611830G>T	ENST00000333602.6	-	4	926	c.309C>A	c.(307-309)ccC>ccA	p.P103P	TNK2_ENST00000392400.1_Silent_p.P103P|TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Silent_p.P135P|TNK2_ENST00000316664.3_Silent_p.P103P|TNK2_ENST00000381916.2_Silent_p.P166P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	103	SAM-like domain.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCCCAGGGGCGGGCGAGGTCT	0.647000													6	19					1.06961e-07	1.44814e-06	0.000157383	1	0
TENM3	55714	broad.mit.edu	37	4	183650198	183650198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:183650198G>A	ENST00000511685.1	+	14	2572	c.2449G>A	c.(2449-2451)Gat>Aat	p.D817N	TENM3_ENST00000406950.2_Missense_Mutation_p.D817N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGGACTGCCGGATCCTCAGGA	0.483000													10	29					0	0	0.000442599	0	0
FGFR2	2263	broad.mit.edu	37	10	123239441	123239441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:123239441G>A	ENST00000358487.5	-	18	2668	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.S685F|FGFR2_ENST00000478859.1_Missense_Mutation_p.S571F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S682F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S800F|FGFR2_ENST00000369061.4_Missense_Mutation_p.S687F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S797F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S683F	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	799					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GGGGTCTGGAGAAAAAACAGA	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				19	43					0	0	0.000132079	0	0
UNC79	57578	broad.mit.edu	37	14	94158280	94158280	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:94158280C>T	ENST00000553484.1	+	48	7795	c.7641C>T	c.(7639-7641)gcC>gcT	p.A2547A	UNC79_ENST00000555664.1_Silent_p.A2486A|UNC79_ENST00000393151.2_Silent_p.A2525A|UNC79_ENST00000256339.4_Silent_p.A2348A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2525						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCTAATGGCCCATAACAAAG	0.453000													15	60					0	0	0.00074312	0	0
TFDP3	51270	broad.mit.edu	37	X	132351834	132351834	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:132351834C>T	ENST00000310125.4	-	1	542	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	152						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TAAGCTGACTCGTTTGGTGAG	0.527000													11	24					0	0	0.000219431	0	0
ETV1	2115	broad.mit.edu	37	7	13946092	13946092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:13946092C>T	ENST00000343495.5	-	11	1757	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	ETV1_ENST00000403685.1_Missense_Mutation_p.G340D|ETV1_ENST00000399357.3_Missense_Mutation_p.G255D|ETV1_ENST00000430479.1_Missense_Mutation_p.G358D|ETV1_ENST00000242066.5_Missense_Mutation_p.G340D|ETV1_ENST00000420159.2_Missense_Mutation_p.G300D|ETV1_ENST00000405218.2_Missense_Mutation_p.G358D|ETV1_ENST00000405192.2_Missense_Mutation_p.G335D|ETV1_ENST00000403527.1_Missense_Mutation_p.G318D|ETV1_ENST00000405358.4_Missense_Mutation_p.G372D			P50549	ETV1_HUMAN	ets variant 1	358					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATGCCTCGACCAGTCCAGGC	0.408000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	20					0	0	0.000274275	0	0
TPTE2	93492	broad.mit.edu	37	13	20025323	20025323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:20025323G>A	ENST00000400230.2	-	11	828	c.784C>T	c.(784-786)Cga>Tga	p.R262*	TPTE2_ENST00000382975.4_Nonsense_Mutation_p.R222*|TPTE2_ENST00000400103.2_Nonsense_Mutation_p.R151*|TPTE2_ENST00000255310.6_Nonsense_Mutation_p.R185*|TPTE2_ENST00000390680.2_Nonsense_Mutation_p.R185*|TPTE2_ENST00000457266.2_Nonsense_Mutation_p.R151*|TPTE2_ENST00000382977.4_Nonsense_Mutation_p.R262*|TPTE2_ENST00000382978.1_Nonsense_Mutation_p.R222*			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	262	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTGTAGACTCGATAGTGGTTT	0.338000													13	49					0	0	0.000422831	0	0
SAT2	112483	broad.mit.edu	37	17	7529810	7529810	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:7529810G>A	ENST00000269298.5	-	6	687	c.468C>T	c.(466-468)ttC>ttT	p.F156F	SHBG_ENST00000572262.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576728.1_Intron|SAT2_ENST00000573566.1_Silent_p.F122F|SHBG_ENST00000576478.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000574539.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	156	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GAAAGCAGAAGAAGTGCCAGC	0.562000													13	44					0	0	0.000151284	0	0
SPSB1	80176	broad.mit.edu	37	1	9416644	9416644	+	Splice_Site	SNP	C	C	T	rs150195464		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:9416644C>T	ENST00000328089.6	+	2	1035	c.694_splice	c.e2+1	p.P232_splice	SPSB1_ENST00000377399.2_Splice_Site_p.P232_splice|SPSB1_ENST00000357898.3_Splice_Site_p.P232_splice	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	232	SOCS box.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CGGACTCGATCGTAAGTGTCT	0.532000													12	25					0	0	0.000151284	0	0
SP140L	93349	broad.mit.edu	37	2	231254723	231254723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:231254723G>A	ENST00000243810.6	+	11	949	c.949G>A	c.(949-951)Gag>Aag	p.E317K	SP140L_ENST00000444636.1_Missense_Mutation_p.E317K|SP140L_ENST00000396563.4_Intron|SP140L_ENST00000415673.2_Missense_Mutation_p.E317K			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	317	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TTTACATAAGGAGAAATTGGA	0.398000													8	32					0	0	0.000274275	0	0
MMP1	4312	broad.mit.edu	37	11	102663421	102663421	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:102663421G>A	ENST00000315274.6	-	7	1015	c.948C>T	c.(946-948)ttC>ttT	p.F316F	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	316	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		AAACAGAAATGAAATTGAGCT	0.393000													15	59					0	0	0.000422831	0	0
PIGR	5284	broad.mit.edu	37	1	207110523	207110523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:207110523C>T	ENST00000356495.4	-	4	1145	c.962G>A	c.(961-963)gGg>gAg	p.G321E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	321	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGTAGCGCCCTGCATCCTC	0.592000													4	20					0	0	0.000602214	0	0
HTR3B	9177	broad.mit.edu	37	11	113802541	113802541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:113802541C>T	ENST00000260191.2	+	4	577	c.320C>T	c.(319-321)tCc>tTc	p.S107F	HTR3B_ENST00000537778.1_Missense_Mutation_p.S96F	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	107					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		AGAGAGATCTCCCTACCTCTA	0.423000													11	59					0	0	0.000219431	0	0
C13orf35	400165	broad.mit.edu	37	13	113333799	113333799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:113333799G>A	ENST00000356049.1	+	2	864	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	36								p.D36Y(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			CCTGAAGATGGACCCGGCAGG	0.617000													7	15					0	0	8.12818e-05	0	0
SGSM1	129049	broad.mit.edu	37	22	25243686	25243686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:25243686G>A	ENST00000400358.4	+	4	282	c.225G>A	c.(223-225)atG>atA	p.M75I	SGSM1_ENST00000400359.4_Missense_Mutation_p.M75I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	75	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCTCTTTATGAAAGTGGGCA	0.622000													7	24					0	0	0.000157383	0	0
RYR1	6261	broad.mit.edu	37	19	39003109	39003109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:39003109G>A	ENST00000355481.4	+	63	9589	c.9458G>A	c.(9457-9459)gGa>gAa	p.G3153E	RYR1_ENST00000359596.3_Missense_Mutation_p.G3153E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3153E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3153					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACCAGTTCGGAGATGACGTC	0.637000													12	36					0	0	0.000219431	0	0
PCF11	51585	broad.mit.edu	37	11	82892196	82892196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:82892196G>A	ENST00000298281.4	+	12	4582	c.4130G>A	c.(4129-4131)cGa>cAa	p.R1377Q	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1377					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGTTAGCCGAAAAGTCACT	0.358000													6	38					0	0	0.000274275	0	0
LRRC23	10233	broad.mit.edu	37	12	7019057	7019057	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:7019057C>T	ENST00000007969.8	+	6	845	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	LRRC23_ENST00000443597.2_Nonsense_Mutation_p.Q209*|LRRC23_ENST00000436789.1_Intron|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000323702.5_Nonsense_Mutation_p.Q209*	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	209										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						GGTCTAGGCCCAAAACATGCT	0.498000													11	45					0	0	0.00010058	0	0
AP1M1	8907	broad.mit.edu	37	19	16338471	16338471	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:16338471C>T	ENST00000291439.3	+	7	1235	c.786C>T	c.(784-786)ttC>ttT	p.F262F	AP1M1_ENST00000444449.2_Silent_p.F274F|AP1M1_ENST00000590756.1_Silent_p.F190F|AP1M1_ENST00000541844.1_Silent_p.F190F|AP1M1_ENST00000429941.2_Silent_p.F262F	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	262	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACGGCGAGTTCGAGCTCATGT	0.612000													38	128					0	0	0.000589545	0	0
OR7D2	162998	broad.mit.edu	37	19	9297154	9297154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9297154G>A	ENST00000344248.2	+	1	876	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	233					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCATCTGGGGGAAAACAAAA	0.468000													12	33					0	0	6.40141e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70926413	70926413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:70926413C>T	ENST00000393567.2	-	56	9418	c.9268G>A	c.(9268-9270)Ggg>Agg	p.G3090R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3090										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTGAAATCCCTACAGAGTCC	0.433000													7	24					0	0	6.40141e-05	0	0
ERBB3	2065	broad.mit.edu	37	12	56487288	56487288	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:56487288G>A	ENST00000267101.3	+	12	1874	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	ERBB3_ENST00000415288.2_Silent_p.T419T|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	478					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGGGCCTACGGAAGAGCGAC	0.552000													8	32					0	0	0.000673444	0	0
EMC10	284361	broad.mit.edu	37	19	50983459	50983459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50983459C>T	ENST00000376918.3	+	4	435	c.389C>T	c.(388-390)tCc>tTc	p.S130F	EMC10_ENST00000598585.1_Missense_Mutation_p.S130F|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000334976.6_Missense_Mutation_p.S130F	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		TATGTCTCCTCCTTTGTCCCT	0.642000													6	15					0	0	0.000157383	0	0
GPRC5A	9052	broad.mit.edu	37	12	13061495	13061495	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:13061495C>T	ENST00000014914.5	+	2	1202	c.312C>T	c.(310-312)ctC>ctT	p.L104L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	104						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTGGGATCCTCTTTTCCATCT	0.587000													21	107					0	0	0.000375601	0	0
DNM3	26052	broad.mit.edu	37	1	171958194	171958194	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:171958194G>A	ENST00000358155.4	+	4	671	c.495G>A	c.(493-495)acG>acA	p.T165T	DNM3_ENST00000520906.1_Silent_p.T165T|DNM3_ENST00000367733.2_Silent_p.T165T|DNM3_ENST00000367731.1_Silent_p.T165T|DNM3_ENST00000355305.5_Silent_p.T165T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	165					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTCATCACGAGGGAGAACT	0.433000													5	13					0	0	0.000602214	0	0
PDE3B	5140	broad.mit.edu	37	11	14665713	14665713	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:14665713A>G	ENST00000282096.4	+	1	445	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	PDE3B_ENST00000455098.2_Missense_Mutation_p.Y31C	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	31					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGAACGGCTACGTGAAGAGC	0.711000													3	7					0	0	6.4e-05	0	0
BTBD7	55727	broad.mit.edu	37	14	93712229	93712229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:93712229G>A	ENST00000334746.5	-	10	2832	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	BTBD7_ENST00000393170.2_Missense_Mutation_p.A416V|BTBD7_ENST00000554565.1_Missense_Mutation_p.A491V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	842										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGTGGTGGCGGCAGCAGCAGC	0.552000													6	15					0	0	3.59834e-05	0	0
C10orf71	118461	broad.mit.edu	37	10	50532236	50532236	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:50532236A>G	ENST00000374144.3	+	3	1934	c.1646A>G	c.(1645-1647)gAg>gGg	p.E549G	C10orf71_ENST00000323868.4_Missense_Mutation_p.E549G			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	549										endometrium(1)	1						AATGGGCTTGAGGAAAGCCCT	0.512000													9	21					0	0	0.000274275	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057982	152057982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152057982C>T	ENST00000368806.1	-	3	2240	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	726							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GAATTGTCCTCATCTAGACTT	0.458000													16	77					0	0	0.00074312	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686256	108686256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:108686256C>T	ENST00000397688.2	-	3	847	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CMKLR1_ENST00000550402.1_Missense_Mutation_p.V162I|CMKLR1_ENST00000412676.1_Missense_Mutation_p.V162I|CMKLR1_ENST00000552995.1_Missense_Mutation_p.V160I|CMKLR1_ENST00000312143.7_Missense_Mutation_p.V162I	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	162					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCCAGATGACCATGCAGGCC	0.562000													18	49					0	0	0.000229342	0	0
ADD1	118	broad.mit.edu	37	4	2900018	2900018	+	Silent	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:2900018A>G	ENST00000355842.3	+	8	1712	c.849A>G	c.(847-849)aaA>aaG	p.K283K	ADD1_ENST00000398125.1_Silent_p.K283K|ADD1_ENST00000503455.2_Silent_p.K283K|ADD1_ENST00000513328.2_Silent_p.K283K|ADD1_ENST00000398129.1_Silent_p.K283K|ADD1_ENST00000264758.7_Silent_p.K283K|ADD1_ENST00000446856.1_Silent_p.K283K|ADD1_ENST00000398123.2_Silent_p.K283K			P35611	ADDA_HUMAN	adducin 1 (alpha)	283					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGAGGAAAAAGTTTTGATTC	0.428000													15	58					0	0	0.000422831	0	0
COL1A2	1278	broad.mit.edu	37	7	94050342	94050342	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:94050342C>T	ENST00000297268.6	+	38	2788	c.2317C>T	c.(2317-2319)Cct>Tct	p.P773S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	773			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCCGGTCCTGCTGGAAG	0.433000										HNSCC(75;0.22)			16	59					0	0	0.000958276	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1969910	1969910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:1969910C>T	ENST00000255641.8	+	2	634	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	47	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		CCCCAACTTCCGCGTCGGCAA	0.721000													9	28					0	0	0.000673444	0	0
PLXNA4	91584	broad.mit.edu	37	7	131878935	131878935	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:131878935G>A	ENST00000359827.3	-	14	3704	c.2742C>T	c.(2740-2742)atC>atT	p.I914I	PLXNA4_ENST00000321063.4_Silent_p.I914I			Q9HCM2	PLXA4_HUMAN	plexin A4	914	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTCACACACGATCCTGCAGG	0.607000													14	54					0	0	0.000308642	0	0
ZNF394	84124	broad.mit.edu	37	7	99097265	99097265	+	Missense_Mutation	SNP	G	G	A	rs143330361		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:99097265G>A	ENST00000337673.6	-	1	655	c.452C>T	c.(451-453)tCc>tTc	p.S151F	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.S151F|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	151					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTCACCTGGGATGAGGTTCC	0.592000													23	98					0	0	0.000878237	0	0
CENPI	2491	broad.mit.edu	37	X	100417919	100417919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:100417919C>T	ENST00000372927.1	+	21	2511	c.2234C>T	c.(2233-2235)cCc>cTc	p.P745L	CENPI_ENST00000218507.5_Missense_Mutation_p.P731L|CENPI_ENST00000423383.1_Missense_Mutation_p.P745L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	745					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTTCCATTCCCAGAGCAGAG	0.378000													26	33					0	0	0.000184323	0	0
AQP6	363	broad.mit.edu	37	12	50369414	50369414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:50369414C>T	ENST00000315520.5	+	4	1146	c.809C>T	c.(808-810)tCc>tTc	p.S270F	AQP6_ENST00000551733.1_Missense_Mutation_p.S96F	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	270					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						AAGAAGGAATCCCAGCCGGGT	0.672000													5	12					0	0	0.000602214	0	0
STAB2	55576	broad.mit.edu	37	12	104142808	104142808	+	Silent	SNP	G	G	A	rs151012888		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:104142808G>A	ENST00000388887.2	+	59	6516	c.6312G>A	c.(6310-6312)acG>acA	p.T2104T	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2104	EGF-like 16.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAAGGGCACGAAGGTCTCCT	0.582000													10	26					0	0	6.40141e-05	0	0
FES	2242	broad.mit.edu	37	15	91430500	91430500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:91430500G>A	ENST00000328850.3	+	5	710	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	FES_ENST00000414248.2_Missense_Mutation_p.V132M|FES_ENST00000450438.2_Missense_Mutation_p.V132M|FES_ENST00000394300.3_Missense_Mutation_p.V132M|FES_ENST00000444422.2_Missense_Mutation_p.V190M|FES_ENST00000394302.1_Missense_Mutation_p.V132M	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	190	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTGCTGGGCGTGCGGGCTGC	0.627000													43	192					0	0	0.000680045	0	0
ANXA11	311	broad.mit.edu	37	10	81917398	81917398	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:81917398G>A	ENST00000438331.1	-	16	1939	c.1458_splice	c.e16+1	p.S486_splice	ANXA11_ENST00000265447.4_Splice_Site_p.S486_splice|ANXA11_ENST00000422982.3_Splice_Site_p.S486_splice|ANXA11_ENST00000360615.4_Splice_Site_p.S486_splice|ANXA11_ENST00000372231.3_Splice_Site_p.S486_splice|ANXA11_ENST00000537102.1_Splice_Site_p.S453_splice|ANXA11_ENST00000535999.1_Splice_Site_p.S486_splice	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	486					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGCCCGTACCGAGATGTCGTG	0.577000													10	29					0	0	0.000151284	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056698	183056698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:183056698G>A	ENST00000328913.3	-	5	673	c.376C>T	c.(376-378)Cca>Tca	p.P126S	MCF2L2_ENST00000447025.2_Missense_Mutation_p.P126S|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P126S|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P126S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGTTTCCTGGAAATGCCACC	0.418000													13	41					0	0	0.000308642	0	0
GUF1	60558	broad.mit.edu	37	4	44691384	44691384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:44691384C>T	ENST00000281543.5	+	10	1354	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	387					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TCCAGTGTGACCGTTCATCGG	0.393000													14	50					0	0	0.000308642	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638892	26638892	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:26638892C>T	ENST00000264866.4	+	5	632	c.354C>T	c.(352-354)atC>atT	p.I118I	TBC1D19_ENST00000511789.1_Silent_p.I53I|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	118						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTGAGTATCCCACTGGCAC	0.303000													16	54					0	0	0.00074312	0	0
