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
NPY4R	5540	broad.mit.edu	37	10	47087779	47087779	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:47087779G>A	ENST00000374312.1	+	3	1415	c.996G>A	c.(994-996)gaG>gaA	p.E332E	NPY4R_ENST00000395716.1_Silent_p.E332E	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCAAGAAGGAGATCAAGGCCC	0.562000													17	74					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7836449	7836449	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7836449C>T	ENST00000380262.3	+	1	977	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	CNTROB_ENST00000380255.3_Silent_p.L18L|CNTROB_ENST00000563694.1_Silent_p.L18L|CNTROB_ENST00000565740.1_Silent_p.L18L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	18					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGATCTCCTGAGTGATTC	0.587000													32	73					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836655	47836655	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:47836655G>A	ENST00000396965.1	-	7	1181	c.831C>T	c.(829-831)ctC>ctT	p.L277L	ZNF182_ENST00000376943.3_Silent_p.L258L|ZNF182_ENST00000305127.6_Silent_p.L277L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AGTGTATAATGAGCTGAGATT	0.418000													27	41					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251997	43251997	+	Silent	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:43251997C>A	ENST00000259750.4	+	14	3602	c.3519C>A	c.(3517-3519)ccC>ccA	p.P1173P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1173						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGCAGCCCGCCAGCAGAT	0.701000													5	19					0.014758	0.0147775	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122261759	122261759	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:122261759G>A	ENST00000334010.7	-	5	1301	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	CADPS2_ENST00000313070.7_Missense_Mutation_p.P294S|CADPS2_ENST00000449022.2_Missense_Mutation_p.P294S|CADPS2_ENST00000412584.2_Missense_Mutation_p.P294S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	294					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATAAATTTGGGGAATTTTCTT	0.274000													7	22					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35333707	35333707	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:35333707G>A	ENST00000374748.1	-	8	909	c.596C>T	c.(595-597)cCc>cTc	p.P199L	CUL2_ENST00000374749.3_Missense_Mutation_p.P199L|CUL2_ENST00000537177.1_Missense_Mutation_p.P218L|CUL2_ENST00000374746.1_Missense_Mutation_p.P199L|CUL2_ENST00000374742.1_Missense_Mutation_p.P199L|CUL2_ENST00000374751.3_Missense_Mutation_p.P199L|CUL2_ENST00000602371.1_Missense_Mutation_p.P142L			Q13617	CUL2_HUMAN	cullin 2	199					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TACCTTTAAGGGGAATTTTTT	0.323000													12	17					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567484	58567484	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:58567484C>T	ENST00000348616.4	+	10	1635	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	CDH26_ENST00000244047.5_Silent_p.S445S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S445S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACAAAAACTCCGGAGTGGTCA	0.398000													9	10					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24243037	24243037	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr13:24243037C>T	ENST00000382263.3	+	9	1230	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	TNFRSF19_ENST00000403372.2_Missense_Mutation_p.S217L|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.S349L|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.S349L	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	349					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTTTGGATTCAAATAGCAGT	0.408000													37	68					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926276	83926276	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:83926276G>A	ENST00000345382.2	-	5	2988	c.2903C>T	c.(2902-2904)tCg>tTg	p.S968L	BNC1_ENST00000569704.1_Missense_Mutation_p.S961L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	968					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCGAACAGACGAAAACATGGT	0.498000													40	74					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134987528	134987528	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:134987528C>T	ENST00000535938.1	+	5	598	c.431C>T	c.(430-432)cCa>cTa	p.P144L	SAGE1_ENST00000537770.1_Missense_Mutation_p.P144L|SAGE1_ENST00000324447.3_Missense_Mutation_p.P144L|SAGE1_ENST00000370709.3_Missense_Mutation_p.P144L	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	144										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTGGTATTCCATCCATGAGT	0.423000													31	69					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698402	150698402	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:150698402G>A	ENST00000297494.3	+	11	1674	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	NOS3_ENST00000467517.1_Silent_p.G439G|NOS3_ENST00000461406.1_Silent_p.G233G|NOS3_ENST00000484524.1_Silent_p.G439G	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	439	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G439G(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGCCAGGGGGGGCTGCCCTG	0.612000													63	43					0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703728	3703728	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:3703728G>A	ENST00000378251.1	-	2	789	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	254					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGTACTCCAGGATGGATCTGG	0.632000													19	41					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86887233	86887233	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:86887233G>A	ENST00000373119.4	+	7	1493	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	KLHL4_ENST00000373114.4_Missense_Mutation_p.D450N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	450						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAAAAATATGACCTCAGGAC	0.363000													13	24					0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49724043	49724043	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:49724043G>A	ENST00000303221.5	-	2	346	c.131C>T	c.(130-132)cCa>cTa	p.P44L	EMB_ENST00000514111.1_5'UTR|EMB_ENST00000508934.1_Missense_Mutation_p.P44L|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	44						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TCTGAGAGGTGGACTTGTAAA	0.323000													10	25					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172353524	172353524	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:172353524C>T	ENST00000393784.3	+	7	632	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	165					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGAACATCCACGGAGCTTT	0.592000													31	99					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113529418	113529418	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:113529418G>A	ENST00000297405.5	-	28	4845	c.4601C>T	c.(4600-4602)cCc>cTc	p.P1534L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1534	Sushi 8.					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						CCCATTCATGGGGACCCCTGG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	32					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819118	159819118	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:159819118G>A	ENST00000497452.1	-	0	517																											TCCTGTGACTGATTTTATTGC	0.368000													11	33					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461449	70461449	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:70461449C>T	ENST00000327305.6	-	6	1199	c.542G>A	c.(541-543)gGa>gAa	p.G181E	NETO1_ENST00000299430.2_Missense_Mutation_p.G180E|NETO1_ENST00000583169.1_Missense_Mutation_p.G181E	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	181	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCACAATTCCTTCGGAACC	0.428000													19	57					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121326208	121326208	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:121326208G>A	ENST00000297848.3	+	38	4763	c.4493G>A	c.(4492-4494)gGa>gAa	p.G1498E	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1498E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1403E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1498	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGTCTGCCAGGACCTCAGGGT	0.473000													37	75					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14508949	14508949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:14508949C>T	ENST00000242786.5	+	9	975	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	CD97_ENST00000357355.3_Nonsense_Mutation_p.Q250*|CD97_ENST00000358600.3_Nonsense_Mutation_p.Q206*	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	299					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTCACCATCCAGGTAAGGGC	0.597000													19	46					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234034	58234034	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:58234034G>A	ENST00000300900.4	+	3	325	c.226G>A	c.(226-228)Gat>Aat	p.D76N		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	76					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTCTGGCTACGATAAGAAGCA	0.572000													16	56					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242007269	242007269	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:242007269C>T	ENST00000310397.8	+	22	3101	c.3101C>T	c.(3100-3102)aCc>aTc	p.T1034I	SNED1_ENST00000342631.6_Missense_Mutation_p.T1034I|SNED1_ENST00000405547.3_Missense_Mutation_p.T1034I|SNED1_ENST00000401884.1_Missense_Mutation_p.T1034I	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1034	Fibronectin type-III 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCCATGCCACCGTCAGTGGG	0.622000													24	24					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394606	86394606	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:86394606G>A	ENST00000361669.2	+	2	1244	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.E49K|GRM3_ENST00000394720.2_Missense_Mutation_p.E47K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	49					synaptic transmission	integral to plasma membrane		p.E49K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTATTAACGAAAAAGGCAC	0.408000													20	71					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22022498	22022498	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:22022498A>T	ENST00000377072.3	+	20	2869	c.2521A>T	c.(2521-2523)Aat>Tat	p.N841Y	MLLT10_ENST00000446906.2_Missense_Mutation_p.N825Y|MLLT10_ENST00000307729.7_Missense_Mutation_p.N825Y|MLLT10_ENST00000377059.3_Missense_Mutation_p.N825Y	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	841					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTACCTGATAATTCTCTTCC	0.279000			T	"""MLL, PICALM, CDK6"""	AL								3	3					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77914847	77914847	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:77914847C>T	ENST00000553888.1	-	7	1004	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	VIPAS39_ENST00000557658.1_Missense_Mutation_p.R165Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R191Q|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R116Q|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R165Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R152Q	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CTTGCCCTTCCGGAGACGTCG	0.453000													22	55					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72741115	72741115	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:72741115C>T	ENST00000377182.4	+	6	1301	c.684C>T	c.(682-684)ttC>ttT	p.F228F	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	228	MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAGCACTTCCAGGAGGTGG	0.527000													22	24					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7329932	7329932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7329932C>T	ENST00000333870.3	+	3	696	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Missense_Mutation_p.S95L	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	208						integral to membrane		p.Q208*(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CGGGTTTTATCAGAGAGCGGG	0.622000													18	47					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185831	127185831	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:127185831G>A	ENST00000371124.3	-	1	551	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	119						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGCTTTTCTCGAATTTCCCTA	0.493000													129	197					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045744	119045744	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:119045744C>T	ENST00000409109.1	+	6	2019	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	NLRX1_ENST00000409991.1_Silent_p.L478L|NLRX1_ENST00000525863.1_Silent_p.L478L|NLRX1_ENST00000409265.4_Silent_p.L478L|NLRX1_ENST00000292199.2_Silent_p.L478L			Q86UT6	NLRX1_HUMAN	NLR family member X1	478	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAGGTTTTTCCTGGCCCCATG	0.607000													13	39					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91781726	91781726	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:91781726G>A	ENST00000370425.3	-	27	3012	c.2914C>T	c.(2914-2916)Ccc>Tcc	p.P972S	HFM1_ENST00000294696.5_Missense_Mutation_p.P204S|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.P651S	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	972	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCAAAGGGGGGATGTCTGTTT	0.249000													8	28					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921603	159921603	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:159921603C>T	ENST00000368093.3	-	4	834	c.718G>A	c.(718-720)Gga>Aga	p.G240R	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.G149R	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	240						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGAGCAATCCCTTGGCCAGG	0.507000													22	20					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54020203	54020203	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:54020203G>A	ENST00000338154.6	-	13	1961	c.1457C>T	c.(1456-1458)tCc>tTc	p.S486F	PHF8_ENST00000338946.6_Intron|PHF8_ENST00000322659.8_Missense_Mutation_p.S486F|PHF8_ENST00000357988.5_Missense_Mutation_p.S522F	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	522					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ACCATTTTTGGAGGGCAGTGA	0.552000													23	42					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107847008	107847008	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:107847008C>T	ENST00000285311.3	-	2	1026	c.321G>A	c.(319-321)aaG>aaA	p.K107K	DKK2_ENST00000510463.1_Silent_p.K61K|DKK2_ENST00000513208.1_Silent_p.K7K	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	107	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGCAGCGCTTCTTTTTTCTCC	0.502000													25	63					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368606	111368606	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:111368606G>A	ENST00000428084.1	-	53	5924	c.5652C>T	c.(5650-5652)ccC>ccT	p.P1884P	DOCK4_ENST00000494651.2_Silent_p.P758P|DOCK4_ENST00000437633.1_Silent_p.P1875P			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1875	Pro-rich.		V -> M (in a prostate cancer cell line).		cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCACCGGCAGGGGGGCCGACT	0.632000													51	31					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350193	71350193	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:71350193C>T	ENST00000545866.1	-	1	1565	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.E400K			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	400	Glu-rich.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					tgtttcatttcctcttcctcc	0.473000													5	11					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500057	149500057	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:149500057G>A	ENST00000378016.2	+	0	7683							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCCATGTGGGAGGCCTGGG	0.667000													10	3					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983472	32983472	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:32983472C>T	ENST00000317907.4	+	13	1797	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	522							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGGAGTTGTCCCGGTACCGCA	0.502000													18	60					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54344371	54344371	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:54344371A>T	ENST00000072644.1	-	5	556	c.220T>A	c.(220-222)Tcc>Acc	p.S74T	YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.S99T	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	74						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CAGAAGGGGGAGCTTTTCTTC	0.408000													9	26					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823691	53823691	+	Missense_Mutation	SNP	G	G	A	rs137853104		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:53823691G>A	ENST00000257863.4	+	9	1297	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	AMHR2_ENST00000550311.1_Missense_Mutation_p.R406Q|AMHR2_ENST00000379791.3_Intron	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	406	Protein kinase.		R -> Q (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ATGGCCCTCCGACGAGCTGAT	0.587000													17	44					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145079081	145079081	+	Silent	SNP	G	G	A	rs147309348	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:145079081G>A	ENST00000367545.3	+	57	8451	c.8451G>A	c.(8449-8451)ccG>ccA	p.P2817P	UTRN_ENST00000480333.1_3'UTR|UTRN_ENST00000367526.4_Silent_p.P372P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2817	Interaction with SYNM.|WW.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCAGCTGCCGTGGCAAAGAT	0.348000													7	84					0	0	1	0	0
SAA1	6288	broad.mit.edu	37	11	18288488	18288488	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:18288488C>A	ENST00000405158.2	+	2	238	c.54C>A	c.(52-54)agC>agA	p.S18R	SAA1_ENST00000532858.1_Missense_Mutation_p.S18R|SAA1_ENST00000356524.4_Missense_Mutation_p.S18R	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	18					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GTGTCAGCAGCCGAAGCTTCT	0.512000													17	43					1.33834e-09	1.36539e-09	1	1	0
ABCC6	368	broad.mit.edu	37	16	16286700	16286700	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:16286700C>T	ENST00000205557.7	-	11	1447	c.1418G>A	c.(1417-1419)aGg>aAg	p.R473K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	473	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGGTGGTTCCTTTTCTTGGA	0.592000													14	24					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7836448	7836448	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7836448C>T	ENST00000380262.3	+	1	976	c.51C>T	c.(49-51)ctC>ctT	p.L17L	CNTROB_ENST00000380255.3_Silent_p.L17L|CNTROB_ENST00000563694.1_Silent_p.L17L|CNTROB_ENST00000565740.1_Silent_p.L17L	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	17					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CGGAGGATCTCCTGAGTGATT	0.587000													33	73					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759756	196759756	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:196759756C>T	ENST00000312428.6	-	30	4940	c.4840G>A	c.(4840-4842)Gga>Aga	p.G1614R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1614	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G1614R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAGTTTTTCCTCCAAATGGT	0.318000													7	21					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183824404	183824404	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:183824404G>A	ENST00000415389.2	+	9	1760	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	HTR3E_ENST00000335304.2_Missense_Mutation_p.D447N|HTR3E_ENST00000440596.2_Missense_Mutation_p.D458N|HTR3E_ENST00000425359.2_Missense_Mutation_p.D417N|HTR3E_ENST00000436361.2_Missense_Mutation_p.D432N	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	432						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCACGCGATGGACGCCATGCT	0.592000													37	69					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58566153	58566153	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:58566153C>T	ENST00000317147.5	-	41	6374	c.6042G>A	c.(6040-6042)caG>caA	p.Q2014Q	CNOT1_ENST00000569240.1_Silent_p.Q2009Q|CNOT1_ENST00000245138.4_Silent_p.Q865Q	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2014					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGTAAGTGTCTGGAAATTAA	0.378000													5	13					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121561114	121561114	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:121561114C>T	ENST00000395601.3	-	6	1635	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	SNTB1_ENST00000517992.1_Silent_p.G407G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	407	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GTGTTTCAATCCCTTGCCTGG	0.542000													28	28					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788500	10788500	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:10788500G>A	ENST00000283025.2	-	1	302	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	77					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GTGTGGGCAGGATGGTGGGCG	0.642000													32	71					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763093	110763093	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:110763093G>A	ENST00000451085.1	+	4	1311	c.265G>A	c.(265-267)Gac>Aac	p.D89N	IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D89N|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.D89N|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	89						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATACTCCACAGACTTTCCAGT	0.358000													32	31					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376656	78376656	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:78376656G>A	ENST00000255192.3	+	4	471	c.405G>A	c.(403-405)caG>caA	p.Q135Q	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	135	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TTCGACAACAGCTAGAAGTTT	0.413000													14	66					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729752	10729752	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:10729752G>A	ENST00000283025.2	-	6	1181	c.1110C>T	c.(1108-1110)gcC>gcT	p.A370A	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	370					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGTGTTCTCGGCCTGGAAGA	0.647000													66	111					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95278712	95278712	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:95278712G>A	ENST00000237853.4	-	2	538	c.189C>T	c.