PFKFB1	5207	broad.mit.edu	37	X	54975519	54975519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:54975519C>T	ENST00000375006.3	-	9	1052	c.982G>A	c.(982-984)Gag>Aag	p.E328K	PFKFB1_ENST00000545676.1_Missense_Mutation_p.E263K|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	328	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCATCAATCTCATTCAGGGCC	0.582000													10	13					0	0	0.000673444	0	0
PSG5	5673	broad.mit.edu	37	19	43683261	43683261	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:43683261T>C	ENST00000599812.1	-	3	574	c.479A>G	c.(478-480)gAg>gGg	p.E160G	PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				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)				CTCCATGGCCTCCCTGGGGTT	0.522000													37	100					0	0	0.000953801	0	0
EIF3D	8664	broad.mit.edu	37	22	36922108	36922108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:36922108C>T	ENST00000216190.8	-	2	431	c.61G>A	c.(61-63)Gtt>Att	p.V21I	EIF3D_ENST00000405442.1_Missense_Mutation_p.V21I|EIF3D_ENST00000541106.1_Missense_Mutation_p.V21I	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	21						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TGCTCGGGAACCGCACAGGGA	0.517000													6	36					0	0	3.59834e-05	0	0
GET4	51608	broad.mit.edu	37	7	925732	925732	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:925732C>T	ENST00000407192.1	+	1	2553	c.36C>T	c.(34-36)ctC>ctT	p.L12L	GET4_ENST00000265857.3_Silent_p.L65L			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	65				EQESARNGGRNRGG -> DRRAPATALQPRA (in Ref. 6; AAD27729).	tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGGGAGCTCATGTACTCGG	0.652000													11	27					0	0	0.00010058	0	0
RXFP2	122042	broad.mit.edu	37	13	32366925	32366925	+	Missense_Mutation	SNP	C	C	T	rs150335466		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:32366925C>T	ENST00000298386.2	+	16	1557	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	RXFP2_ENST00000380314.1_Missense_Mutation_p.R472C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	496						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CGTGCAGTGCCGCCTCATGGG	0.498000													9	51					0	0	0.000274275	0	0
CAD	790	broad.mit.edu	37	2	27445437	27445437	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:27445437C>T	ENST00000264705.4	+	5	708	c.546C>T	c.(544-546)gaC>gaT	p.D182D	CAD_ENST00000403525.1_Silent_p.D182D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	182	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTGCTTTGGACTGTGGCCTCA	0.552000													7	31					0	0	0.000274275	0	0
KCNA1	3736	broad.mit.edu	37	12	5020959	5020959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:5020959G>A	ENST00000382545.3	+	2	1522	c.415G>A	c.(415-417)Gag>Aag	p.E139K	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	139					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCATCAAGGAGGAGGAGCG	0.627000													7	34					0	0	8.12818e-05	0	0
RIT2	6014	broad.mit.edu	37	18	40695429	40695429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:40695429C>T	ENST00000589109.1	-	1	227	c.56G>A	c.(55-57)aGa>aAa	p.R19K	RIT2_ENST00000326695.5_Missense_Mutation_p.R19K|RIT2_ENST00000590910.1_Missense_Mutation_p.R19K|RIT2_ENST00000282028.4_Missense_Mutation_p.R19K	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	19					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.R19I(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGTACTCTCTGGACCCGCC	0.542000													12	68					0	0	0.000308642	0	0
MYH13	8735	broad.mit.edu	37	17	10206605	10206605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:10206605C>A	ENST00000418404.3	-	38	5738	c.5575G>T	c.(5575-5577)Gag>Tag	p.E1859*	MYH13_ENST00000570743.1_Nonsense_Mutation_p.E1859*|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1859*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1859					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						TGGTCCTCCTCAGCCTGCAAA	0.552000													6	96					8.12818e-05	0.00107488	8.12818e-05	1	0
GAL3ST2	64090	broad.mit.edu	37	2	242742801	242742801	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:242742801C>T	ENST00000192314.6	+	4	548	c.417C>T	c.(415-417)atC>atT	p.I139I		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	139					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)		ACTTCTCCATCCTGAGGAACC	0.657000													7	19					0	0	0.000673444	0	0
IGLV1-44	28823	broad.mit.edu	37	22	22735540	22735540	+	RNA	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:22735540C>T	ENST00000390297.2	+	0	291																											ACCAGCAGCTCCCAGGAACGG	0.577000													15	86					0	0	0.000566183	0	0
FPR1	2357	broad.mit.edu	37	19	52249583	52249583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52249583C>T	ENST00000595042.1	-	3	806	c.665G>A	c.(664-666)gGg>gAg	p.G222E	FPR1_ENST00000304748.4_Missense_Mutation_p.G222E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGCAATAAGCCCATAACTGAC	0.522000													19	51					0	0	0.000958276	0	0
HOXC11	3227	broad.mit.edu	37	12	54367074	54367074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:54367074G>A	ENST00000546378.1	+	1	165	c.49G>A	c.(49-51)Gag>Aag	p.E17K	HOXC11_ENST00000243082.4_Missense_Mutation_p.E17K|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	17					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GTCGCGCAAGGAGAGGGGCGC	0.597000			T	NUP98	AML								15	26					0	0	0.000132079	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409284	4409284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4409284C>T	ENST00000301280.5	+	3	589	c.488C>T	c.(487-489)gCc>gTc	p.A163V		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	163	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTGAAGGCCATTCAGAAC	0.517000								Chromatin Structure					27	76					0	0	0.000878237	0	0
ABCB11	8647	broad.mit.edu	37	2	169780144	169780144	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:169780144G>A	ENST00000263817.6	-	28	4078	c.3954C>T	c.(3952-3954)tcC>tcT	p.S1318S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1318					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AACTGATGGGGGATCCAGTGG	0.478000													7	35					0	0	0.000442599	0	0
ABCA13	154664	broad.mit.edu	37	7	48266947	48266947	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:48266947C>A	ENST00000435803.1	+	6	581	c.557C>A	c.(556-558)cCg>cAg	p.P186Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	186					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						CTTTTACTGCCGAGACTACAC	0.418000													6	104					8.12818e-05	0.00107488	8.12818e-05	1	0
IRX2	153572	broad.mit.edu	37	5	2748634	2748634	+	Silent	SNP	C	C	T	rs148326536		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:2748634C>T	ENST00000382611.6	-	3	1436	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	IRX2_ENST00000302057.5_Silent_p.G396G	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	396						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTTCAAGTTCCCGTAGTTTG	0.716000													6	31					0	0	0.000157383	0	0
SNTG2	54221	broad.mit.edu	37	2	1204872	1204872	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:1204872C>T	ENST00000308624.5	+	9	804	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SNTG2_ENST00000407292.1_Silent_p.S98S|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	225					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCCTCTGTCCATGGCTCGCA	0.527000													21	79					0	0	0.000375601	0	0
NAT2	10	broad.mit.edu	37	8	18257721	18257721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:18257721C>T	ENST00000286479.3	+	2	315	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	70					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GTGGTGTCTCCAGGTCAATCA	0.453000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				15	65					0	0	0.000422831	0	0
ENG	2022	broad.mit.edu	37	9	130580444	130580444	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:130580444G>A	ENST00000344849.3	-	12	1921	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	ENG_ENST00000373203.4_Silent_p.L547L|RP11-228B15.4_ENST00000439298.1_RNA|ENG_ENST00000480266.1_5'UTR|RP11-228B15.4_ENST00000425991.1_RNA			P17813	EGLN_HUMAN	endoglin	547	Ser/Thr-rich.				artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCGTGCAGCTGAGGGTGCCGG	0.637000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				7	28					0	0	0.000157383	0	0
WDR59	79726	broad.mit.edu	37	16	74949783	74949783	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:74949783C>T	ENST00000262144.6	-	13	1339	c.1209G>A	c.(1207-1209)cgG>cgA	p.R403R		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	403	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTGACATTCCGGATTTGCA	0.453000													10	62					0	0	0.000673444	0	0
MUSK	4593	broad.mit.edu	37	9	113509958	113509958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:113509958G>A	ENST00000416899.2	+	7	917	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MUSK_ENST00000189978.5_Missense_Mutation_p.R264Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R264Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	264	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGAAAGACCGAGTGATTGAC	0.438000													35	118					0	0	0.000680045	0	0
C7	730	broad.mit.edu	37	5	40972545	40972545	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:40972545G>A	ENST00000313164.9	+	15	2282	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	641	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGGCATACAGAGTCACCCCC	0.423000													13	26					0	0	0.00010058	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170400	72170400	+	Missense_Mutation	SNP	C	C	G	rs149950926	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:72170400C>G	ENST00000537465.1	-	9	1308	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E239Q|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E384Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	384								p.E384Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGCTGCAGCTCCTGCAGCCGG	0.557000													16	51					0	0	0.000958276	0	0
UTP11L	51118	broad.mit.edu	37	1	38484757	38484757	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:38484757C>T	ENST00000373014.4	+	5	430	c.369C>T	c.(367-369)ctC>ctT	p.L123L	UTP11L_ENST00000537711.1_Silent_p.L123L|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	123					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AATCAGAGCTCCATCTGCTGG	0.363000													14	41					0	0	0.000566183	0	0
RFX7	64864	broad.mit.edu	37	15	56387736	56387736	+	Silent	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:56387736T>C	ENST00000423270.1	-	9	2189	c.2190A>G	c.(2188-2190)caA>caG	p.Q730Q	RFX7_ENST00000559447.2_Silent_p.Q633Q|RFX7_ENST00000317318.6_Silent_p.Q730Q|RFX7_ENST00000422057.1_Silent_p.Q633Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	633					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATTCAAGGGTTGATTTGCTC	0.413000													10	40					0	0	6.40141e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	42080539	42080539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:42080539C>T	ENST00000400454.1	-	2	679	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	68	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D68N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGGGGACATCGTAGATCTCC	0.562000													15	29					0	0	0.000308642	0	0
SPTA1	6708	broad.mit.edu	37	1	158609424	158609424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:158609424C>T	ENST00000368148.3	-	35	5108	c.4928G>A	c.(4927-4929)gGa>gAa	p.G1643E	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1643E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1643					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGTAGGTTTCCTGCTGAAGC	0.468000													27	82					0	0	0.000409698	0	0
ELMOD1	55531	broad.mit.edu	37	11	107526672	107526672	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:107526672A>G	ENST00000265840.7	+	11	977	c.712A>G	c.(712-714)Att>Gtt	p.I238V	ELMOD1_ENST00000531234.1_Missense_Mutation_p.I232V|ELMOD1_ENST00000443271.2_Missense_Mutation_p.I230V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	238	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTCATTTGCAATTGTGGGCAT	0.393000													3	15					0	0	0.000602214	0	0
CACNA1C	775	broad.mit.edu	37	12	2717803	2717803	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:2717803C>T	ENST00000399655.1	+	27	3748	c.3483C>T	c.(3481-3483)ttC>ttT	p.F1161F	CACNA1C_ENST00000399649.1_Silent_p.F1161F|CACNA1C_ENST00000402845.3_Silent_p.F1161F|CACNA1C_ENST00000347598.4_Silent_p.F1181F|CACNA1C_ENST00000327702.7_Silent_p.F1161F|CACNA1C_ENST00000406454.3_Silent_p.F1161F|CACNA1C_ENST00000399601.1_Silent_p.F1161F|CACNA1C_ENST00000399634.1_Silent_p.F1161F|CACNA1C_ENST00000399617.1_Silent_p.F1161F|CACNA1C_ENST00000399603.1_Silent_p.F1161F|CACNA1C_ENST00000344100.3_Silent_p.F1161F|CACNA1C_ENST00000399591.1_Silent_p.F1161F|CACNA1C_ENST00000399606.1_Silent_p.F1181F|CACNA1C_ENST00000399597.1_Silent_p.F1161F|CACNA1C_ENST00000399621.1_Silent_p.F1161F|CACNA1C_ENST00000480911.1_Silent_p.F1161F|CACNA1C_ENST00000399641.1_Silent_p.F1161F|CACNA1C_ENST00000399595.1_Silent_p.F1161F|CACNA1C_ENST00000399644.1_Silent_p.F1161F|CACNA1C_ENST00000399638.1_Silent_p.F1161F|CACNA1C_ENST00000399637.1_Silent_p.F1161F|CACNA1C_ENST00000335762.5_Silent_p.F1186F|CACNA1C_ENST00000399629.1_Silent_p.F1161F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1181	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	tgaacatcttcgtgggcttcg	0.512000													9	25					0	0	0.000274275	0	0
DMGDH	29958	broad.mit.edu	37	5	78338268	78338268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:78338268C>T	ENST00000255189.3	-	7	1059	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	DMGDH_ENST00000380311.4_Missense_Mutation_p.R143Q|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCCATGATTCGATCTAGATC	0.428000													22	55					0	0	0.000184323	0	0
LAMA2	3908	broad.mit.edu	37	6	129637294	129637294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:129637294G>A	ENST00000421865.2	+	27	4085	c.4036G>A	c.(4036-4038)Gga>Aga	p.G1346R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1346	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTACTTATGGAAATTTCAT	0.338000													12	65					0	0	6.40141e-05	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933457	31933457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:31933457G>A	ENST00000334849.2	-	1	176	c.152C>T	c.(151-153)cCa>cTa	p.P51L		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	51						intermediate filament		p.P51Q(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATAGCATGATGGGTGGCAGCA	0.473000													22	90					0	0	0.000586117	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092619	151092619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:151092619G>A	ENST00000370335.1	+	3	750	c.483G>A	c.(481-483)atG>atA	p.M161I	MAGEA4_ENST00000393921.1_Missense_Mutation_p.M161I|MAGEA4_ENST00000276344.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000370337.4_Missense_Mutation_p.M161I|MAGEA4_ENST00000360243.2_Missense_Mutation_p.M161I|MAGEA4_ENST00000370340.3_Missense_Mutation_p.M161I|MAGEA4_ENST00000393920.1_Missense_Mutation_p.M161I			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	161	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAAGATGATCTTTGGCA	0.517000													26	37					0	0	0.000147802	0	0
IKBKAP	8518	broad.mit.edu	37	9	111643998	111643998	+	Silent	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:111643998A>G	ENST00000374647.5	-	31	3640	c.3333T>C	c.(3331-3333)ccT>ccC	p.P1111P	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Silent_p.P762P	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1111					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTAAAATGGAAGGCTTTACGT	0.363000													10	35					0	0	0.000673444	0	0
P4HA2	8974	broad.mit.edu	37	5	131539494	131539494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:131539494G>A	ENST00000401867.1	-	11	1766	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	P4HA2_ENST00000379100.2_Missense_Mutation_p.R400C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R400C|P4HA2_ENST00000360568.3_Missense_Mutation_p.R400C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R400C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R400C			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	400						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGCATCCGACGATTTACTCGG	0.483000													7	13					0	0	0.000442599	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829450	146829450	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:146829450C>T	ENST00000361727.3	+	8	1713	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	399					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTCAGTTTCCAGTTTAGGA	0.493000										HNSCC(39;0.1)			15	20					0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13913969	13913969	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:13913969G>A	ENST00000265104.4	-	11	1523	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.F473F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAAGTTTCGAATTTTCCAA	0.373000									Kartagener syndrome				18	71					0	0	0.00074312	0	0
CD5L	922	broad.mit.edu	37	1	157805633	157805633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:157805633G>A	ENST00000368174.4	-	3	464	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	123	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTCTCACACGATGCCCCAGC	0.502000													24	66					0	0	0.000878237	0	0
SAP130	79595	broad.mit.edu	37	2	128750785	128750785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:128750785C>T	ENST00000357702.5	-	12	1662	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	SAP130_ENST00000259235.3_Missense_Mutation_p.V511M|SAP130_ENST00000259234.6_Missense_Mutation_p.V485M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	511					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ATAGTGGACACGGAACTGGTG	0.453000													18	76					0	0	0.000229342	0	0
VCP	7415	broad.mit.edu	37	9	35066718	35066718	+	Silent	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:35066718T>C	ENST00000358901.6	-	4	1294	c.399A>G	c.(397-399)gtA>gtG	p.V133V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	133					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTAAGGTATACCTCGAAGA	0.473000													14	23					0	0	0.000151284	0	0
TCF7L1	83439	broad.mit.edu	37	2	85534770	85534770	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:85534770G>A	ENST00000282111.3	+	11	1538	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	421					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCCAGGGTAAGAAAAAGAAGA	0.542000													6	24					0	0	3.59834e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	43					0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9091402	9091402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9091402C>T	ENST00000397910.4	-	1	616	c.413G>A	c.(412-414)gGa>gAa	p.G138E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	138	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						GGTAAAATTTCCTTCTGTGGA	0.493000													8	37					0	0	0.000274275	0	0
RBM42	79171	broad.mit.edu	37	19	36124009	36124009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:36124009C>T	ENST00000262633.4	+	6	644	c.539C>T	c.(538-540)cCc>cTc	p.P180L	RBM42_ENST00000589559.1_Missense_Mutation_p.P151L|RBM42_ENST00000360475.4_Missense_Mutation_p.P151L|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.P126L|RBM42_ENST00000589871.1_Missense_Mutation_p.P158L|RBM42_ENST00000588161.1_Missense_Mutation_p.P150L	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	180	Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAGCCGGCCCCCGCCCTATG	0.687000													23	71					0	0	0.000878237	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129273	99129273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:99129273G>A	ENST00000394170.2	+	7	2172	c.1921G>A	c.(1921-1923)Ggc>Agc	p.G641S	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.G641S|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.G641S	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	641					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ATGTGGGAAAGGCTTTGGGAG	0.522000													11	23					0	0	6.40141e-05	0	0
SLC26A5	375611	broad.mit.edu	37	7	103029778	103029778	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:103029778G>A	ENST00000306312.3	-	13	1666	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	SLC26A5_ENST00000393727.1_Silent_p.L469L|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393735.2_Silent_p.L469L|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000393730.1_Intron|SLC26A5_ENST00000339444.6_Silent_p.L469L|SLC26A5_ENST00000393723.1_Intron|SLC26A5_ENST00000432958.2_Intron|SLC26A5_ENST00000393729.1_Silent_p.L432L	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	469					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TTACTTACCAGCTCTATTTTG	0.393000													21	57					0	0	0.000375601	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548615	20548615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:20548615C>T	ENST00000329697.6	-	14	1867	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	ACSM2B_ENST00000567001.1_Missense_Mutation_p.E567K|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E488K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E567K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	567					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTCCACTCCTTGTCTCGA	0.478000													27	132					0	0	0.000491102	0	0
C1orf85	112770	broad.mit.edu	37	1	156262907	156262907	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:156262907G>A	ENST00000362007.1	-	6	1175	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	C1orf85_ENST00000472870.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	383					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					CTAGCAGCATGAGCCCTGGGG	0.597000													6	44					0	0	0.000157383	0	0
CUZD1	50624	broad.mit.edu	37	10	124596416	124596416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:124596416C>T	ENST00000368904.1	-	7	1697	c.748G>A	c.(748-750)Gat>Aat	p.D250N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D250N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D250N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	250	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		TTGGCATAATCTGTAGACAAC	0.438000													21	67					0	0	0.000586117	0	0
GUCY2C	2984	broad.mit.edu	37	12	14849245	14849245	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:14849245G>A	ENST00000261170.3	-	1	274	c.138C>T	c.(136-138)gcC>gcT	p.A46A	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	46					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCTCTGCAAAGGCTGAGTTGC	0.493000													5	24					0	0	3.59834e-05	0	0
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	307	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGGTACCCGGGTTCACCAG	0.512000													14	43					0	0	0.000566183	0	0
LHX9	56956	broad.mit.edu	37	1	197898258	197898258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:197898258C>T	ENST00000367390.3	+	6	1063	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	LHX9_ENST00000367387.4_Missense_Mutation_p.P355S|LHX9_ENST00000561173.1_Intron|LHX9_ENST00000367391.1_Intron|LHX9_ENST00000337020.2_Intron	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	355					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGCTCTCACTCCACCCGGCAC	0.572000													13	56					0	0	0.000422831	0	0
TSTA3	7264	broad.mit.edu	37	8	144697003	144697003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:144697003G>A	ENST00000425753.2	-	4	447	c.344C>T	c.(343-345)aCc>aTc	p.T115I	TSTA3_ENST00000529064.1_Missense_Mutation_p.T115I	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	115					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GAAGATACAGGTGGACAGGCA	0.647000													7	26					0	0	8.12818e-05	0	0
ZAK	51776	broad.mit.edu	37	2	174096940	174096940	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:174096940C>T	ENST00000375213.3	+	13	1131	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.L351L	NM_016653.2	NP_057737.2																					TTCAGCAGCTCGTCAGAAAAG	0.378000													19	87					0	0	0.000295444	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:82544610G>A	ENST00000423517.2	-	7	13029	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_ENST00000437081.1_Missense_Mutation_p.S951F|PCLO_ENST00000333891.8_Missense_Mutation_p.S4231F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000													10	44					0	0	6.40141e-05	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864685	22864685	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:22864685G>A	ENST00000251822.6	+	5	1464	c.927G>A	c.(925-927)tcG>tcA	p.S309S	RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Silent_p.S331S|RHOBTB2_ENST00000522948.1_Silent_p.S316S	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	309	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGGGCCCCTCGGAGCCAGGGG	0.617000													14	37					0	0	0.000219431	0	0
MYH14	79784	broad.mit.edu	37	19	50764788	50764788	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:50764788C>A	ENST00000440075.2	+	21	2528	c.2481C>A	c.(2479-2481)ttC>ttA	p.F827L	MYH14_ENST00000596571.1_Missense_Mutation_p.F786L|MYH14_ENST00000598205.1_Missense_Mutation_p.F794L|MYH14_ENST00000601313.1_Missense_Mutation_p.F827L|MYH14_ENST00000262269.8_Missense_Mutation_p.F827L|MYH14_ENST00000425460.1_Missense_Mutation_p.F794L|MYH14_ENST00000376970.2_Missense_Mutation_p.F819L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	786	IQ.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCAAGATCTTCTTCCGGGCTG	0.637000													9	25					1.58986e-06	2.14323e-05	0.000673444	1	0
DDR2	4921	broad.mit.edu	37	1	162724418	162724418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:162724418G>A	ENST00000367922.2	+	6	628	c.190G>A	c.(190-192)Gac>Aac	p.D64N	DDR2_ENST00000367921.3_Missense_Mutation_p.D64N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	64	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTCAAGGCTGGACTCAGAAGA	0.537000													9	30					0	0	0.000442599	0	0
LEKR1	389170	broad.mit.edu	37	3	156763401	156763401	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:156763401C>T	ENST00000470811.1	+	14	2364	c.1029C>T	c.(1027-1029)acC>acT	p.T343T	LEKR1_ENST00000356539.4_Silent_p.T647T			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTTTCCCAACCTCAGATAAGC	0.517000													12	42					0	0	6.40141e-05	0	0
ANO2	57101	broad.mit.edu	37	12	5939637	5939637	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:5939637C>T	ENST00000546188.1	-	6	866	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ANO2_ENST00000327087.8_Silent_p.K264K|ANO2_ENST00000356134.5_Silent_p.K265K			Q9NQ90	ANO2_HUMAN	anoctamin 2	269						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGAAGGTGTCCTTTTCCTGGA	0.488000													9	19					0	0	6.40141e-05	0	0
ATG4C	84938	broad.mit.edu	37	1	63307135	63307135	+	Nonsense_Mutation	SNP	C	C	T	rs41305874		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:63307135C>T	ENST00000317868.4	+	10	1333	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R376*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	376					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						GATGTCTTTTCGAAAAATGGA	0.313000													9	51					0	0	0.000673444	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261828	21261828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:21261828G>A	ENST00000311620.5	+	2	1014	c.941G>A	c.(940-942)gGt>gAt	p.G314D		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	314										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCTGATGAGGGTGCAGCTGAT	0.502000													7	27					0	0	8.12818e-05	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933458	31933458	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:31933458G>A	ENST00000334849.2	-	1	175	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	51						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						TAGCATGATGGGTGGCAGCAG	0.468000													22	90					0	0	0.000586117	0	0
LRRN1	57633	broad.mit.edu	37	3	3887559	3887559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:3887559G>A	ENST00000319331.3	+	2	1995	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	412	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CCAGGTGAAGGAAGTTTTAAT	0.488000													13	46					0	0	0.00010058	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149726	63149726	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:63149726G>A	ENST00000279178.3	+	6	1299	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	350					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TATGTAAAAGGATCTCCCTCC	0.408000													22	119					0	0	0.000375601	0	0
DIP2A	23181	broad.mit.edu	37	21	47918558	47918558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:47918558C>T	ENST00000318711.7	+	5	650	c.467C>T	c.(466-468)cCg>cTg	p.P156L	DIP2A_ENST00000435722.3_Missense_Mutation_p.P156L|DIP2A_ENST00000466639.1_Missense_Mutation_p.P156L|DIP2A_ENST00000427143.2_Missense_Mutation_p.P92L|DIP2A_ENST00000417564.2_Missense_Mutation_p.P156L|DIP2A_ENST00000400274.1_Missense_Mutation_p.P156L|DIP2A_ENST00000457905.3_Missense_Mutation_p.P156L	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	156					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.P156Q(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACCTCCACTCCGCTCCAGAGC	0.602000													24	74					0	0	0.000375601	0	0
TMEM131	23505	broad.mit.edu	37	2	98453576	98453576	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:98453576G>A	ENST00000186436.5	-	8	996	c.768C>T	c.(766-768)ctC>ctT	p.L256L	TMEM131_ENST00000425805.2_Silent_p.L207L	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	256						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GACCCGTTGGGAGTTCTAGGT	0.438000													8	47					0	0	0.000673444	0	0
PTPRB	5787	broad.mit.edu	37	12	70946574	70946574	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:70946574C>T	ENST00000334414.6	-	21	5414	c.5370G>A	c.(5368-5370)aaG>aaA	p.K1790K	PTPRB_ENST00000550358.1_Silent_p.K1702K|PTPRB_ENST00000451516.2_Silent_p.K1482K|PTPRB_ENST00000261266.5_Silent_p.K1572K|PTPRB_ENST00000538708.1_Silent_p.K1482K|PTPRB_ENST00000550857.1_Silent_p.K1482K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1572	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGTGTGTGGCTTCAGTGGTC	0.453000													8	37					0	0	0.000442599	0	0
BRWD1	54014	broad.mit.edu	37	21	40652152	40652152	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:40652152G>C	ENST00000342449.3	-	9	932	c.854C>G	c.(853-855)tCt>tGt	p.S285C	BRWD1_ENST00000333229.2_Missense_Mutation_p.S285C|BRWD1_ENST00000380800.3_Missense_Mutation_p.S285C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GTATCTTTGAGAGCCTTTGGC	0.348000													12	29					0	0	0.000219431	0	0
PTPRT	11122	broad.mit.edu	37	20	41306544	41306544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:41306544G>A	ENST00000373198.3	-	7	1350	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	PTPRT_ENST00000373187.1_Missense_Mutation_p.P372L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P372L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P372L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P372L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P372L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P372L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	372	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			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)				AGGCCCTGGCGGTCCCGTACC	0.542000													13	37					0	0	0.000151284	0	0
GABRB3	2562	broad.mit.edu	37	15	27184496	27184496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:27184496C>T	ENST00000541819.2	-	1	190	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000400081.3_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGAAATGCCCCCGATTTCA	0.577000													6	47					0	0	0.000274275	0	0
THRB	7068	broad.mit.edu	37	3	24185081	24185081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:24185081C>T	ENST00000396671.2	-	8	997	c.649G>A	c.(649-651)Gag>Aag	p.E217K	THRB_ENST00000416420.1_Missense_Mutation_p.E217K|THRB_ENST00000356447.4_Missense_Mutation_p.E217K|THRB_ENST00000280696.5_Missense_Mutation_p.E232K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	217					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCCATTCCTCGTCTGTGGGC	0.567000													12	63					0	0	0.000151284	0	0
MEGF8	1954	broad.mit.edu	37	19	42848969	42848969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:42848969C>T	ENST00000334370.4	+	12	2716	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I	MEGF8_ENST00000251268.6_Missense_Mutation_p.T694I	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	763						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCGCCCAATACCTCCCAGCCT	0.587000													13	49					0	0	0.000219431	0	0
RANBP2	5903	broad.mit.edu	37	2	109384184	109384184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:109384184G>A	ENST00000283195.6	+	20	7315	c.7189G>A	c.(7189-7191)Ggg>Agg	p.G2397R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2397	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATATGAAAGGGACAGAAAG	0.373000													31	571					0	0	0.000692331	0	0
LGALS9	3965	broad.mit.edu	37	17	25967705	25967705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:25967705G>A	ENST00000395473.2	+	3	1707	c.239G>A	c.(238-240)gGa>gAa	p.G80E	AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.G80E|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_Missense_Mutation_p.G23E|LGALS9_ENST00000313648.6_Missense_Mutation_p.G80E|LGALS9_ENST00000302228.5_Missense_Mutation_p.G80E	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	80	Galectin 1.			NGS -> KGR (in Ref. 6; CAB93851).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		AGGCAGAACGGAAGCTGGGGG	0.542000													20	53					0	0	0.000175454	0	0
RGPD4	285190	broad.mit.edu	37	2	108488724	108488724	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:108488724G>A	ENST00000408999.3	+	20	4341	c.4264G>A	c.(4264-4266)Ggg>Agg	p.G1422R	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1422R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1422	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAATATGAAAGGGACAGAAAG	0.378000													51	224					0	0	0.000781405	0	0
KCNIP4	80333	broad.mit.edu	37	4	20852196	20852196	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:20852196C>T	ENST00000382148.3	-	2	519	c.183G>A	c.(181-183)gaG>gaA	p.E61E	KCNIP4_ENST00000382152.2_Silent_p.E86E|KCNIP4_ENST00000359001.5_Silent_p.E24E|KCNIP4_ENST00000382150.4_Silent_p.E65E|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Silent_p.E24E|KCNIP4_ENST00000447367.2_Silent_p.E52E	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	86	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GGATCTGAAGCTCTTTCTTGG	0.458000													16	58					0	0	0.000566183	0	0
DNAH11	8701	broad.mit.edu	37	7	21723495	21723495	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:21723495C>A	ENST00000328843.6	+	33	5606	c.5575C>A	c.(5575-5577)Cag>Aag	p.Q1859K	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q1852K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1859	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGATGCCCAGTTCCAGTA	0.438000									Kartagener syndrome				9	154					0.000673444	0.00875757	0.000673444	1	0
RERE	473	broad.mit.edu	37	1	8418778	8418778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:8418778G>A	ENST00000337907.3	-	21	4451	c.3817C>T	c.(3817-3819)Ccc>Tcc	p.P1273S	RERE_ENST00000476556.1_Missense_Mutation_p.P719S|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.P1273S|RERE_ENST00000377464.1_Missense_Mutation_p.P1005S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1273					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTAGAAGGGGTGGTTGCGG	0.672000													6	19					0	0	0.000157383	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066521	18066521	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:18066521G>A	ENST00000506618.2	-	1	965	c.885C>T	c.(883-885)atC>atT	p.I295I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	295					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CTTCTGCAAGGATCATGGAGA	0.398000													47	196					0	0	0.000781405	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442122	129442122	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:129442122G>A	ENST00000442111.2	+	11	901	c.813G>A	c.(811-813)agG>agA	p.R271R	GLT1D1_ENST00000537468.1_Silent_p.R276R|GLT1D1_ENST00000281703.6_Silent_p.R191R|GLT1D1_ENST00000542193.1_Silent_p.R188R			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	271					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TATTGGCCAGGAACATCCCCG	0.507000													6	27					0	0	0.000274275	0	0
ATP5F1	515	broad.mit.edu	37	1	111996858	111996858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:111996858C>T	ENST00000369722.3	+	3	709	c.103C>T	c.(103-105)Cat>Tat	p.H35Y	ATP5F1_ENST00000483994.1_Intron|ATP5F1_ENST00000369721.4_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	35					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGACCTTTCATACAGGGCA	0.423000													9	82					0	0	6.40141e-05	0	0
CPS1	1373	broad.mit.edu	37	2	211473190	211473190	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:211473190G>A	ENST00000233072.5	+	19	2494	c.2298G>A	c.(2296-2298)ctG>ctA	p.L766L	CPS1_ENST00000451903.2_Silent_p.L315L|CPS1_ENST00000430249.2_Silent_p.L772L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	766					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AACCTAGCCTGGATTACATGG	0.468000													8	34					0	0	0.000274275	0	0
TEX11	56159	broad.mit.edu	37	X	70099868	70099868	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:70099868C>T	ENST00000395889.2	-	4	329	c.174G>A	c.(172-174)agG>agA	p.R58R	TEX11_ENST00000374333.2_Silent_p.R43R|TEX11_ENST00000344304.3_Silent_p.R58R	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	58							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATAGACTCCCTGTTGATAT	0.318000													15	22					0	0	0.000219431	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923937	25923937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:25923937C>T	ENST00000377850.3	-	3	750	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SLC17A2_ENST00000360488.3_Missense_Mutation_p.E76K|SLC17A2_ENST00000265425.3_Missense_Mutation_p.E76K			O00624	NPT3_HUMAN	solute carrier family 17, member 2	76					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTATCAAATTCCTTGATGGAT	0.433000													106	146					0	0	0.000781405	0	0
HAS1	3036	broad.mit.edu	37	19	52220364	52220364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52220364G>A	ENST00000540069.2	-	3	842	c.782C>T	c.(781-783)gCt>gTt	p.A261V	HAS1_ENST00000594621.1_Missense_Mutation_p.A116V|HAS1_ENST00000601714.1_Missense_Mutation_p.A269V|HAS1_ENST00000222115.1_Missense_Mutation_p.A262V			Q92839	HAS1_HUMAN	hyaluronan synthase 1	262					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCCACCAACAGCCCCTACCCG	0.617000													6	40					0	0	0.000157383	0	0