(187-189)ctC>ctT	p.L63L	ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Silent_p.L63L	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	63					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TCACCCCGTGGAGTCCTTGGA	0.328000													18	15					0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170342	39170342	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:39170342C>T	ENST00000301819.6	+	14	2016	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	TTC21A_ENST00000431162.2_Silent_p.F612F|TTC21A_ENST00000440121.1_Silent_p.F564F	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	612							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGAAAGTTCCTCAGGCCCT	0.542000													35	83					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128480230	128480230	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:128480230C>T	ENST00000322313.4	-	14	1611	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	485					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTTTTCTGATCCTTTTGCATC	0.408000													18	38					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34021795	34021795	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:34021795G>A	ENST00000374372.1	-	4	1921	c.1418C>T	c.(1417-1419)cCc>cTc	p.P473L	GDF5_ENST00000374369.3_Missense_Mutation_p.P473L|GDF5OS_ENST00000374375.1_5'UTR			P43026	GDF5_HUMAN	growth differentiation factor 5	473					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GATGCTGATGGGACTCAGCCG	0.582000													13	30					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540982	40540982	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:40540982C>T	ENST00000434248.1	-	5	1849	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R447Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATATGAAGTCGAAAGGCTTT	0.413000													18	71					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921998	24921998	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:24921998G>A	ENST00000329468.2	+	1	1458	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGCAAAAGGAAAATGTCGA	0.587000													33	42					0	0	1	0	0
GRP	2922	broad.mit.edu	37	18	56892859	56892859	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:56892859A>T	ENST00000256857.2	+	2	373	c.275A>T	c.(274-276)gAg>gTg	p.E92V	GRP_ENST00000529320.2_Missense_Mutation_p.E92V|GRP_ENST00000420468.2_Missense_Mutation_p.E92V	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	92					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GAAGCAAAGGAGAACAGAAAC	0.502000													37	69					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735952	13735952	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:13735952C>T	ENST00000265104.4	-	67	11649	c.11545G>A	c.(11545-11547)Ggc>Agc	p.G3849S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3849					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)					TCAAATAAGCCCAGAAACTGG	0.453000									Kartagener syndrome				30	115					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6870663	6870663	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:6870663G>A	ENST00000419673.2	+	6	626	c.409G>A	c.(409-411)Gtt>Att	p.V137I	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.V137I|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.V244I|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.V119I|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.V296I|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.V296I|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.V137I|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.V132I	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	119					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTCAGAAATGGTTACGGAGGC	0.333000													17	50					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35196464	35196464	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:35196464G>A	ENST00000274938.7	+	3	282	c.282G>A	c.(280-282)cgG>cgA	p.R94R	SCUBE3_ENST00000394681.1_Silent_p.R94R	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	94	EGF-like 2; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCAATTACCGGTGTACCTGCT	0.527000													16	47					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792432	23792432	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:23792432G>A	ENST00000354639.3	+	9	1509	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	STK31_ENST00000355870.3_Missense_Mutation_p.E372K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E372K|STK31_ENST00000428484.1_Missense_Mutation_p.E349K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	372							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTAAGATGGAAATACTGAA	0.343000													23	20					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64815118	64815118	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:64815118A>G	ENST00000332707.5	+	9	1476	c.947A>G	c.(946-948)aAg>aGg	p.K316R		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	316	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GGGGATATTAAGAATGCTCAA	0.353000													26	53					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52536606	52536606	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:52536606C>T	ENST00000261839.7	-	19	2498	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	779	IQ 1.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGGCTCGTCTCTCTCGGAGGA	0.478000													16	29					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77243765	77243765	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:77243765A>T	ENST00000341514.6	+	3	303	c.148A>T	c.(148-150)Att>Ttt	p.I50F	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.I50F	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	50	HMA 1.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAATGCAACTATTATTTATGA	0.353000													66	109					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3490915	3490915	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:3490915C>T	ENST00000301744.4	-	3	287	c.52G>A	c.(52-54)Gat>Aat	p.D18N	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ACAGCCAGATCCTCAAAGAGT	0.512000													15	29					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851826	134851826	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:134851826G>A	ENST00000398015.3	+	5	1602	c.1232G>A	c.(1231-1233)gGa>gAa	p.G411E	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	411	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCATCAATGGAGTCTCCAGC	0.592000													16	34					0	0	1	0	0
SOWAHD	347454	broad.mit.edu	37	X	118892730	118892730	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:118892730G>A	ENST00000343905.3	+	1	155	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	34																	CCCCTCGAGAGCGGACACTGG	0.746000													3	6					0	0	1	0	0
STPG1	90529	broad.mit.edu	37	1	24710415	24710415	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:24710415C>T	ENST00000374409.1	-	4	522	c.268G>A	c.(268-270)Gga>Aga	p.G90R	STPG1_ENST00000440416.1_Missense_Mutation_p.G43R|STPG1_ENST00000337248.4_Missense_Mutation_p.G90R|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.G43R	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1																		ATGCAAGTTCCTTTCTTGGAC	0.413000													36	79					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139697503	139697503	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:139697503G>A	ENST00000303045.6	-	38	3361	c.2915C>T	c.(2914-2916)cCt>cTt	p.P972L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P972L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	972	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGAGCACCAGGATCTCCCCT	0.592000										HNSCC(7;0.00092)			18	37					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203311508	203311508	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:203311508G>A	ENST00000354955.4	-	3	1557	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	365					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CAGGCAGAGGGGCGCGTCGGC	0.642000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	45					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71812989	71812989	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:71812989C>T	ENST00000373545.3	-	29	3520	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	PHKA1_ENST00000373539.3_Missense_Mutation_p.G1087R|PHKA1_ENST00000541944.1_Missense_Mutation_p.G998R|PHKA1_ENST00000339490.3_Missense_Mutation_p.G1057R|PHKA1_ENST00000373542.4_Missense_Mutation_p.G1070R			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1070					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGATAAAATCCAACTGGAACT	0.428000													32	57					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538698	122538698	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:122538698G>T	ENST00000264357.5	+	10	1725	c.1433G>T	c.(1432-1434)gGg>gTg	p.G478V	GRIA3_ENST00000541091.1_Missense_Mutation_p.G462V|GRIA3_ENST00000371251.1_Missense_Mutation_p.G478V|GRIA3_ENST00000371256.5_Missense_Mutation_p.G478V|GRIA3_ENST00000542149.1_Missense_Mutation_p.G478V	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	478					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GTTGGTGACGGGAAATATGGT	0.403000													44	72					3.54561e-26	3.64182e-26	1	1	0