WDR6	11180	broad.mit.edu	37	3	49051440	49051440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:49051440C>T	ENST00000395474.3	+	2	2843	c.2563C>T	c.(2563-2565)Cca>Tca	p.P855S	WDR6_ENST00000415265.2_Missense_Mutation_p.P273S|WDR6_ENST00000448293.1_Missense_Mutation_p.P774S	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	825					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCCCAGCACCCCAAGCCGCCT	0.617000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	29					0	0	3.59834e-05	0	0
NXF3	56000	broad.mit.edu	37	X	102333532	102333532	+	Silent	SNP	G	G	A	rs148623328	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:102333532G>A	ENST00000395065.3	-	17	1508	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L	NXF3_ENST00000425644.1_Silent_p.L141L|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	469	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGGTGAAGGCGAGAACAGAAC	0.542000													22	40					0	0	0.000147802	0	0
CSMD3	114788	broad.mit.edu	37	8	113323316	113323316	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:113323316G>A	ENST00000297405.5	-	50	8020	c.7776C>T	c.(7774-7776)gtC>gtT	p.V2592V	CSMD3_ENST00000343508.3_Silent_p.V2552V|CSMD3_ENST00000352409.3_Silent_p.V2522V|CSMD3_ENST00000455883.2_Silent_p.V2488V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2592	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGCCCAACGGACCACACTGT	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	47					0	0	0.000132079	0	0
TTN	7273	broad.mit.edu	37	2	179455686	179455686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179455686G>A	ENST00000589042.1	-	304	60990	c.60766C>T	c.(60766-60768)Cct>Tct	p.P20256S	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11316S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18615S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P11191S|TTN_ENST00000342992.6_Missense_Mutation_p.P17688S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11383S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18615	Ig-like 111.						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)			TCAAGGGGAGGACCAACACCT	0.453000													24	120					0	0	0.000147802	0	0
LRRTM4	80059	broad.mit.edu	37	2	76976028	76976028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:76976028C>T	ENST00000409911.1	-	3	1792	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	LRRTM4_ENST00000409884.1_Missense_Mutation_p.M522I|LRRTM4_ENST00000409093.1_Missense_Mutation_p.M522I	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	522						integral to membrane		p.M522I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCAAGGGCTTCATGTGGTGTG	0.468000													5	21					0	0	8.12818e-05	0	0
OR1L6	392390	broad.mit.edu	37	9	125512249	125512249	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:125512249G>A	ENST00000373684.1	+	1	231	c.231G>A	c.(229-231)gtG>gtA	p.V77V	OR1L6_ENST00000304720.2_Silent_p.V41V			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TCGCTGCGGTGGGGAATGTGC	0.532000													10	58					0	0	0.000673444	0	0
COL7A1	1294	broad.mit.edu	37	3	48605294	48605294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:48605294G>A	ENST00000328333.8	-	106	8013	c.7906C>T	c.(7906-7908)Ctt>Ttt	p.L2636F	COL7A1_ENST00000454817.1_Missense_Mutation_p.L2604F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2636	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCCATCAAGGCCACAGGCT	0.602000													8	36					0	0	0.000274275	0	0
CD163	9332	broad.mit.edu	37	12	7651733	7651733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:7651733C>T	ENST00000359156.4	-	4	711	c.509G>A	c.(508-510)gGa>gAa	p.G170E	CD163_ENST00000432237.2_Missense_Mutation_p.G170E|CD163_ENST00000396620.3_Missense_Mutation_p.G170E|CD163_ENST00000541972.1_Missense_Mutation_p.G158E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	170	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTCTATTCTTCCAGAACACAT	0.413000													47	212					0	0	0.000781405	0	0
KNTC1	9735	broad.mit.edu	37	12	123067339	123067339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:123067339G>A	ENST00000333479.7	+	34	3247	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1024					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAAAGCTCACGAAGTTGCACA	0.493000													4	21					0	0	0.00024832	0	0
WDR49	151790	broad.mit.edu	37	3	167248902	167248902	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:167248902C>T	ENST00000308378.3	-	9	1468		c.e9+1		WDR49_ENST00000453925.2_Splice_Site|WDR49_ENST00000476376.1_Splice_Site|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATATATTTTACCTGTCACTGC	0.358000													7	33					0	0	8.12818e-05	0	0
DLEC1	9940	broad.mit.edu	37	3	38158037	38158037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:38158037G>A	ENST00000308059.6	+	28	3971	c.3950G>A	c.(3949-3951)cGg>cAg	p.R1317Q	DLEC1_ENST00000346219.3_Missense_Mutation_p.R1317Q|DLEC1_ENST00000452631.2_Missense_Mutation_p.R1320Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1317					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCCCGCTGCGGGACCAAGCC	0.602000													8	38					0	0	0.000442599	0	0
OR1L1	26737	broad.mit.edu	37	9	125424008	125424008	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:125424008A>C	ENST00000373686.1	+	1	164	c.164A>C	c.(163-165)aAc>aCc	p.N55T				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GGAAGAAATAACCTAACAAGA	0.418000													6	49					0	0	0.000157383	0	0
TBCK	93627	broad.mit.edu	37	4	107114875	107114875	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:107114875C>T	ENST00000273980.4	-	23	2397	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	TBCK_ENST00000394708.2_Silent_p.G650G|TBCK_ENST00000394706.3_Silent_p.G611G|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Silent_p.G650G|TBCK_ENST00000361687.4_Silent_p.G587G			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	650	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AAGAGGAATTCCCAAGTAGTA	0.368000													14	21					0	0	0.000308642	0	0
ZNF586	54807	broad.mit.edu	37	19	58287975	58287975	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:58287975A>T	ENST00000391702.3	+	0	339				ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.E34V|ZNF586_ENST00000598183.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586						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)		CTTCTTAATGAGGCTCAGAGA	0.468000													25	137					0	0	0.000227799	0	0
GABRA4	2557	broad.mit.edu	37	4	46930648	46930648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:46930648G>A	ENST00000264318.3	-	9	2241	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	420					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCTTTAGAAGATTCTTGAAC	0.438000													12	59					0	0	0.000151284	0	0
AMPH	273	broad.mit.edu	37	7	38543259	38543259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:38543259C>T	ENST00000356264.2	-	3	411	c.196G>A	c.(196-198)Gca>Aca	p.A66T	AMPH_ENST00000325590.5_Missense_Mutation_p.A66T|AMPH_ENST00000428293.2_Missense_Mutation_p.A66T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	66	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTTTGATTGCTGCTAAATAT	0.388000													18	51					0	0	0.000175454	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552520	106552520	+	RNA	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:106552520G>A	ENST00000390600.2	-	0	198																											GGCTGCACAGGAGAGTCTCAG	0.562000													7	60					0	0	8.12818e-05	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668693	176668693	+	Silent	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:176668693G>T	ENST00000367662.3	+	8	4368	c.3204G>T	c.(3202-3204)gtG>gtT	p.V1068V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1068					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCCCGTGGTGGTGACACATT	0.567000													16	67					7.07596e-05	0.000943713	0.00074312	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883352	228883352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:228883352C>T	ENST00000392056.3	-	7	2264	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E740K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	740						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)		CTGATGGTCTCCTTAGAAAGG	0.478000													23	62					0	0	0.000229342	0	0
DNAH5	1767	broad.mit.edu	37	5	13762983	13762983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:13762983C>T	ENST00000265104.4	-	60	10233	c.10129G>A	c.(10129-10131)Gag>Aag	p.E3377K	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3377	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCACCTCTTCATTGATT	0.368000									Kartagener syndrome				7	47					0	0	0.000157383	0	0
GRIA1	2890	broad.mit.edu	37	5	153054092	153054092	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:153054092G>A	ENST00000285900.5	+	6	1075	c.732G>A	c.(730-732)aaG>aaA	p.K244K	GRIA1_ENST00000518783.1_Silent_p.K254K|GRIA1_ENST00000518142.1_Silent_p.K164K|GRIA1_ENST00000448073.4_Silent_p.K254K|GRIA1_ENST00000521843.2_Silent_p.K175K|GRIA1_ENST00000340592.5_Silent_p.K244K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	244					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAATTCAAGGAGAGTGGCG	0.478000													40	108					0	0	0.000781405	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747577	68747577	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:68747577C>T	ENST00000309106.3	-	1	878	c.879G>A	c.(877-879)ggG>ggA	p.G293G		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	293						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGCACAGTCCCCAGGGACC	0.672000													6	34					0	0	8.12818e-05	0	0
ZNF792	126375	broad.mit.edu	37	19	35449944	35449944	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:35449944T>C	ENST00000404801.1	-	4	1201	c.815A>G	c.(814-816)cAc>cGc	p.H272R	ZNF792_ENST00000605484.1_Missense_Mutation_p.H205R	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	272					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)			GATTCTCTGGTGCTGAACAAG	0.463000													15	53					0	0	0.000132079	0	0
PAPPA2	60676	broad.mit.edu	37	1	176563915	176563915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:176563915C>T	ENST00000367662.3	+	3	2339	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S392F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	392					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTAGACCAGTCTGGTCCCCTG	0.587000													15	29					0	0	0.000308642	0	0
COL4A5	1287	broad.mit.edu	37	X	107840644	107840644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:107840644G>A	ENST00000328300.6	+	24	1869	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G542E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	542	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCTTTCCTGGATCTAAAGGT	0.453000									Alport syndrome with Diffuse Leiomyomatosis				19	34					0	0	0.000295444	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957880	152957880	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:152957880G>A	ENST00000307122.2	+	2	238	c.174G>A	c.(172-174)caG>caA	p.Q58Q	SPRR1A_ENST00000368762.1_Silent_p.Q58Q	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	58	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCCTGCCAGCCCAAGGTTC	0.637000													7	59					0	0	0.000157383	0	0
CTSE	1510	broad.mit.edu	37	1	206331162	206331162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:206331162G>A	ENST00000360218.2	+	8	1130	c.1026G>A	c.(1024-1026)tgG>tgA	p.W342*	CTSE_ENST00000361052.3_Missense_Mutation_p.G395R|CTSE_ENST00000358184.2_Missense_Mutation_p.G390R|CTSE_ENST00000432969.2_Nonsense_Mutation_p.W267*	NM_148964.2	NP_683865.1	P14091	CATE_HUMAN	cathepsin E	0					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TAACCGTGTGGGACTGGCCCC	0.547000													19	99					0	0	0.00047179	0	0
GPR98	84059	broad.mit.edu	37	5	89990440	89990440	+	Missense_Mutation	SNP	G	G	A	rs146526977	by1000genomes	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:89990440G>A	ENST00000405460.2	+	33	7963	c.7867G>A	c.(7867-7869)Gaa>Aaa	p.E2623K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2623					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)		AGTGGCAGTCGAATGGCGTGT	0.473000													10	55					0	0	0.000442599	0	0
OR12D2	26529	broad.mit.edu	37	6	29364640	29364640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:29364640C>T	ENST00000383555.2	+	1	225	c.164C>T	c.(163-165)tCc>tTc	p.S55F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AGACTCCATTCCCTTATGTAT	0.453000													50	46					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846520	228846520	+	Silent	SNP	G	G	A	rs61752219		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:228846520G>A	ENST00000392056.3	-	12	5062	c.5016C>T	c.(5014-5016)ttC>ttT	p.F1672F	SPHKAP_ENST00000344657.5_Silent_p.F1643F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1672						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)		CAACTGCATGGAAGATATCAC	0.483000													13	42					0	0	0.000219431	0	0
CACNA1B	774	broad.mit.edu	37	9	140941904	140941904	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:140941904G>A	ENST00000277549.5	+	23	3742	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V	CACNA1B_ENST00000277551.2_Silent_p.V1199V|CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371357.1_Silent_p.V1200V|CACNA1B_ENST00000371363.1_Silent_p.V1199V|CACNA1B_ENST00000371372.1_Silent_p.V1199V|CACNA1B_ENST00000371355.4_Silent_p.V1200V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1199	Binding to the beta subunit (By similarity).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTGAGATGGTGATAAAGGTGA	0.458000													11	28					0	0	0.00010058	0	0
RIMS2	9699	broad.mit.edu	37	8	105260938	105260938	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:105260938C>T	ENST00000507740.1	+	19	3164	c.2928C>T	c.(2926-2928)ttC>ttT	p.F976F	RIMS2_ENST00000406091.3_Silent_p.F1162F|RIMS2_ENST00000436393.2_Silent_p.F1180F|RIMS2_ENST00000339750.2_Silent_p.F98F|RIMS2_ENST00000262231.10_Silent_p.F1001F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1224					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTGATTTTCCCTGGTGTTC	0.463000										HNSCC(12;0.0054)			18	60					0	0	0.000958276	0	0
OR51V1	283111	broad.mit.edu	37	11	5221254	5221254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5221254G>A	ENST00000321255.1	-	1	676	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGTAGGAGAAAAGGAT	0.448000													7	42					0	0	0.000157383	0	0
SOS2	6655	broad.mit.edu	37	14	50623718	50623718	+	Splice_Site	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:50623718T>C	ENST00000216373.5	-	12	2330	c.2057_splice	c.e12+1	p.R686_splice	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Splice_Site_p.R653_splice	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	686	N-terminal Ras-GEF.				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)					AAGCCAAACCTAAGTTGTACT	0.333000													4	2					0	0	0.00024832	0	0
NLRP4	147945	broad.mit.edu	37	19	56369223	56369223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56369223G>A	ENST00000301295.6	+	3	886	c.464G>A	c.(463-465)gGa>gAa	p.G155E	NLRP4_ENST00000587891.1_Missense_Mutation_p.G80E|NLRP4_ENST00000346986.5_Missense_Mutation_p.G155E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	155	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCATTCAAGGACCACAAGGA	0.468000													31	80					0	0	0.000409698	0	0
TNR	7143	broad.mit.edu	37	1	175355287	175355287	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:175355287T>G	ENST00000367674.1	-	8	2366	c.1658A>C	c.(1657-1659)cAg>cCg	p.Q553P	TNR_ENST00000263525.2_Missense_Mutation_p.Q553P	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	553	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGGGGAGGCTGCAGCCGGAA	0.602000													4	27					0	0	0.000602214	0	0
EDEM1	9695	broad.mit.edu	37	3	5252853	5252853	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:5252853C>T	ENST00000256497.4	+	10	1765	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	EDEM1_ENST00000445686.1_Silent_p.D349D	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	544					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCACAGAAGACCGGATGGAGA	0.463000													7	44					0	0	0.000442599	0	0
ZNF578	147660	broad.mit.edu	37	19	53007926	53007926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:53007926G>A	ENST00000421239.2	+	5	326	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GACTTTCAGGGATGTGGCTAT	0.418000													28	160					0	0	0.000339439	0	0
SBNO2	22904	broad.mit.edu	37	19	1127675	1127675	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:1127675G>A	ENST00000361757.3	-	5	606	c.369C>T	c.(367-369)ttC>ttT	p.F123F	SBNO2_ENST00000587024.1_Silent_p.F123F|SBNO2_ENST00000438103.2_Silent_p.F66F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	123					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGGCAGGAAGTCGGGCG	0.607000													11	39					0	0	6.40141e-05	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111966002	111966002	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:111966002C>G	ENST00000374566.3	-	19	2404	c.1887G>C	c.(1885-1887)aaG>aaC	p.K629N		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	629						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGATTCCTCCTTTCCACCCT	0.363000													12	56					0	0	0.000308642	0	0
CLCNKB	1188	broad.mit.edu	37	1	16374459	16374459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:16374459G>A	ENST00000375679.4	+	5	529	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTACCTGGATATCAAGAA	0.617000													9	55					0	0	6.40141e-05	0	0
ZNF365	22891	broad.mit.edu	37	10	64136580	64136580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:64136580G>A	ENST00000395254.3	+	2	908	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.E210K|ZNF365_ENST00000395255.3_Missense_Mutation_p.E210K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAAAAAGCAGGAAGTTCAGAG	0.507000													21	96					0	0	0.000375601	0	0
IL31RA	133396	broad.mit.edu	37	5	55147444	55147444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:55147444G>A	ENST00000447346.2	+	1	111	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IL31RA_ENST00000359040.5_Missense_Mutation_p.E16K|IL31RA_ENST00000396834.1_5'UTR|IL31RA_ENST00000396836.2_Missense_Mutation_p.E16K	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	0					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				atgtgtctgtgaatgtccgca	0.433000													35	127					0	0	0.000191422	0	0
CD48	962	broad.mit.edu	37	1	160654704	160654704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:160654704C>T	ENST00000368045.3	-	2	397	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CD48_ENST00000368046.3_Missense_Mutation_p.E120K			P09326	CD48_HUMAN	CD48 molecule	120	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCTTCCATTCTTGCTCATTC	0.517000													25	119					0	0	0.000339439	0	0
PTPN3	5774	broad.mit.edu	37	9	112172549	112172549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:112172549C>T	ENST00000412145.1	-	10	3620	c.1067G>A	c.(1066-1068)gGg>gAg	p.G356E	PTPN3_ENST00000446349.1_Missense_Mutation_p.G311E|PTPN3_ENST00000262539.3_Missense_Mutation_p.G333E|PTPN3_ENST00000374541.2_Missense_Mutation_p.G487E|PTPN3_ENST00000394827.3_5'UTR	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	487					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTGGAGCCCCCTTTGGTCAC	0.597000													15	67					0	0	0.000132079	0	0
C2orf71	388939	broad.mit.edu	37	2	29294356	29294356	+	Silent	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:29294356C>A	ENST00000331664.5	-	1	2771	c.2772G>T	c.(2770-2772)ctG>ctT	p.L924L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	924					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGGCTGCTCAGGTCCAGGG	0.672000													5	20					0.000602214	0.00788044	0.000602214	1	0
MTCH2	23788	broad.mit.edu	37	11	47640455	47640455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:47640455C>T	ENST00000302503.3	-	13	999	c.842G>A	c.(841-843)gGa>gAa	p.G281E	MTCH2_ENST00000542981.1_Missense_Mutation_p.G133E|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	281					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TAAGCTATTTCCTCGGCTCAT	0.413000													22	125					0	0	0.000586117	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878954	48878954	+	Missense_Mutation	SNP	G	G	A	rs147504195		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:48878954G>A	ENST00000344846.2	+	4	666	c.416G>A	c.(415-417)gGg>gAg	p.G139E	SYNGR4_ENST00000595322.1_Intron|SYNGR4_ENST00000601610.1_Missense_Mutation_p.G90E	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	139	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TTCCTCCTGGGGAGCAGCAGT	0.612000													11	49					0	0	0.000673444	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936279	4936279	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:4936279C>T	ENST00000424747.1	-	5	2032	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	SLC52A1_ENST00000254853.5_Silent_p.K440K|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	440						integral to plasma membrane	receptor activity|riboflavin transporter activity	p.K440N(1)									CTACACAGTCCTTTCTGCTTT	0.607000													6	24					0	0	0.000157383	0	0
DLEC1	9940	broad.mit.edu	37	3	38158038	38158038	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:38158038G>A	ENST00000308059.6	+	28	3972	c.3951G>A	c.(3949-3951)cgG>cgA	p.R1317R	DLEC1_ENST00000346219.3_Silent_p.R1317R|DLEC1_ENST00000452631.2_Silent_p.R1320R			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1317					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCCCGCTGCGGGACCAAGCCG	0.597000													8	40					0	0	0.000442599	0	0
CDK18	5129	broad.mit.edu	37	1	205500479	205500479	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:205500479G>A	ENST00000360066.2	+	16	1699	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.G496G|CDK18_ENST00000429964.2_Silent_p.G466G	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	464							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGGACGAGGGAAGAACAGGC	0.617000													6	33					0	0	8.12818e-05	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189746	50189746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:50189746G>A	ENST00000335999.6	-	8	2098	c.1897C>T	c.(1897-1899)Ccc>Tcc	p.P633S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	629										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTGCGGCCGGGATGGGGAGAC	0.647000													4	5					0	0	0.00024832	0	0
MLF1	4291	broad.mit.edu	37	3	158310307	158310307	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:158310307C>T	ENST00000359117.5	+	2	293	c.57C>T	c.(55-57)atC>atT	p.I19I	MLF1_ENST00000471745.1_Silent_p.I19I|MLF1_ENST00000469452.1_Silent_p.I19I|MLF1_ENST00000392822.3_Silent_p.I60I|MLF1_ENST00000355893.5_Silent_p.I44I|MLF1_ENST00000478894.2_Silent_p.I19I|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000482628.1_Silent_p.I19I|MLF1_ENST00000484955.1_Silent_p.I19I	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	44					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGCTCAGTATCTCTGATGGTA	0.388000			T	NPM1	AML								9	49					0	0	0.000274275	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290697	15290697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:15290697G>A	ENST00000378116.4	-	5	701	c.695C>T	c.(694-696)aCg>aTg	p.T232M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	232						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGCTCTGCGTGGCCAGGGG	0.602000													12	55					0	0	0.000308642	0	0
CYP2J2	1573	broad.mit.edu	37	1	60373474	60373474	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:60373474G>A	ENST00000371204.3	-	6	1030	c.987C>T	c.(985-987)ctC>ctT	p.L329L	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	329					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TTTCTGGGTAGAGGGCCATAT	0.527000													13	40					0	0	0.000308642	0	0
OR4C13	283092	broad.mit.edu	37	11	49974865	49974865	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:49974865G>A	ENST00000555099.1	+	1	923	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATGCCATTAGGAAATTGTGTA	0.373000													7	33					0	0	8.12818e-05	0	0
ZNF613	79898	broad.mit.edu	37	19	52448381	52448381	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:52448381C>T	ENST00000293471.6	+	6	1924	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Silent_p.L379L	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGGGCAACCTCCTTATTCATC	0.408000													16	26					0	0	0.000422831	0	0
OR8H2	390151	broad.mit.edu	37	11	55873147	55873147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:55873147C>T	ENST00000313503.1	+	1	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGATGGTGTCCCTTTTCACA	0.398000										HNSCC(53;0.14)			24	83					0	0	0.000586117	0	0
STAB1	23166	broad.mit.edu	37	3	52548813	52548813	+	Missense_Mutation	SNP	C	C	A	rs142311027		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:52548813C>A	ENST00000321725.6	+	35	3851	c.3775C>A	c.(3775-3777)Cgc>Agc	p.R1259S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1259					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCTCAAGTCGCTGCCTGCA	0.677000													10	19					1.08611e-07	1.4673e-06	6.40141e-05	1	0
MROH2B	133558	broad.mit.edu	37	5	41039656	41039656	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:41039656C>T	ENST00000399564.4	-	20	2405	c.1953_splice	c.e20-1	p.G652_splice	MROH2B_ENST00000506092.2_Splice_Site_p.G207_splice	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATGTTATTCCCTAAAATCA	0.308000													5	27					0	0	0.000602214	0	0
LRRC7	57554	broad.mit.edu	37	1	70518723	70518723	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:70518723A>C	ENST00000310961.5	+	23	4303	c.3885A>C	c.(3883-3885)caA>caC	p.Q1295H	LRRC7_ENST00000415775.2_Missense_Mutation_p.Q621H|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q1337H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1337						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGTCCCAGCAAAGCAACATTT	0.423000													7	53					0	0	0.000157383	0	0
FCHSD2	9873	broad.mit.edu	37	11	72552619	72552619	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:72552619A>G	ENST00000409314.1	-	19	2176	c.2008T>C	c.(2008-2010)Tcc>Ccc	p.S670P	FCHSD2_ENST00000311172.7_Missense_Mutation_p.S590P|FCHSD2_ENST00000409263.1_Missense_Mutation_p.S7P|FCHSD2_ENST00000409418.4_Missense_Mutation_p.S646P|FCHSD2_ENST00000458644.2_Missense_Mutation_p.S510P|ATG16L2_ENST00000534905.1_Intron			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	646							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GGCTTGGGGGAAGGAGAGATC	0.607000													36	113					0	0	0.000319135	0	0
LST3	0	broad.mit.edu	37	12	21196426	21196426	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:21196426T>G	ENST00000381541.3	+	7	951	c.886T>G	c.(886-888)Ttg>Gtg	p.L296V	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.L249V|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.L296V|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron																							TTCACTATTTTTGCATGTGCT	0.299000													9	26					0	0	0.000442599	0	0
LOXL2	4017	broad.mit.edu	37	8	23225580	23225580	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:23225580G>A	ENST00000389131.3	-	2	654	c.285C>T	c.(283-285)gtC>gtT	p.V95V		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	95	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCCGGCAGACGACGTGGGCAG	0.622000													5	26					0	0	8.12818e-05	0	0
PDP2	57546	broad.mit.edu	37	16	66918893	66918893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:66918893C>T	ENST00000311765.2	+	2	1040	c.706C>T	c.(706-708)Cag>Tag	p.Q236*	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	236					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTACTCCTTCCAGAGACTGGA	0.498000													8	36					0	0	0.000274275	0	0
CHD1	1105	broad.mit.edu	37	5	98235231	98235231	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:98235231C>A	ENST00000284049.3	-	7	1187	c.1038G>T	c.(1036-1038)atG>atT	p.M346I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	346	Chromo 1.				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)	CCAATTTTTTCATTCCTCTAA	0.323000													38	75					9.73076e-26	1.32317e-24	0.000270559	1	0
BOLL	66037	broad.mit.edu	37	2	198646462	198646462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:198646462C>T	ENST00000321801.7	-	2	719	c.149G>A	c.(148-150)gGa>gAa	p.G50E	BOLL_ENST00000392296.4_Missense_Mutation_p.G38E|BOLL_ENST00000433157.1_Missense_Mutation_p.G38E|BOLL_ENST00000430004.1_Missense_Mutation_p.G38E|BOLL_ENST00000282278.8_5'UTR	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	38	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	p.G38A(1)|p.G50A(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ATCAATTCCTCCTACAAAGAT	0.358000													26	93					0	0	0.000147802	0	0
CARF	79800	broad.mit.edu	37	2	203846876	203846876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:203846876C>T	ENST00000320443.8	+	15	2814	c.1771C>T	c.(1771-1773)Cct>Tct	p.P591S	CARF_ENST00000438828.2_Missense_Mutation_p.P591S|CARF_ENST00000414439.1_Missense_Mutation_p.P489S|CARF_ENST00000545253.1_Missense_Mutation_p.P503S|CARF_ENST00000545262.1_Missense_Mutation_p.P515S|CARF_ENST00000402905.2_Missense_Mutation_p.P591S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Missense_Mutation_p.P515S					calcium responsive transcription factor																		GTCCTCTAGTCCTTCAGGACT	0.408000													113	351					0	0	0.000781405	0	0
CARD16	114769	broad.mit.edu	37	11	104915239	104915239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:104915239C>T	ENST00000375706.2	-	2	171	c.154G>A	c.(154-156)Gat>Aat	p.D52N	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.D52N|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.D52N	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGGTCTTATCCATAACTGTA	0.418000													30	114					0	0	0.00058488	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911876	158911876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:158911876C>T	ENST00000368140.1	+	5	934	c.689C>T	c.(688-690)tCc>tTc	p.S230F	PYHIN1_ENST00000368138.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S221F|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S230F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	230	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AAATATGAATCCTCAGAAAAT	0.383000													14	49					0	0	0.000151284	0	0
ZNF257	113835	broad.mit.edu	37	19	22271151	22271151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:22271151C>T	ENST00000594947.1	+	4	743	c.599C>T	c.(598-600)tCc>tTc	p.S200F	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAGAGAATTCCCACAAATGT	0.373000													12	59					0	0	0.000308642	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138177	126138177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:126138177C>T	ENST00000299308.3	+	9	2166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P232S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	720						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATTTACGATCCTAAGGATTA	0.403000													27	112					0	0	0.000720815	0	0
SGK2	10110	broad.mit.edu	37	20	42199276	42199276	+	Missense_Mutation	SNP	G	G	A	rs35187177		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:42199276G>A	ENST00000373100.1	+	8	840	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SGK2_ENST00000341458.4_Missense_Mutation_p.R187Q|SGK2_ENST00000423407.3_Missense_Mutation_p.R127Q|SGK2_ENST00000373077.1_Missense_Mutation_p.R126Q|SGK2_ENST00000426287.1_Missense_Mutation_p.R153Q|SGK2_ENST00000373092.3_Missense_Mutation_p.R127Q|SGK2_ENST00000485914.1_3'UTR			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	187	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACCTGCAGCGGGAGCGCCGG	0.642000													12	36					0	0	0.00010058	0	0
SEPP1	6414	broad.mit.edu	37	5	42804833	42804833	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:42804833G>A	ENST00000514985.1	-	4	715	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SEPP1_ENST00000506577.1_Silent_p.F153F|SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000511224.1_Silent_p.F153F	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	153					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GGAAAGTTAGGAAGGAAAAAG	0.353000													10	44					0	0	6.40141e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9059806	9059806	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:9059806T>C	ENST00000397910.4	-	3	27843	c.27640A>G	c.(27640-27642)Act>Gct	p.T9214A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9216	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						GTGACTTCAGTGATGGCCAGT	0.488000													17	59					0	0	0.000229342	0	0
PBX1	5087	broad.mit.edu	37	1	164761831	164761831	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:164761831G>A	ENST00000420696.2	+	3	554	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PBX1_ENST00000401534.1_Silent_p.K122K|PBX1_ENST00000560641.1_Silent_p.K17K|PBX1_ENST00000540246.1_Silent_p.K17K|PBX1_ENST00000540236.1_Silent_p.K122K|PBX1_ENST00000367897.1_Silent_p.K122K|PBX1_ENST00000559240.1_Silent_p.K122K	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	122					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GGCCTGAGAAGGGCGGAGGGT	0.632000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								10	29					0	0	6.40141e-05	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988817	154988817	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:154988817G>C	ENST00000368426.3	+	4	1413	c.1276G>C	c.(1276-1278)Ggg>Cgg	p.G426R	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G426R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G460R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G426R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	426					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGCACACAGGGGACCGGCC	0.642000													13	22					0	0	0.000151284	0	0
TRHR	7201	broad.mit.edu	37	8	110100269	110100269	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:110100269G>A	ENST00000518632.1	+	2	879	c.528G>A	c.(526-528)gtG>gtA	p.V176V	TRHR_ENST00000311762.2_Silent_p.V176V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	176						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATGCTATTGTGATATCCTGTG	0.403000													12	59					0	0	0.000151284	0	0
TOR1A	1861	broad.mit.edu	37	9	132584974	132584974	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:132584974G>A	ENST00000351698.4	-	2	378	c.330C>T	c.(328-330)ttC>ttT	p.F110F	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	110					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCTTGCTGACGAAATTTTTGC	0.468000													32	125					0	0	0.000319135	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499220	34499220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:34499220C>T	ENST00000454519.3	-	7	640	c.491G>A	c.(490-492)gGa>gAa	p.G164E	TBC1D3B_ENST00000398801.3_Missense_Mutation_p.G164E|CTB-91J4.1_ENST00000592460.1_RNA	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTACTTGGTTCCGTATCGATC	0.572000													29	274					0	0	0.000781405	0	0
GLI2	2736	broad.mit.edu	37	2	121748185	121748185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:121748185C>T	ENST00000314490.11	+	14	3494	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L	GLI2_ENST00000452319.1_Silent_p.V1565V|GLI2_ENST00000361492.4_Silent_p.V1565V			P10070	GLI2_HUMAN	GLI family zinc finger 2	0	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGGCTGTCGGGGACATGA	0.642000													9	53					0	0	0.000274275	0	0
DNAH12	201625	broad.mit.edu	37	3	57494241	57494241	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:57494241T>G	ENST00000351747.2	-	7	749	c.569A>C	c.(568-570)cAt>cCt	p.H190P	DNAH12_ENST00000311202.6_Missense_Mutation_p.H190P|DNAH12_ENST00000389536.4_Missense_Mutation_p.H190P	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	190	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATAGCTAGAATGCCAAGGATT	0.328000													10	31					0	0	6.40141e-05	0	0
GALT	2592	broad.mit.edu	37	9	34647856	34647856	+	Silent	SNP	G	G	A	rs141232328		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:34647856G>A	ENST00000378842.3	+	5	447	c.405G>A	c.(403-405)tcG>tcA	p.S135S	GALT_ENST00000450095.2_Silent_p.S26S|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	135			S -> L (in GALCT; frequent mutation in African Americans; about 5% of normal activity).|S -> W (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACCCCTGGTCGGATGTAACGC	0.597000									Galactosemia				15	62					0	0	0.000219431	0	0
NCF4	4689	broad.mit.edu	37	22	37271803	37271803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:37271803G>A	ENST00000397147.4	+	8	920	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	NCF4_ENST00000248899.6_Missense_Mutation_p.E246K	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	246					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTACTACTACGAAGACACCAT	0.597000													24	85					0	0	0.000375601	0	0
HACE1	57531	broad.mit.edu	37	6	105178179	105178179	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:105178179A>G	ENST00000262903.4	-	23	2902	c.2627_splice	c.e23+1	p.C876_splice	HACE1_ENST00000369125.2_Splice_Site_p.C661_splice|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	876	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCAACATACCATGTGCTTGAA	0.368000													10	32					0	0	0.000442599	0	0
SPIN1	10927	broad.mit.edu	37	9	91077651	91077651	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:91077651C>T	ENST00000375859.3	+	4	620	c.342C>T	c.(340-342)ctC>ctT	p.L114L	SPIN1_ENST00000541629.1_Silent_p.L114L|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	114					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TTGAAGTCCTCCCTGATAGAG	0.284000													13	80					0	0	0.000422831	0	0
TRIT1	54802	broad.mit.edu	37	1	40310205	40310205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:40310205G>A	ENST00000316891.5	-	9	1128	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	TRIT1_ENST00000372818.1_Nonsense_Mutation_p.Q346*|TRIT1_ENST00000441669.2_Nonsense_Mutation_p.Q290*|TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000537440.1_Nonsense_Mutation_p.Q68*|TRIT1_ENST00000537223.1_Nonsense_Mutation_p.Q68*|TRIT1_ENST00000545233.1_Nonsense_Mutation_p.Q126*|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	372					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATAATTACCTGGATGAAACTT	0.413000													8	27					0	0	0.000442599	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256299	15256299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:15256299C>T	ENST00000378116.4	-	8	1294	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	430						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GAGAGGAGCTCCTCCCGGGAG	0.542000													13	31					0	0	0.00010058	0	0
C1orf194	127003	broad.mit.edu	37	1	109649634	109649634	+	Silent	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:109649634G>T	ENST00000369949.4	-	3	452	c.273C>A	c.(271-273)acC>acA	p.T91T	C1orf194_ENST00000369948.3_Silent_p.T103T|C1orf194_ENST00000369945.3_Silent_p.T64T	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	103										large_intestine(2)|lung(2)|ovary(2)	6						CTTACCTATAGGTATCCTGCG	0.448000													6	77					8.12818e-05	0.00107488	8.12818e-05	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072012	17072012	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:17072012G>A	ENST00000359963.3	-	1	1688	c.1429C>T	c.(1429-1431)Cta>Tta	p.L477L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	477					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACACCCATTAGGAGGTTCCCA	0.512000													21	96					0	0	0.000229342	0	0