SLC51A	200931	broad.mit.edu	37	3	195953985	195953985	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:195953985C>T	ENST00000296327.5	+	3	492	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		GAGCTCGGCACCCACGGTGAG	0.587000													25	62					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89157052	89157052	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:89157052G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							GGAGTTACCCGATTGGAGGGC	0.532000													12	18					0	0	1	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610588	106610588	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:106610588C>T	ENST00000390603.2	-	0	161																											ACCAAGCCTCCCCCAGACTCC	0.557000													24	98					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71380130	71380130	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:71380130G>A	ENST00000392650.3	-	33	4590	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	SDK2_ENST00000388726.3_Silent_p.I1530I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1530	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGATGCCATTGATCTTGTCCT	0.622000													6	16					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105241281	105241281	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:105241281G>A	ENST00000554581.1	-	6	2107	c.627C>T	c.(625-627)ttC>ttT	p.F209F	AKT1_ENST00000554848.1_Silent_p.F209F|AKT1_ENST00000402615.2_Silent_p.F209F|AKT1_ENST00000544168.1_Silent_p.F147F|AKT1_ENST00000407796.2_Silent_p.F209F|AKT1_ENST00000349310.3_Silent_p.F209F|AKT1_ENST00000555528.1_Silent_p.F209F			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	209	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCACTGTGAGGAAGGGGTGCC	0.647000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								10	47					0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769391	118769391	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:118769391C>T	ENST00000334801.3	-	8	5197	c.4233G>A	c.(4231-4233)atG>atA	p.M1411I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1411					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATGGGGCACCATCCCCTGCT	0.662000													12	30					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24524843	24524843	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:24524843G>A	ENST00000355123.4	-	10	1429	c.986C>T	c.(985-987)cCa>cTa	p.P329L	ITSN2_ENST00000361999.3_Missense_Mutation_p.P329L|ITSN2_ENST00000406921.3_Missense_Mutation_p.P329L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	329	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAAAGATGGAGGAACAAG	0.428000													6	10					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492806	154492806	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:154492806C>T	ENST00000368482.4	+	5	1006	c.168C>T	c.(166-168)gaC>gaT	p.D56D	TDRD10_ENST00000368480.3_Silent_p.D56D	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	56	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCTAAAGGACTTCAACCCTC	0.438000													10	29					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139101930	139101930	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:139101930C>T	ENST00000280612.5	-	10	1410	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	377					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AGAGCATTATCATTGTCAAAG	0.443000													4	15					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908860	139908860	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:139908860C>T	ENST00000297183.6	+	29	6453	c.6329C>T	c.(6328-6330)cCc>cTc	p.P2110L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P2110L|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P493L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2110L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACATCACCCAGAATGGTT	0.458000													62	52					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109490036	109490036	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:109490036C>T	ENST00000295124.4	+	14	1883	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	608										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CAGAAACTTTCCAAAATCAAG	0.328000													3	9					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196300353	196300353	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:196300353C>T	ENST00000367433.5	-	18	2137	c.2036G>A	c.(2035-2037)gGa>gAa	p.G679E	KCNT2_ENST00000451324.2_Missense_Mutation_p.G290E|KCNT2_ENST00000367431.4_Missense_Mutation_p.G629E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G679E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	679						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGTGAACTTCCTATATATGG	0.323000													49	125					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115973154	115973154	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:115973154G>A	ENST00000251864.2	+	15	2034	c.1881G>A	c.(1879-1881)atG>atA	p.M627I	TDRD1_ENST00000369280.1_Missense_Mutation_p.M627I|TDRD1_ENST00000369281.2_Missense_Mutation_p.M570I|TDRD1_ENST00000369282.1_Missense_Mutation_p.M627I|TDRD1_ENST00000422662.1_Missense_Mutation_p.M231I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	627					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTGTCTCATGAAAAAACTTG	0.358000													13	32					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69681106	69681106	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:69681106C>T	ENST00000349945.1	+	5	1699	c.147C>T	c.(145-147)acC>acT	p.T49T	NFAT5_ENST00000566899.1_Silent_p.T49T|NFAT5_ENST00000567239.1_Silent_p.T143T|NFAT5_ENST00000393742.2_Silent_p.T49T|NFAT5_ENST00000432919.1_Silent_p.T143T|NFAT5_ENST00000354436.2_Silent_p.T125T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	125					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAGTTAACCAGTAACACAG	0.502000													28	67					0	0	1	0	0