EPHX3	79852	broad.mit.edu	37	19	15338647	15338647	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:15338647G>A	ENST00000221730.3	-	6	1012	c.792C>T	c.(790-792)ttC>ttT	p.F264F	EPHX3_ENST00000602233.1_Silent_p.F264F|EPHX3_ENST00000435261.1_Silent_p.F264F	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	264						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AGTTATAAAGGAAGGCCTCGA	0.552000													4	23					0	0	0.000157383	0	0
ZNF99	7652	broad.mit.edu	37	19	22939400	22939400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:22939400G>A	ENST00000397104.3	-	7	2770	c.2771C>T	c.(2770-2772)gCt>gTt	p.A924V						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368000													15	58					0	0	0.000422831	0	0
ZNF782	158431	broad.mit.edu	37	9	99589443	99589443	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:99589443C>T	ENST00000481138.1	-	5	824	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AAGATCAGTTCTGGTTTTGTA	0.383000													9	32					0	0	0.000442599	0	0
PARP15	165631	broad.mit.edu	37	3	122335876	122335876	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:122335876G>T	ENST00000464300.2	+	6	931	c.865G>T	c.(865-867)Gtc>Ttc	p.V289F	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.V55F|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000310366.4_Missense_Mutation_p.V55F	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	267	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGTCGGGACTGTCTCTAAGCC	0.443000													23	87					3.73988e-18	5.0744e-17	0.000147802	1	0
TRANK1	9881	broad.mit.edu	37	3	36898977	36898977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:36898977C>T	ENST00000301807.6	-	12	2351	c.454G>A	c.(454-456)Gat>Aat	p.D152N	TRANK1_ENST00000429976.2_Missense_Mutation_p.D702N|TRANK1_ENST00000428977.2_Missense_Mutation_p.D152N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	702					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAGACGGATCCACTTCAACC	0.552000													7	18					0	0	8.12818e-05	0	0
TRAV17	28666	broad.mit.edu	37	14	22465902	22465902	+	RNA	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:22465902T>C	ENST00000390445.2	+	0	125																											TCAGGTCTTCTGTGATTTCAA	0.473000													9	23					0	0	6.40141e-05	0	0
TRIM51	84767	broad.mit.edu	37	11	55653186	55653186	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:55653186G>A	ENST00000449290.2	+	2	374	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	94						intracellular	zinc ion binding										AAATATGTGGGATGCACAGAG	0.478000													5	22					0	0	0.000602214	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475592	140475592	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:140475592G>A	ENST00000194155.4	+	1	1366	c.1218G>A	c.(1216-1218)gtG>gtA	p.V406V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		406	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACTCTGGTGATAAGCACGG	0.502000													14	36					0	0	0.000422831	0	0
MC4R	4160	broad.mit.edu	37	18	58038851	58038851	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:58038851C>T	ENST00000299766.3	-	1	1150	c.732G>A	c.(730-732)gcG>gcA	p.A244A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	244					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCAAGGTAATCGCTCCCTTCA	0.498000													11	32					0	0	0.000673444	0	0
TFDP2	7029	broad.mit.edu	37	3	141671371	141671371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:141671371G>A	ENST00000499676.2	-	13	1816	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	TFDP2_ENST00000489671.1_Missense_Mutation_p.S442F|TFDP2_ENST00000495310.1_Missense_Mutation_p.S345F|TFDP2_ENST00000397991.4_Missense_Mutation_p.S414F|TFDP2_ENST00000486111.1_Missense_Mutation_p.S382F|TFDP2_ENST00000310282.6_Missense_Mutation_p.S382F|TFDP2_ENST00000479040.1_Missense_Mutation_p.S381F|TFDP2_ENST00000477292.1_Missense_Mutation_p.S306F|TFDP2_ENST00000317104.7_Missense_Mutation_p.S366F|TFDP2_ENST00000467072.1_Missense_Mutation_p.S382F	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	442					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TGGGGAGGAGGAATCCTCCTC	0.483000													20	97					0	0	0.00047179	0	0
PCDH15	65217	broad.mit.edu	37	10	55582009	55582009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:55582009G>A	ENST00000361849.3	-	34	5877	c.5483C>T	c.(5482-5484)cCt>cTt	p.P1828L	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1823L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1786L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1803L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1757L|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1826L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_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	1826	Poly-Pro.				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	p.P1826L(1)		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)				tggagggcaaggaatagaagg	0.478000										HNSCC(58;0.16)			8	26					0	0	0.000274275	0	0
ZNF347	84671	broad.mit.edu	37	19	53644064	53644064	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:53644064T>C	ENST00000452676.2	-	5	2446	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	673					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)		GTATGAACTCTCCGATGTCTT	0.428000													4	107					0	0	0.000602214	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113660519	113660519	+	RNA	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:113660519G>A	ENST00000393544.2	+	0	567																											CCCCGATGAGGAGCTGCGCCA	0.587000													4	8					0	0	0.00024832	0	0
KPNA5	3841	broad.mit.edu	37	6	117047683	117047683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:117047683C>T	ENST00000368564.1	+	12	1299	c.1151C>T	c.(1150-1152)cCt>cTt	p.P384L	KPNA5_ENST00000356348.1_Missense_Mutation_p.P384L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	381	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AATATTTTTCCTGTTTTGATT	0.338000													22	97					0	0	0.000586117	0	0
OR51I2	390064	broad.mit.edu	37	11	5475407	5475407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5475407C>T	ENST00000341449.2	+	1	770	c.689C>T	c.(688-690)tCc>tTc	p.S230F	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACTGCTTCCCGTGAGGAA	0.478000													23	88					0	0	0.000295444	0	0
MAOB	4129	broad.mit.edu	37	X	43656391	43656391	+	Missense_Mutation	SNP	G	G	A	rs12850496		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:43656391G>A	ENST00000378069.4	-	6	746	c.599C>T	c.(598-600)tCg>tTg	p.S200L	MAOB_ENST00000536181.1_Missense_Mutation_p.S184L|MAOB_ENST00000538942.1_Missense_Mutation_p.S184L	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	200					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	ATTTGTTGTCGAGATGATTCT	0.463000													14	23					0	0	0.000566183	0	0
EIF2S1	1965	broad.mit.edu	37	14	67831653	67831653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:67831653C>T	ENST00000256383.4	+	2	630	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	EIF2S1_ENST00000466499.2_Missense_Mutation_p.R57C	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	57	S1 motif.					cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		AAGGCGTATCCGTTCTATCAA	0.393000													19	82					0	0	0.000295444	0	0
MMP26	56547	broad.mit.edu	37	11	5012687	5012687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5012687C>T	ENST00000380390.1	+	5	772	c.556C>T	c.(556-558)Cat>Tat	p.H186Y	MMP26_ENST00000300762.1_Missense_Mutation_p.H186Y			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	186					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGAGTTGTCCATTTTGACAA	0.483000													17	105					0	0	0.000422831	0	0
MYH1	4619	broad.mit.edu	37	17	10404730	10404730	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:10404730C>T	ENST00000226207.5	-	27	3529	c.3435G>A	c.(3433-3435)cgG>cgA	p.R1145R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1145						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCCAGCTCCCGGGAGAGAT	0.607000													19	55					0	0	0.000132079	0	0
MIR519D	574480	broad.mit.edu	37	19	54216624	54216624	+	RNA	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:54216624G>A	ENST00000385246.1	+	0	24					NR_030202.1																						CCCTCCAAAGGGAAGCGCTTT	0.428000													9	89					0	0	0.000442599	0	0
PEG3	5178	broad.mit.edu	37	19	57327997	57327997	+	Missense_Mutation	SNP	C	C	T	rs55885735	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:57327997C>T	ENST00000326441.9	-	10	2176	c.1813G>A	c.(1813-1815)Ggg>Agg	p.G605R	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G479R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G605R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G481R	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	605					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGGTTTCCCCGCGCtcacgt	0.458000													11	10					0	0	6.40141e-05	0	0
APC	324	broad.mit.edu	37	5	112176863	112176863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:112176863C>T	ENST00000457016.1	+	16	5952	c.5572C>T	c.(5572-5574)Cga>Tga	p.R1858*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1858*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1858*			P25054	APC_HUMAN	adenomatous polyposis coli	1858	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTGTTTTTCACGAAATGATTC	0.358000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			10	26					0	0	0.000442599	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323046	61323046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:61323046C>T	ENST00000283752.5	-	8	1161	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	SERPINB3_ENST00000332821.8_Missense_Mutation_p.G288R|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	340					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTCTGCTCCCTCCTCTGTA	0.507000													10	57					0	0	0.000673444	0	0
COL12A1	1303	broad.mit.edu	37	6	75823424	75823424	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:75823424C>T	ENST00000322507.8	-	50	8043	c.7734G>A	c.(7732-7734)acG>acA	p.T2578T	COL12A1_ENST00000416123.2_Silent_p.T2578T|COL12A1_ENST00000483888.2_Silent_p.T2578T|COL12A1_ENST00000345356.6_Silent_p.T1414T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2578	Nonhelical region (NC3).|TSP N-terminal.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATAATATAATCGTGTATGAAG	0.383000													13	27					0	0	0.000308642	0	0
CFB	629	broad.mit.edu	37	6	31917271	31917271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:31917271G>T	ENST00000556679.1	+	22	2906	c.2851G>T	c.(2851-2853)Gag>Tag	p.E951*	CFB_ENST00000456570.1_Nonsense_Mutation_p.E951*|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Nonsense_Mutation_p.E800*|CFB_ENST00000425368.2_Nonsense_Mutation_p.E449*			P00751	CFAB_HUMAN	complement factor B	449					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAAGACAATGAGCAACATGT	0.428000													12	633					0.000422831	0.00554468	0.000422831	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803137	185803137	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:185803137T>G	ENST00000302277.6	+	4	3608	c.3014T>G	c.(3013-3015)tTa>tGa	p.L1005*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1005						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAACCACCATTACCATTCAAA	0.433000													21	73					0	0	0.00047179	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407969	26407969	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:26407969C>T	ENST00000289361.6	+	4	872	c.504C>T	c.(502-504)tcC>tcT	p.S168S	BTN3A1_ENST00000425234.2_Silent_p.S168S|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Silent_p.S168S	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	168	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGTGCAGGTCCACTGGCTGGT	0.522000													11	74					0	0	6.40141e-05	0	0
XIRP2	129446	broad.mit.edu	37	2	168107012	168107012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:168107012C>T	ENST00000409195.1	+	9	9199	c.9110C>T	c.(9109-9111)tCc>tTc	p.S3037F	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3037F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2815F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2862					actin cytoskeleton organization	cell junction	actin binding	p.S3037Y(1)		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						ATGATGTCCTCCAAAACAGGA	0.318000													17	53					0	0	0.000175454	0	0
NRXN3	9369	broad.mit.edu	37	14	79181466	79181466	+	Silent	SNP	A	A	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:79181466A>G	ENST00000554719.1	+	5	1400	c.909A>G	c.(907-909)ggA>ggG	p.G303G	NRXN3_ENST00000335750.5_Silent_p.G303G	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GATACTGGGGAAGAACCTGCG	0.592000													5	28					0	0	3.59834e-05	0	0
TCL6	27004	broad.mit.edu	37	14	96129885	96129885	+	RNA	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:96129885C>T	ENST00000467865.1	+	0	293				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tgtttTCATGCTATCTCAGTT	0.542000			T	TRA@	T-ALL								7	33					0	0	0.000274275	0	0
GRID1	2894	broad.mit.edu	37	10	87487683	87487683	+	Missense_Mutation	SNP	G	G	T	rs145118691		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:87487683G>T	ENST00000327946.7	-	10	1547	c.1462C>A	c.(1462-1464)Cct>Act	p.P488T	GRID1_ENST00000536331.1_Missense_Mutation_p.P59T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	488						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGCCATCAGGGGCTTGGTAA	0.547000										Multiple Myeloma(13;0.14)			8	88					0.000274275	0.00360418	0.000274275	1	0
TP53	7157	broad.mit.edu	37	17	7574004	7574004	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:7574004G>A	ENST00000269305.4	-	10	1212	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Silent_p.F341F|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	341	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		F -> C (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.R342fs*3(5)|p.I332fs*5(1)|p.R342*(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCAGCTCTCGGAACATCTCGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	22					0	0	8.12818e-05	0	0
ACOX3	8310	broad.mit.edu	37	4	8383294	8383294	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:8383294G>A	ENST00000356406.5	-	14	1655	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	ACOX3_ENST00000413009.2_Silent_p.L526L|ACOX3_ENST00000503233.1_Silent_p.L526L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	526					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGTCTCTCGGAGCAGGTAGC	0.408000													19	68					0	0	0.000132079	0	0
IL17A	3605	broad.mit.edu	37	6	52053993	52053993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:52053993G>A	ENST00000340057.1	+	3	416	c.371G>A	c.(370-372)aGg>aAg	p.R124K		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	124					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GTCCTGCGCAGGGAGCCTCCA	0.597000													14	31					0	0	0.00074312	0	0
CLPB	81570	broad.mit.edu	37	11	72012993	72012993	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:72012993C>A	ENST00000294053.3	-	12	1446	c.1273G>T	c.(1273-1275)Ggg>Tgg	p.G425W	CLPB_ENST00000340729.5_Missense_Mutation_p.G366W|CLPB_ENST00000437826.2_Missense_Mutation_p.G380W|CLPB_ENST00000538021.1_Missense_Mutation_p.G33W|CLPB_ENST00000543042.1_Missense_Mutation_p.G224W|CLPB_ENST00000538039.1_Missense_Mutation_p.G395W	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	425					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGTGGAGACCCAATAAACTTG	0.498000													8	249					0.000673444	0.00875757	0.000673444	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17696505	17696505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:17696505C>T	ENST00000399080.2	-	1	3201	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGGAACTTCCTGTTCTCCA	0.348000													10	26					0	0	0.000442599	0	0
APCDD1L	164284	broad.mit.edu	37	20	57045666	57045666	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:57045666C>T	ENST00000371149.3	-	2	417	c.188_splice	c.e2+1	p.G63_splice	APCDD1L_ENST00000439429.1_Splice_Site_p.G74_splice	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	63						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			AAGTCTTACCCTGTGGAGATC	0.567000													4	5					0	0	3.59834e-05	0	0
HADHA	3030	broad.mit.edu	37	2	26418002	26418002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:26418002C>T	ENST00000380649.3	-	15	1708	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	527					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGACCAACTGCTACAGCTGAA	0.463000													24	53					0	0	0.000720815	0	0
FSD1	79187	broad.mit.edu	37	19	4311957	4311957	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4311957G>A	ENST00000221856.6	+	7	756	c.609G>A	c.(607-609)cgG>cgA	p.R203R	FSD1_ENST00000597590.1_Silent_p.R203R|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	203	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTACCGGCGGACCAACT	0.622000													9	16					0	0	0.000442599	0	0
MKL1	57591	broad.mit.edu	37	22	40827452	40827452	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr22:40827452G>A	ENST00000396617.3	-	6	686	c.96C>T	c.(94-96)tcC>tcT	p.S32S	MKL1_ENST00000402042.1_Silent_p.S32S|MKL1_ENST00000402630.1_Silent_p.S32S|MKL1_ENST00000355630.3_Silent_p.S32S|MKL1_ENST00000407029.1_Silent_p.S32S			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TCTCCGGCCGGGAACGAATCT	0.473000			T	RBM15	acute megakaryocytic leukemia								35	178					0	0	0.000589545	0	0
TAF1B	9014	broad.mit.edu	37	2	10059866	10059866	+	Silent	SNP	T	T	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:10059866T>G	ENST00000263663.5	+	14	1670	c.1482T>G	c.(1480-1482)ctT>ctG	p.L494L	TAF1B_ENST00000396242.3_Silent_p.L239L	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	494					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACACAGCCTTCAGGGAGTCC	0.413000													12	25					0	0	0.000219431	0	0
EDEM1	9695	broad.mit.edu	37	3	5252854	5252854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:5252854C>T	ENST00000256497.4	+	10	1766	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	EDEM1_ENST00000445686.1_Missense_Mutation_p.R350W	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	545					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CACAGAAGACCGGATGGAGAG	0.468000													7	40					0	0	0.000442599	0	0
DDR2	4921	broad.mit.edu	37	1	162688866	162688866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:162688866C>T	ENST00000367922.2	+	4	451	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	DDR2_ENST00000367921.3_Missense_Mutation_p.P5S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	5					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GATCCTGATTCCCAGAATGCT	0.453000													18	84					0	0	0.000132079	0	0
BAI1	575	broad.mit.edu	37	8	143623570	143623570	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:143623570C>G	ENST00000517894.1	+	28	4869	c.3975C>G	c.(3973-3975)atC>atG	p.I1325M	BAI1_ENST00000323289.5_Missense_Mutation_p.I1325M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1325					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACGGGGACATCTTCAAGAAGC	0.672000													16	47					0	0	0.000175454	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224890	26224890	+	Silent	SNP	G	G	A	rs138591487		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:26224890G>A	ENST00000056233.3	+	4	1831	c.1572G>A	c.(1570-1572)agG>agA	p.R524R		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	524					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAAGATAAGGAGTAGATACC	0.433000													11	62					0	0	6.40141e-05	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389789	150389789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:150389789G>A	ENST00000223293.5	+	3	509	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	139						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGATGCCATGGGACACACAAT	0.537000													10	25					0	0	0.000673444	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170347	107170347	+	RNA	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:107170347G>A	ENST00000390633.2	-	0	81																											CCACAAAGAGGAACCTCCAGG	0.507000													9	68					0	0	0.000442599	0	0
CD2AP	23607	broad.mit.edu	37	6	47541892	47541892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:47541892C>T	ENST00000359314.5	+	6	1090	c.634C>T	c.(634-636)Cga>Tga	p.R212*		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	212					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAGAAAATTCGAGGAATTGG	0.408000													28	104					0	0	0.000184323	0	0
MATN3	4148	broad.mit.edu	37	2	20201770	20201770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:20201770G>A	ENST00000407540.3	-	4	1050	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	MATN3_ENST00000421259.2_Missense_Mutation_p.H288Y|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	330	EGF-like 2.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.H330D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCACAATGATAAGAGCCA	0.418000													8	38					0	0	0.000274275	0	0
TAF1B	9014	broad.mit.edu	37	2	10059867	10059867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:10059867C>T	ENST00000263663.5	+	14	1671	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*	TAF1B_ENST00000396242.3_Nonsense_Mutation_p.Q240*	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	495					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACAGCCTTCAGGGAGTCCT	0.413000													12	23					0	0	0.000219431	0	0
DOCK3	1795	broad.mit.edu	37	3	51198126	51198126	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:51198126G>A	ENST00000266037.9	+	12	1053	c.1030G>A	c.(1030-1032)Gtt>Att	p.V344I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	344						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)		TGTTCTTAAGGTTTACACGTG	0.443000													6	24					0	0	3.59834e-05	0	0
TTC16	158248	broad.mit.edu	37	9	130489680	130489680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:130489680G>A	ENST00000373289.3	+	12	1780	c.1700G>A	c.(1699-1701)gGa>gAa	p.G567E	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	567							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GTAAAACCGGGAAGCTCAGAG	0.592000													4	6					0	0	0.00024832	0	0
SHC3	53358	broad.mit.edu	37	9	91653172	91653172	+	Silent	SNP	G	G	A	rs71904677		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:91653172G>A	ENST00000375835.4	-	11	1698	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P	SHC3_ENST00000375831.1_Silent_p.P12P|SHC3_ENST00000375830.1_Silent_p.P12P	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	464	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CGGGCCCCAAGGGCTGGTTCT	0.478000													7	49					0	0	8.12818e-05	0	0
SSH1	54434	broad.mit.edu	37	12	109186337	109186337	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:109186337G>A	ENST00000326495.5	-	14	1711	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L	SSH1_ENST00000360239.3_Silent_p.L228L|SSH1_ENST00000551165.1_Silent_p.L540L|SSH1_ENST00000326470.5_Silent_p.L551L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	540					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCAACAGAGCCTCCCTC	0.602000													18	58					0	0	0.000175454	0	0
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:84784929C>T	ENST00000389394.3	+	11	1810	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	DNAH6_ENST00000237449.6_Missense_Mutation_p.S558L|DNAH6_ENST00000398278.2_Missense_Mutation_p.S558L	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	558	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S558*(1)|p.S137*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGCCTGATTCGTATTTTGAT	0.378000													21	127					0	0	0.000295444	0	0
CYP19A1	1588	broad.mit.edu	37	15	51535100	51535100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:51535100C>T	ENST00000396402.1	-	2	163	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CYP19A1_ENST00000559878.1_Missense_Mutation_p.E4K|CYP19A1_ENST00000557858.1_Missense_Mutation_p.E4K|CYP19A1_ENST00000396404.4_Missense_Mutation_p.E4K|CYP19A1_ENST00000405913.3_Missense_Mutation_p.E4K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.E4K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	4					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TTCAGCATTTCCAAAACCATC	0.468000													25	101					0	0	0.000184323	0	0
AMPD3	272	broad.mit.edu	37	11	10524388	10524388	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:10524388G>A	ENST00000444303.2	+	12	1958	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Missense_Mutation_p.G664R	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	655					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)		CCTACACAAGGGACTGCATGT	0.493000													8	42					0	0	0.000673444	0	0
MYO3A	53904	broad.mit.edu	37	10	26500832	26500832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:26500832C>T	ENST00000543632.1	+	17	1897	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	MYO3A_ENST00000265944.5_Silent_p.Y1597Y			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCAACCCCTACGACTTCAGGA	0.652000													8	24					0	0	0.000157383	0	0
MLH3	27030	broad.mit.edu	37	14	75497287	75497287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:75497287G>A	ENST00000355774.2	-	9	4161	c.3946C>T	c.(3946-3948)Ctt>Ttt	p.L1316F	MLH3_ENST00000380968.2_Missense_Mutation_p.L262F|MLH3_ENST00000556257.1_Missense_Mutation_p.L1138F|MLH3_ENST00000556740.1_Missense_Mutation_p.L1316F|MLH3_ENST00000238662.7_Missense_Mutation_p.L1292F|MLH3_ENST00000544985.1_3'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1316					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CCTCTCCGAAGTTCATTGGCT	0.423000								Mismatch excision repair (MMR)					26	110					0	0	0.000409698	0	0
GPR98	84059	broad.mit.edu	37	5	89992806	89992806	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:89992806G>A	ENST00000405460.2	+	34	8094	c.7998G>A	c.(7996-7998)gaG>gaA	p.E2666E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2666	Calx-beta 18.				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)		CTGAACCAGAGGATGACGAAA	0.373000													9	40					0	0	0.000673444	0	0
AKAP6	9472	broad.mit.edu	37	14	33201740	33201740	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:33201740C>T	ENST00000280979.4	+	10	3251	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	AKAP6_ENST00000557272.1_Silent_p.G1027G|AKAP6_ENST00000557354.1_Silent_p.G1027G	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1027					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAAAGGTGGCGTTTTACTAC	0.363000													13	52					0	0	0.000151284	0	0
IFNA21	3452	broad.mit.edu	37	9	21166166	21166166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:21166166C>T	ENST00000380225.1	-	1	493	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	149					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AAGAGTGATTCTTTGGAAGTA	0.448000													45	185					0	0	0.000781405	0	0
NLRP2	55655	broad.mit.edu	37	19	55493003	55493003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:55493003G>A	ENST00000543010.1	+	5	559	c.416G>A	c.(415-417)gGa>gAa	p.G139E	NLRP2_ENST00000339757.7_Intron|NLRP2_ENST00000427260.2_Missense_Mutation_p.G116E|NLRP2_ENST00000538819.1_Missense_Mutation_p.G115E|NLRP2_ENST00000537859.1_Intron|NLRP2_ENST00000448584.2_Missense_Mutation_p.G139E|NLRP2_ENST00000391721.4_Missense_Mutation_p.G115E|NLRP2_ENST00000263437.6_Missense_Mutation_p.G136E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	139					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAAACGAAAGGAAATGTCATC	0.403000													16	74					0	0	0.000175454	0	0
DNAH5	1767	broad.mit.edu	37	5	13762984	13762984	+	Silent	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:13762984T>C	ENST00000265104.4	-	60	10232	c.10128A>G	c.(10126-10128)gaA>gaG	p.E3376E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3376	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTATCACCTCTTCATTGATTG	0.368000									Kartagener syndrome				8	47					0	0	0.000274275	0	0
CACNA2D1	781	broad.mit.edu	37	7	81591790	81591790	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:81591790G>A	ENST00000356860.3	-	35	3140	c.2802C>T	c.(2800-2802)ctC>ctT	p.L934L	CACNA2D1_ENST00000356253.5_Silent_p.L946L|CACNA2D1_ENST00000535308.1_Silent_p.L146L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	946						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAAACTCAAGAGAAACTGCT	0.333000													5	21					0	0	3.59834e-05	0	0
DYSF	8291	broad.mit.edu	37	2	71827952	71827952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:71827952G>A	ENST00000258104.3	+	34	4100	c.3823G>A	c.(3823-3825)Gag>Aag	p.E1275K	DYSF_ENST00000410020.3_Missense_Mutation_p.E1293K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1306K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1307K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.E1292K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1276K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1276K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1275K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1262K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1292K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1293K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1275						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCCTCTTTTGAGCTCATCCA	0.632000													10	57					0	0	6.40141e-05	0	0
ZNF667	63934	broad.mit.edu	37	19	56953852	56953852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:56953852G>A	ENST00000504904.3	-	7	1231	c.512C>T	c.(511-513)cCt>cTt	p.P171L	ZNF667_ENST00000292069.6_Missense_Mutation_p.P171L|ZNF667_ENST00000342634.3_Missense_Mutation_p.P299L|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GCATTCAAAAGGCTTCTCTCC	0.363000													11	50					0	0	0.000673444	0	0
RYR2	6262	broad.mit.edu	37	1	237787107	237787107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:237787107C>T	ENST00000366574.2	+	39	6276	c.5959C>T	c.(5959-5961)Cca>Tca	p.P1987S	RYR2_ENST00000542537.1_Missense_Mutation_p.P1971S|RYR2_ENST00000360064.6_Missense_Mutation_p.P1985S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1987	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGAATGTCCATGTCCAGA	0.323000													17	74					0	0	0.000295444	0	0
MKNK1	8569	broad.mit.edu	37	1	47027272	47027272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:47027272G>A	ENST00000371946.4	-	12	1169	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	MKNK1_ENST00000371945.4_Missense_Mutation_p.P295S|MKNK1_ENST00000341183.5_Missense_Mutation_p.P295S|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_Missense_Mutation_p.P295S|MKNK1_ENST00000371944.4_Missense_Mutation_p.P200S	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	336	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCTTGTCAGGAAACTCATAC	0.527000													4	40					0	0	3.59834e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54305845	54305845	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:54305845G>A	ENST00000545554.1	+	1	745	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E249K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E249K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	249					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GATCTTTAAGGAACTTCAGGG	0.468000													16	49					0	0	0.000958276	0	0
AAK1	22848	broad.mit.edu	37	2	69734626	69734626	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:69734626G>A	ENST00000409085.4	-	15	2467	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	AAK1_ENST00000406297.3_Silent_p.P697P|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	697						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CGTCATCAAAGGGATTCCACG	0.468000													6	22					0	0	8.12818e-05	0	0
CYLC2	1539	broad.mit.edu	37	9	105767683	105767683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:105767683C>T	ENST00000374798.3	+	5	840	c.770C>T	c.(769-771)tCg>tTg	p.S257L	CYLC2_ENST00000487798.1_Missense_Mutation_p.S257L	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	257	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GGTGATGAATCGAAGGATGCC	0.378000													14	57					0	0	0.000151284	0	0
OR10H1	26539	broad.mit.edu	37	19	15918195	15918195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:15918195G>A	ENST00000334920.2	-	1	741	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GAAGGCATAGGAGAGGAGGAT	0.577000													7	41					0	0	0.000442599	0	0
LRRN1	57633	broad.mit.edu	37	3	3886930	3886930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:3886930C>T	ENST00000319331.3	+	2	1366	c.605C>T	c.(604-606)cCt>cTt	p.P202L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	202						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGAGAAAACCCTGTGATTGGA	0.403000													19	109					0	0	0.000175454	0	0
APOB	338	broad.mit.edu	37	2	21224871	21224871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:21224871C>T	ENST00000233242.1	-	29	13550	c.13423G>A	c.(13423-13425)Gaa>Aaa	p.E4475K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4475					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)	TTAATTATTTCCTGAGCAGTG	0.393000													106	452					0	0	0.000781405	0	0
TRGC1	6966	broad.mit.edu	37	7	38305255	38305255	+	RNA	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:38305255G>A	ENST00000443402.2	-	0	24					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GGGCTTGGGGGAAACATCTGC	0.378000													46	126					0	0	0.000781405	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959507	45959507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:45959507G>A	ENST00000400375.1	-	1	571	c.527C>T	c.(526-528)tCc>tTc	p.S176F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	176	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGGGGAGGAGGTGCAGCA	0.617000													19	73					0	0	0.000958276	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228230	111228230	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:111228230C>T	ENST00000393067.3	-	4	910	c.396G>A	c.(394-396)acG>acA	p.T132T		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	132					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCCCCACCACCGTGTAGCTGG	0.592000			T	BCL6	NHL								9	26					0	0	0.000442599	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197118	71197118	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr14:71197118G>A	ENST00000554752.2	-	12	3293	c.3294C>T	c.(3292-3294)atC>atT	p.I1098I	MAP3K9_ENST00000553414.1_Silent_p.I831I|MAP3K9_ENST00000554146.1_Silent_p.I826I|MAP3K9_ENST00000555993.2_Silent_p.I1112I|MAP3K9_ENST00000381250.4_Silent_p.I1075I			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1098					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACTCCTGCTGGATCTCATAAG	0.627000													9	34					0	0	0.000442599	0	0
STAB1	23166	broad.mit.edu	37	3	52557285	52557285	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:52557285G>A	ENST00000321725.6	+	64	7144	c.7068G>A	c.(7066-7068)ctG>ctA	p.L2356L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2356	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCGACTTCCTGGACTTCCTGG	0.557000													26	51					0	0	0.000147802	0	0
EXO5	64789	broad.mit.edu	37	1	40980715	40980715	+	Missense_Mutation	SNP	C	C	T	rs145571905	byFrequency	TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:40980715C>T	ENST00000372703.1	+	2	1573	c.499C>T	c.(499-501)Cca>Tca	p.P167S	EXO5_ENST00000296380.4_Missense_Mutation_p.P167S|EXO5_ENST00000358527.2_Missense_Mutation_p.P167S|RP11-656D10.5_ENST00000453437.1_RNA					exonuclease 5																		CAGAGAGTTTCCAGTGTTTGG	0.493000													16	44					0	0	0.000132079	0	0
PID1	55022	broad.mit.edu	37	2	229890709	229890709	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:229890709G>A	ENST00000392054.3	-	4	725	c.386C>T	c.(385-387)cCg>cTg	p.P129L	PID1_ENST00000392055.3_Missense_Mutation_p.P98L|PID1_ENST00000354069.6_Missense_Mutation_p.P131L|PID1_ENST00000409462.1_Missense_Mutation_p.P49L|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	131	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)		GGCATTGGCCGGAAAGACATC	0.547000													15	22					0	0	0.000308642	0	0
COL7A1	1294	broad.mit.edu	37	3	48605295	48605295	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:48605295G>A	ENST00000328333.8	-	106	8012	c.7905C>T	c.(7903-7905)ggC>ggT	p.G2635G	COL7A1_ENST00000454817.1_Silent_p.G2603G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2635	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCATCAAGGCCACAGGCTC	0.602000													8	37					0	0	0.000274275	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCAGCTCTCGGAACATCTCG	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	22					0	0	8.12818e-05	0	0
ROR2	4920	broad.mit.edu	37	9	94487018	94487018	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:94487018G>A	ENST00000375708.3	-	9	1956	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ROR2_ENST00000375715.1_Silent_p.A446A|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	586	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCTCCAGGGCGGACTTCA	0.647000													4	16					0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155199129	155199129	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:155199129G>A	ENST00000460012.1	-	23	4953	c.4596C>T	c.(4594-4596)ctC>ctT	p.L1532L	PLCH1_ENST00000414191.1_Silent_p.L1532L|PLCH1_ENST00000334686.6_Silent_p.L1532L|PLCH1_ENST00000340059.7_Silent_p.L1570L|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1570					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGCCCGGGGGAGCTGATTGG	0.517000													14	49					0	0	0.000308642	0	0
SIK1	150094	broad.mit.edu	37	21	44841562	44841562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr21:44841562G>A	ENST00000270162.6	-	5	587	c.455C>T	c.(454-456)aCc>aTc	p.T152I		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	152	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GAGGTTCTCGGTCTTGAGGTC	0.617000													4	15					0	0	0.00024832	0	0
RNF152	220441	broad.mit.edu	37	18	59483555	59483555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr18:59483555C>T	ENST00000312828.3	-	2	1241	c.142G>A	c.(142-144)Gat>Aat	p.D48N		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	48					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CACCGCACATCCTTCTGGCTG	0.637000													12	20					0	0	0.00010058	0	0
ASAP3	55616	broad.mit.edu	37	1	23759722	23759722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:23759722C>T	ENST00000336689.3	-	22	2215	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.G715E|ASAP3_ENST00000495646.1_Missense_Mutation_p.G228E	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	724					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GTCCAGCCTCCCACTGGCCCA	0.632000													15	59					0	0	0.000566183	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835093	61835093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:61835093G>A	ENST00000370339.3	-	4	540	c.199C>T	c.(199-201)Cct>Tct	p.P67S	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.P17S	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGGAGTAAGGAAATCCAATG	0.512000													5	21					0	0	0.000602214	0	0
TP53TG3D	729264	broad.mit.edu	37	16	32264971	32264971	+	Silent	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:32264971T>C	ENST00000398664.3	+	1	932	c.297T>C	c.(295-297)agT>agC	p.S99S	TP53TG3D_ENST00000354614.3_Silent_p.S99S|TP53TG3D_ENST00000569631.1_Intron|RP11-56L13.7_ENST00000562604.1_RNA	NM_001243722.1	NP_001230651.1			TP53 target 3D																		ATGTTCGAAGTTTGATACCTT	0.562000													6	52					0	0	6.40141e-05	0	0