NHEJ1	79840	broad.mit.edu	37	2	219941125	219941125	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:219941125T>A	ENST00000356853.5	-	8	1011	c.878A>T	c.(877-879)aAg>aTg	p.K293M	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Missense_Mutation_p.S290C	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	293					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ACCCCTTGGCTTCTTCCTCTT	0.483000								Non-homologous end-joining					12	15					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94487117	94487117	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:94487117G>A	ENST00000375708.3	-	9	1857	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.F413F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	553	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						AACAGTAGCTGAAGATCATGC	0.637000													21	62					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10359011	10359011	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:10359011C>T	ENST00000255381.2	-	19	2204	c.2094G>A	c.(2092-2094)agG>agA	p.R698R	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CACCGTTACACCTCAGCTGAT	0.483000													15	36					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29695641	29695641	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:29695641C>T	ENST00000397938.2	+	16	2050	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G	EWSR1_ENST00000414183.2_Silent_p.G582G|EWSR1_ENST00000406548.1_Silent_p.G576G|EWSR1_ENST00000332050.6_Silent_p.G504G|EWSR1_ENST00000331029.7_Silent_p.G539G|EWSR1_ENST00000332035.6_Silent_p.G521G	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	577	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAGAGGTGGCCTCATGGATC	0.632000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								13	21					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229918	112229918	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:112229918C>T	ENST00000261733.2	+	8	910	c.849C>T	c.(847-849)acC>acT	p.T283T	ALDH2_ENST00000416293.3_Silent_p.T236T	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	283					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGAGAGTGACCTTGGAGCTGG	0.567000			T	HMGA2	leiomyoma								21	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595707	179595707	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179595707G>A	ENST00000589042.1	-	60	17909	c.17685C>T	c.(17683-17685)ttC>ttT	p.F5895F	TTN_ENST00000591111.1_Silent_p.F5578F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.F4651F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5578	Ig-like 40.						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)			TTTGGACCTCGAAAGTATATT	0.388000													75	129					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19444355	19444355	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:19444355G>A	ENST00000375267.2	-	72	10594	c.10591C>T	c.(10591-10593)Ccc>Tcc	p.P3531S	UBR4_ENST00000375226.2_Missense_Mutation_p.P3507S|UBR4_ENST00000375254.3_Missense_Mutation_p.P3531S|UBR4_ENST00000375217.2_Missense_Mutation_p.P3524S|UBR4_ENST00000375218.3_5'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3531					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCAGGCAGGGATCGCTCTCC	0.463000													20	68					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106802816	106802816	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:106802816T>A	ENST00000369701.3	+	5	1185	c.958T>A	c.(958-960)Tac>Aac	p.Y320N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	320						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTGCAGCTCTACAGCTCCAT	0.473000													38	60					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11004091	11004091	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:11004091C>T	ENST00000324288.8	+	13	2996	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.R371W	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	955			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.R955W(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCTGCTGTTCGGGACCTAAA	0.557000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								8	12					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62849222	62849222	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:62849222C>T	ENST00000512091.1	+	18	3680	c.2933C>T	c.(2932-2934)tCa>tTa	p.S978L	LPHN3_ENST00000504896.1_Missense_Mutation_p.S978L|LPHN3_ENST00000514996.1_Missense_Mutation_p.S978L|LPHN3_ENST00000506700.1_Missense_Mutation_p.S978L|LPHN3_ENST00000506746.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000509896.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000545650.1_Missense_Mutation_p.S978L|LPHN3_ENST00000511324.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000514591.1_Missense_Mutation_p.S978L|LPHN3_ENST00000514157.1_Missense_Mutation_p.S978L|LPHN3_ENST00000507625.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000508946.1_Missense_Mutation_p.S978L|LPHN3_ENST00000507164.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000508693.1_Missense_Mutation_p.S1046L|LPHN3_ENST00000506720.1_Missense_Mutation_p.S1046L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	965					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTGAACATTCACGTAGGAAA	0.473000													41	63					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46542029	46542029	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:46542029G>A	ENST00000296142.3	+	2	911	c.339G>A	c.(337-339)agG>agA	p.R113R		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	113					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ACATCTCAAGGATCCTGAAAA	0.463000													25	64					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	131890529	131890529	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:131890529C>T	ENST00000403716.1	+	6	948	c.388C>T	c.(388-390)Cca>Tca	p.P130S	PLEKHB2_ENST00000234115.6_Missense_Mutation_p.P130S|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.P82S|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.P130S|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.P130S|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.P130S|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.P130S|PLEKHB2_ENST00000439822.2_Intron|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.P130S|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.P130S	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	130						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		TTCCTCACCTCCACCATACAC	0.602000													32	53					0	0	1	0	0
OR1B1	347169	broad.mit.edu	37	9	125391431	125391431	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:125391431G>A	ENST00000304833.3	-	1	421	c.384C>T	c.(382-384)atC>atT	p.I128I	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGGGGTCACAGATGGCCACAT	0.512000													17	20					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71124678	71124678	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:71124678G>A	ENST00000299213.8	-	3	1259	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	397					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCGCCAGTGGGGACTTTCTG	0.567000													17	53					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95142944	95142944	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:95142944C>T	ENST00000027335.3	-	17	2432	c.2308G>A	c.(2308-2310)Gga>Aga	p.G770R	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.G770R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	770	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AAACAACTTCCTTCCACACAA	0.458000													15	16					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245212	46245212	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:46245212C>T	ENST00000334344.6	+	15	3478	c.3306C>T	c.(3304-3306)gcC>gcT	p.A1102A	ARID2_ENST00000444670.1_Silent_p.A712A|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.A953A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1102	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATCAGGTGGCCAGTAACCAAG	0.532000			"""N, S, F"""		hepatocellular carcinoma								21	53					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939633	72939633	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:72939633G>A	ENST00000553530.1	+	9	797	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	RGS6_ENST00000402788.2_Missense_Mutation_p.R197Q|RGS6_ENST00000555571.1_Missense_Mutation_p.R197Q|RGS6_ENST00000556437.1_Missense_Mutation_p.R197Q|RGS6_ENST00000343854.6_Missense_Mutation_p.R197Q|RGS6_ENST00000554782.1_Missense_Mutation_p.R58Q|RGS6_ENST00000406236.4_Missense_Mutation_p.R197Q|RGS6_ENST00000355512.6_Missense_Mutation_p.R197Q|RGS6_ENST00000553525.1_Missense_Mutation_p.R197Q|RGS6_ENST00000407322.4_Missense_Mutation_p.R197Q|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000404301.2_Missense_Mutation_p.R197Q|RGS6_ENST00000434263.2_Missense_Mutation_p.R128Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	197					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGTCAAGAACGAGCCTTTTGG	0.358000													41	94					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143082665	143082665	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:143082665C>T	ENST00000367603.2	-	8	6298	c.5556G>A	c.