RRP36	88745	broad.mit.edu	37	6	42995176	42995176	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:42995176C>G	ENST00000244496.5	+	6	614	c.604C>G	c.(604-606)Cag>Gag	p.Q202E		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	202					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ACGTCGGGCTCAGGCCCAGCA	0.567000													14	36					0	0	0.000151284	0	0
C12orf42	374470	broad.mit.edu	37	12	103795449	103795449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:103795449G>A	ENST00000378113.2	-	3	308	c.83C>T	c.(82-84)tCc>tTc	p.S28F	C12orf42_ENST00000548883.1_Missense_Mutation_p.S28F|C12orf42_ENST00000315192.8_Missense_Mutation_p.S28F|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_5'UTR	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	28										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATAGCAAGGGGATTTCTGAAA	0.433000													8	26					0	0	6.40141e-05	0	0
AFF2	2334	broad.mit.edu	37	X	148037975	148037975	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:148037975C>T	ENST00000370460.2	+	11	2879	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	AFF2_ENST00000286437.5_Silent_p.N441N|AFF2_ENST00000342251.3_Silent_p.N767N|AFF2_ENST00000370457.5_Silent_p.N767N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	800					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGAAAAACCTCTGGGTGA	0.478000													23	30					0	0	0.000586117	0	0
C8A	731	broad.mit.edu	37	1	57347137	57347137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:57347137G>A	ENST00000361249.3	+	5	580	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	162	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCTGACCCAGGAAGATGCTCA	0.458000													13	49					0	0	0.000422831	0	0
WDR13	64743	broad.mit.edu	37	X	48457988	48457988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:48457988G>A	ENST00000218056.5	+	4	911	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	136						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCTGGCAGCGTGGTGCCCAC	0.617000													12	12					0	0	0.000422831	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94654429	94654429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:94654429C>T	ENST00000260526.6	-	15	1827	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	549					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GATCTAGATTCGCTGCTCCCT	0.358000													21	76					0	0	0.000586117	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808315	18808315	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:18808315G>A	ENST00000400664.1	+	1	892	c.840G>A	c.(838-840)ggG>ggA	p.G280G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	280						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCGGAGGGGGTTGAGCCCC	0.597000													16	52					0	0	0.00074312	0	0
ANK1	286	broad.mit.edu	37	8	41655042	41655042	+	Silent	SNP	C	C	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:41655042C>A	ENST00000396942.1	-	1	98	c.15G>T	c.(13-15)gtG>gtT	p.V5V	ANK1_ENST00000265709.8_Intron|ANK1_ENST00000352337.4_Silent_p.V5V|ANK1_ENST00000521407.1_5'UTR|ANK1_ENST00000379758.2_Silent_p.V5V|ANK1_ENST00000396945.1_Silent_p.V5V|ANK1_ENST00000289734.7_Silent_p.V5V|ANK1_ENST00000347528.4_Silent_p.V5V			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	5	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGCGGAAGCCCACAGAATAGG	0.692000													4	20					8.12818e-05	0.00107488	8.12818e-05	1	0
IFNE	338376	broad.mit.edu	37	9	21481111	21481111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:21481111C>T	ENST00000448696.3	-	1	1201	c.583G>A	c.(583-585)Gac>Aac	p.D195N	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	195					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						TGCTTCATGTCGTTCAAGGGT	0.458000													19	97					0	0	0.000375601	0	0
PCDH15	65217	broad.mit.edu	37	10	55566674	55566674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr10:55566674G>A	ENST00000373965.2	-	36	5114	c.4720C>T	c.(4720-4722)Cga>Tga	p.R1574*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R1571*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425					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)				CCTCCCAGTCGAACAGGGGAA	0.453000										HNSCC(58;0.16)			17	70					0	0	0.000566183	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512148	120512148	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:120512148G>T	ENST00000256646.2	-	6	1313	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	365	EGF-like 9; calcium-binding (Potential).				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)		CTTCCCCTCTGGGCACATGCA	0.552000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	159					0.000157383	0.00207249	0.000157383	1	0
NUP214	8021	broad.mit.edu	37	9	134006221	134006221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:134006221C>T	ENST00000359428.5	+	5	805	c.661C>T	c.(661-663)Cct>Tct	p.P221S	NUP214_ENST00000451030.1_Missense_Mutation_p.P221S|NUP214_ENST00000411637.2_Missense_Mutation_p.P221S			P35658	NU214_HUMAN	nucleoporin 214kDa	221					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCAGTATCTTCCTGTAAGTTC	0.398000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								13	37					0	0	0.000151284	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442014	20442014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:20442014C>T	ENST00000375105.3	-	3	336	c.278G>A	c.(277-279)gGg>gAg	p.G93E		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	93					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGATGTTCCCCTGGGAAAA	0.567000										Multiple Myeloma(11;0.12)			8	20					0	0	0.000442599	0	0
GPR32	2854	broad.mit.edu	37	19	51274920	51274920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:51274920C>T	ENST00000270590.4	+	1	1200	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	355						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CAACGCCCCCCGGGAATGATG	0.522000													10	57					0	0	6.40141e-05	0	0
COL19A1	1310	broad.mit.edu	37	6	70856589	70856589	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr6:70856589G>A	ENST00000322773.4	+	26	1911	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G	COL19A1_ENST00000393344.1_Silent_p.G225G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	603	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTCCACGTGGGCCAAAGGTAT	0.323000													10	43					0	0	6.40141e-05	0	0
THBS4	7060	broad.mit.edu	37	5	79366551	79366551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:79366551G>A	ENST00000350881.2	+	12	1728	c.1538G>A	c.(1537-1539)gGa>gAa	p.G513E	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G422E|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	513					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GATGCTGACGGAGATGGGATC	0.517000													24	56					0	0	0.000878237	0	0
KIAA1033	23325	broad.mit.edu	37	12	105520090	105520090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:105520090C>T	ENST00000332180.5	+	12	1075	c.988C>T	c.(988-990)Cga>Tga	p.R330*		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	330					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TCAGATTTTTCGAACTATTGA	0.299000													33	88					0	0	0.000409698	0	0
PLCB4	5332	broad.mit.edu	37	20	9319562	9319562	+	Missense_Mutation	SNP	C	C	G	rs139867288		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:9319562C>G	ENST00000378501.2	+	4	262	c.247C>G	c.(247-249)Ctt>Gtt	p.L83V	PLCB4_ENST00000334005.3_Missense_Mutation_p.L83V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L83V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L83V|PLCB4_ENST00000378493.1_Missense_Mutation_p.L83V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.L83V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	83					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTGGCTGCTCTTGAAGCTGT	0.408000													6	65					0	0	8.12818e-05	0	0
OR51I2	390064	broad.mit.edu	37	11	5475289	5475289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:5475289G>A	ENST00000341449.2	+	1	652	c.571G>A	c.(571-573)Gat>Aat	p.D191N	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTGTGCTGATATCAGTAT	0.458000													22	80					0	0	0.000375601	0	0
S100A7L2	645922	broad.mit.edu	37	1	153409576	153409576	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:153409576C>T	ENST00000368725.2	-	3	296	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATGCATTATCTTGTGGTGGT	0.478000													28	66					0	0	0.000227799	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1969909	1969909	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:1969909C>T	ENST00000255641.8	+	2	633	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	46	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		GCCCCAACTTCCGCGTCGGCA	0.716000													9	28					0	0	0.000673444	0	0
C3orf56	285311	broad.mit.edu	37	3	126915998	126915998	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:126915998G>A	ENST00000398112.1	+	2	710	c.470G>A	c.(469-471)gGa>gAa	p.G157E		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCAGGTGGGATGCTGGACT	0.622000													13	42					0	0	0.000219431	0	0
ADCY7	113	broad.mit.edu	37	16	50339413	50339413	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr16:50339413G>A	ENST00000394697.2	+	13	1935		c.e13-1		ADCY7_ENST00000538642.1_Splice_Site|ADCY7_ENST00000254235.3_Splice_Site|ADCY7_ENST00000566433.2_Splice_Site|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCTGATTCCAGAAGCATGTCC	0.592000													20	92					0	0	0.000375601	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294776	4294776	+	Silent	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr19:4294776G>A	ENST00000301272.2	-	3	489	c.444C>T	c.(442-444)ttC>ttT	p.F148F	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Silent_p.F28F|TMIGD2_ENST00000595645.1_Silent_p.F148F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	148						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCACCTGGGAAGCTTGCGA	0.592000													6	19					0	0	3.59834e-05	0	0
TACC1	6867	broad.mit.edu	37	8	38677795	38677795	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:38677795C>T	ENST00000379931.3	+	3	1412	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	TACC1_ENST00000518415.1_Silent_p.L300L|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Silent_p.L150L|TACC1_ENST00000317827.4_Silent_p.L345L|TACC1_ENST00000520340.1_Silent_p.L309L|TACC1_ENST00000520973.1_Silent_p.L150L|TACC1_ENST00000520615.1_Silent_p.L150L|TACC1_ENST00000443286.2_Silent_p.L361L|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	345	Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCAGGAAACTGGGTAGCAC	0.507000													23	67					0	0	0.000295444	0	0
TBCEL	219899	broad.mit.edu	37	11	120925773	120925773	+	Silent	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:120925773C>T	ENST00000422003.2	+	5	656	c.468C>T	c.(466-468)ctC>ctT	p.L156L	TBCEL_ENST00000529397.1_Silent_p.L156L	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	156						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGGAGGAGCTCTTCCTGTGCC	0.333000													4	29					0	0	0.000602214	0	0
UBE2R2	54926	broad.mit.edu	37	9	33912014	33912014	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:33912014C>G	ENST00000263228.3	+	4	606	c.415C>G	c.(415-417)Cca>Gca	p.P139A		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	139					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CACCTTCTCCCCAGCCAATGT	0.358000													4	77					0	0	3.59834e-05	0	0
WDR16	146845	broad.mit.edu	37	17	9489185	9489185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr17:9489185G>A	ENST00000352665.5	+	2	235	c.166G>A	c.(166-168)Gag>Aag	p.E56K	WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.E66K	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	56						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATACTAAAGAGCAGAACTT	0.488000													28	74					0	0	0.000184323	0	0
NUPL1	9818	broad.mit.edu	37	13	25901094	25901094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr13:25901094C>T	ENST00000463407.1	+	11	1215	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	NUPL1_ENST00000381736.3_Nonsense_Mutation_p.Q358*|NUPL1_ENST00000381718.3_Nonsense_Mutation_p.Q346*|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	358	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTACAGCTTCAGCAGTACAG	0.348000													18	68					0	0	0.00074312	0	0
CCNB3	85417	broad.mit.edu	37	X	50053237	50053237	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:50053237T>C	ENST00000376042.1	+	6	2366	c.2068T>C	c.(2068-2070)Ttc>Ctc	p.F690L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F690L			Q8WWL7	CCNB3_HUMAN	cyclin B3	690					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGGTCCCTCTTCCAGGAGGC	0.463000													4	7					0	0	0.00024832	0	0
LRRN2	10446	broad.mit.edu	37	1	204588730	204588730	+	Missense_Mutation	SNP	G	G	A	rs148739326		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:204588730G>A	ENST00000367175.1	-	1	2603	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	LRRN2_ENST00000367177.3_Missense_Mutation_p.R131W|LRRN2_ENST00000367176.3_Missense_Mutation_p.R131W			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	131					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCCTCCAGCCGGGTCAGCTGG	0.607000													23	65					0	0	0.000586117	0	0
OR4C13	283092	broad.mit.edu	37	11	49974085	49974085	+	Missense_Mutation	SNP	G	G	A	rs141161603		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr11:49974085G>A	ENST00000555099.1	+	1	143	c.111G>A	c.(109-111)atG>atA	p.M37I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M37I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCAACGCCATGATAGGAAATG	0.418000													28	124					0	0	0.000227799	0	0
CLDN11	5010	broad.mit.edu	37	3	170141080	170141080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:170141080G>A	ENST00000064724.3	+	2	558	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Missense_Mutation_p.R119Q|CLDN11_ENST00000451576.1_Missense_Mutation_p.R119Q	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	119					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAGTACAGGCGGGCCCAGCTG	0.567000													17	40					0	0	0.00074312	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820326	159820326	+	RNA	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr3:159820326C>T	ENST00000497452.1	-	0	517																											GCACCAGACCCCCTCCCAACA	0.458000													7	33					0	0	0.000157383	0	0
TOX2	84969	broad.mit.edu	37	20	42683020	42683020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr20:42683020G>A	ENST00000358131.5	+	5	968	c.760G>A	c.(760-762)Gag>Aag	p.E254K	TOX2_ENST00000423191.1_Missense_Mutation_p.E203K|TOX2_ENST00000435864.2_Missense_Mutation_p.E123K|TOX2_ENST00000372999.1_Missense_Mutation_p.E203K|TOX2_ENST00000341197.3_Missense_Mutation_p.E245K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGACCCCAATGAGCCGCAGAA	0.547000													5	16					0	0	0.000602214	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058684	79058684	+	Missense_Mutation	SNP	G	G	A	rs35827199		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:79058684G>A	ENST00000388820.4	-	19	3779	c.3569C>T	c.(3568-3570)cCt>cTt	p.P1190L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TTGGCTCTCAGGGGTGGCAGG	0.602000													4	22					0	0	0.00024832	0	0
DNAH10	196385	broad.mit.edu	37	12	124352501	124352501	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr12:124352501G>C	ENST00000409039.3	+	42	7025	c.7000G>C	c.(7000-7002)Gac>Cac	p.D2334H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2334					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAATAGAAGACCTTGACCT	0.483000													4	21					0	0	0.000602214	0	0
UACA	55075	broad.mit.edu	37	15	70960302	70960302	+	Silent	SNP	T	T	C			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr15:70960302T>C	ENST00000322954.6	-	16	2906	c.2721A>G	c.(2719-2721)ttA>ttG	p.L907L	UACA_ENST00000539319.1_Silent_p.L798L|UACA_ENST00000560441.1_Silent_p.L892L|UACA_ENST00000379983.2_Silent_p.L894L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	907						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GGTTTCTTTTTAATATTTCAT	0.338000													4	30					0	0	0.00024832	0	0
NPR2	4882	broad.mit.edu	37	9	35800763	35800763	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr9:35800763C>T	ENST00000342694.2	+	6	1531	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	426					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGGCCTATTCCCTGGGTGAA	0.607000													8	17					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179500209	179500209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:179500209C>T	ENST00000589042.1	-	227	42066	c.41842G>A	c.(41842-41844)Gaa>Aaa	p.E13948K	TTN_ENST00000359218.5_Missense_Mutation_p.E5008K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12307K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4883K|TTN_ENST00000342992.6_Missense_Mutation_p.E11380K|TTN_ENST00000342175.6_Missense_Mutation_p.E5075K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12307	Ig-like 95.						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)			CCTTCAATTTCCACTGCATAC	0.348000													4	8					0	0	0.00024832	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													4	8	---	---	---	---					
MYO1B	4430	broad.mit.edu	37	2	192279255	192279256	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr2:192279255_192279256insT	ENST00000392318.3	+	29	3266_3267	c.3019_3020insT	c.(3019-3021)tttfs	p.F1007fs	MYO1B_ENST00000439065.2_Frame_Shift_Ins_p.F252fs|MYO1B_ENST00000304164.4_Frame_Shift_Ins_p.F1007fs|MYO1B_ENST00000392316.1_Frame_Shift_Ins_p.F978fs|MYO1B_ENST00000339514.4_Frame_Shift_Ins_p.F949fs	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1007						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TACATCTCGGATTTTCCTCTTA	0.342													7	46	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22749784	22749785	+	RNA	DEL	TA	TA	-	rs73803318		TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr4:22749784_22749785delTA	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGCatatgtatatatatata	0.342													3	3	---	---	---	---					
SOWAHA	134548	broad.mit.edu	37	5	132150701	132150701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr5:132150701delG	ENST00000378693.2	+	1	1669	c.1388delG	c.(1387-1389)ccfs	p.R463fs		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	463																	GCTGCCAGGCGCCCCGTACAG	0.667													2	4	---	---	---	---					
ING3	54556	broad.mit.edu	37	7	120613283	120613284	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr7:120613283_120613284insG	ENST00000315870.5	+	11	1274_1275	c.1126_1127insG	c.(1126-1128)tgafs	p.*376fs	ING3_ENST00000431467.1_Frame_Shift_Ins_p.*361fs	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	376					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GATGGTGGGATGTGATAACCAA	0.282													28	126	---	---	---	---					
NEFL	4747	broad.mit.edu	37	8	24814075	24814075	+	RNA	DEL	G	G	-			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chr8:24814075delG	ENST00000221169.5	-	0	549							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTGGGAGCCCGGAGAGAGAGG	0.677													2	4	---	---	---	---					
ZFX	7543	broad.mit.edu	37	X	24229150	24229151	+	Frame_Shift_Ins	INS	-	-	TAGA			TCGA-EE-A2GT-06A-12D-A197-08	TCGA-EE-A2GT-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5310f698-d31a-4628-84b4-dc9ac29722a5	69d0bff4-eec5-40a7-ab3d-cba125bc29f7	g.chrX:24229150_24229151insTAGA	ENST00000379177.1	+	11	2502_2503	c.2075_2076insTAGA	c.(2074-2076)tagfs	p.*692fs	ZFX_ENST00000304543.5_Frame_Shift_Ins_p.*692fs|ZFX_ENST00000338565.3_Frame_Shift_Ins_p.*642fs|ZFX_ENST00000540034.1_Frame_Shift_Ins_p.*731fs|ZFX_ENST00000539115.1_Frame_Shift_Ins_p.*463fs|ZFX_ENST00000379188.3_Frame_Shift_Ins_p.*692fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATGCACCAGTGTAGACATTGTG	0.431													27	48	---	---	---	---