(5554-5556)atG>atA	p.M1852I	HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1852I|HIVEP2_ENST00000367604.1_Missense_Mutation_p.M1852I	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGCATTTTTTCATGTGTGCTT	0.358000													45	94					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658830	113658830	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:113658830G>A	ENST00000358160.4	+	16	2281	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	GRAMD1C_ENST00000452134.2_Missense_Mutation_p.E326K|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E392K|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E430K|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	597						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCTCCAAGAAGAGAAATCTTT	0.368000													12	33					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4826968	4826968	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:4826968C>T	ENST00000381750.4	+	3	542	c.319C>T	c.(319-321)Cca>Tca	p.P107S	RCL1_ENST00000381732.3_Missense_Mutation_p.P107S	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	107					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TTGCTTGGCTCCATTTATGAA	0.458000													18	62					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80730315	80730315	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:80730315G>A	ENST00000458043.2	+	39	4702	c.4696G>A	c.(4696-4698)Gaa>Aaa	p.E1566K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1554K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGCTCATATCGAAAAATGTTC	0.333000													9	31					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103927	53103927	+	Missense_Mutation	SNP	G	G	A	rs1689291		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:53103927G>A	ENST00000408890.4	+	1	579	c.563G>A	c.(562-564)gGa>gAa	p.G188E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	188			G -> E (in dbSNP:rs1689291).							endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCCAAGGGAAGCGCTAGG	0.716000													53	58					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056901	23056901	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:23056901C>T	ENST00000221132.3	-	8	956	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	298					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CTCAGAATCTCGTTGTGAGCA	0.562000													22	41					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951754	30951754	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:30951754A>T	ENST00000402321.1	-	3	775	c.458T>A	c.(457-459)gTg>gAg	p.V153E	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V153E|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V153E|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V153E|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V153E|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V153E|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V153E			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	153					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTTGGTCGGCACCAGGCCGCG	0.647000													44	82					0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62545519	62545519	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:62545519C>T	ENST00000294168.3	+	4	505	c.304C>T	c.(304-306)Cct>Tct	p.P102S	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	102					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						ACTCTACTTTCCTGAGGATCG	0.607000													19	37					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169145661	169145661	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:169145661G>A	ENST00000256935.8	+	22	2213	c.2132_splice	c.e22-1	p.K711_splice	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.K203_splice	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	711					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTTATTCAGGAAATTGATGA	0.378000													35	33					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23632749	23632749	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:23632749G>A	ENST00000415083.2	-	5	501	c.446C>T	c.(445-447)tCc>tTc	p.S149F	SS18_ENST00000539849.1_Missense_Mutation_p.S67F|SS18_ENST00000542743.1_Missense_Mutation_p.S97F|SS18_ENST00000542420.2_Missense_Mutation_p.S126F|SS18_ENST00000545952.1_Missense_Mutation_p.S97F|SS18_ENST00000269137.7_Missense_Mutation_p.S149F|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	149	Transcriptional activation.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					CATATTCATGGAACTGTTTGT	0.418000			T	"""SSX1,  SSX2"""	synovial sarcoma								31	71					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777129	47777129	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:47777129C>T	ENST00000398545.4	-	5	1112	c.996_splice	c.e5+1	p.R332_splice		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	332										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATGTCTTACTCTTTTTTGTTT	0.428000													29	77					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082726	75082726	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:75082726C>T	ENST00000310715.3	-	10	1237	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	TTC18_ENST00000394865.1_Missense_Mutation_p.E373K|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.E373K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	373							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTACCTTTTCATGGACTACA	0.338000													12	28					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301462	62301462	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:62301462G>A	ENST00000378024.4	-	5	701	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	143					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)				GTCTCCCCGAGGTCTCCTTCC	0.577000													22	44					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136379824	136379824	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:136379824C>T	ENST00000339996.3	-	5	701	c.600G>A	c.(598-600)aaG>aaA	p.K200K		NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	200						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						ATCCAGCCTTCTTGTTGACCT	0.632000													19	43					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52921727	52921727	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:52921727C>T	ENST00000354452.3	-	15	1962		c.e15+1		TCF4_ENST00000561992.1_Splice_Site|TCF4_ENST00000566279.1_Splice_Site|TCF4_ENST00000568740.1_Splice_Site|TCF4_ENST00000537856.3_Splice_Site|TCF4_ENST00000568673.1_Splice_Site|TCF4_ENST00000540999.1_Splice_Site|TCF4_ENST00000543082.1_Splice_Site|TCF4_ENST00000570287.2_Splice_Site|TCF4_ENST00000356073.4_Splice_Site|TCF4_ENST00000564999.1_Splice_Site|TCF4_ENST00000564403.2_Splice_Site|TCF4_ENST00000457482.3_Splice_Site|TCF4_ENST00000565018.2_Splice_Site|TCF4_ENST00000398339.1_Splice_Site|TCF4_ENST00000561831.3_Splice_Site|TCF4_ENST00000537578.1_Splice_Site|TCF4_ENST00000570177.2_Splice_Site|TCF4_ENST00000567880.1_Splice_Site|TCF4_ENST00000544241.2_Splice_Site|TCF4_ENST00000564228.1_Splice_Site|TCF4_ENST00000566286.1_Splice_Site	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACTTACCATGAGTGAA	0.378000													9	18					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768260	127768260	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:127768260G>T	ENST00000483725.3	-	5	1540	c.1204C>A	c.(1204-1206)Cat>Aat	p.H402N	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATCAGGATGAGATTTAGCA	0.438000													26	52					6.32553e-13	6.46211e-13	1	1	0
ICT1	3396	broad.mit.edu	37	17	73016465	73016465	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:73016465C>T	ENST00000301585.5	+	4	354	c.341C>T	c.(340-342)cCc>cTc	p.P114L		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	114					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					ATCGCGGAGCCCGTGCGGCAG	0.517000													15	31					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381031	147381031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:147381031C>T	ENST00000240986.4	+	2	1002	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	GJA8_ENST00000369235.1_Nonsense_Mutation_p.Q317*	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.Q317E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGGGGCTACCAAGAGACACT	0.627000													8	12					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327597	21327597	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:21327597G>A	ENST00000256958.2	+	4	409	c.313G>A	c.(313-315)Gga>Aga	p.G105R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	105					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTCATTATGGGAATTGGAGG	0.348000													12	30					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186389556	186389556	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:186389556G>A	ENST00000232003.4	+	4	616	c.536G>A	c.(535-537)cGa>cAa	p.R179Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	179	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		AGAGTGGACCGAATCGAGAGA	0.493000													22	36					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39785631	39785631	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:39785631G>A	ENST00000518237.1	+	10	1778	c.1139G>A	c.(1138-1140)gGa>gAa	p.G380E	IDO1_ENST00000522495.1_Missense_Mutation_p.G380E|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	380					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAAGGAACTGGAGGCACTGAT	0.418000													5	16					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057142	53057142	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:53057142C>T	ENST00000359798.4	+	5	1153	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAAGGTCTTTCGTCAAAATTC	0.393000													41	59					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537474	27537474	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:27537474G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGTTGTCAGAGGATTGCGATT	0.368000													17	64					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39950576	39950576	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:39950576C>T	ENST00000599117.1	+	11	967	c.600C>T	c.(598-600)ttC>ttT	p.F200F	SUPT5H_ENST00000598725.1_Silent_p.F200F|SUPT5H_ENST00000432763.2_Silent_p.F200F|SUPT5H_ENST00000402194.2_Silent_p.F196F|SUPT5H_ENST00000359191.6_Silent_p.F196F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	200	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCGCAAGTTCATTGCCTACC	0.542000													19	32					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694818	219694818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:219694818C>T	ENST00000439262.2	-	4	536	c.441G>A	c.(439-441)tgG>tgA	p.W147*	PRKAG3_ENST00000529249.1_Nonsense_Mutation_p.W172*|PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000392098.3_Nonsense_Mutation_p.W172*	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	172					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGTCATCCCAGCCCAGCT	0.612000													30	58					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290620	184290620	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:184290620C>T	ENST00000330394.2	+	3	964	c.512C>T	c.(511-513)gCc>gTc	p.A171V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	171						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGGCTGGATGCCGGCCGTGTC	0.617000													26	48					0	0	1	0	0
TRBV6-9	28598	broad.mit.edu	37	7	142104302	142104302	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:142104302G>A	ENST00000390379.1	-	0	162																											GGGTCTTGTCGATACCAGGAC	0.507000													46	150					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105800118	105800118	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:105800118C>T	ENST00000353479.5	-	40	3042	c.2752G>A	c.(2752-2754)Gga>Aga	p.G918R	COL17A1_ENST00000369733.3_Missense_Mutation_p.G918R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	918	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTGGTCTCCCTTGGGACCT	0.537000													35	65					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939932	12939932	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:12939932G>A	ENST00000218032.6	+	2	2860	c.2773G>A	c.(2773-2775)Gga>Aga	p.G925R	TLR8_ENST00000311912.5_Missense_Mutation_p.G943R	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	925	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGGATCCGGGATTGGCCAT	0.433000													26	69					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101348357	101348357	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:101348357C>T	ENST00000534062.1	-	1	2827	c.2769G>A	c.(2767-2769)aaG>aaA	p.K923K		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	923										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TTGGAAGAATCTTCATCTCCG	0.537000													14	22					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350248	56350248	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:56350248C>T	ENST00000340482.3	-	9	1925	c.1749G>A	c.(1747-1749)atG>atA	p.M583I	MPO_ENST00000225275.3_Missense_Mutation_p.M551I			P05164	PERM_HUMAN	myeloperoxidase	551					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CAGGGGTGGCCATGAGGCCCC	0.582000													50	107					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74328100	74328100	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:74328100C>T	ENST00000409262.3	+	9	3780	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1260							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAACAGATCCATCAAGCAAG	0.602000													6	17					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47164306	47164306	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:47164306G>A	ENST00000409792.3	-	3	1862	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCTCTTTCAGGATTTTTATT	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								9	14					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166166959	166166959	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:166166959G>A	ENST00000357398.3	+	7	1114	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R275Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.R275Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R275Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	275					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGCAACCTACGAAATAAATGT	0.378000													27	67					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6080691	6080691	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:6080691C>G	ENST00000409021.3	-	8	1726	c.1277G>C	c.(1276-1278)cGa>cCa	p.R426P	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R426P|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R261P|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R426P	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	426	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTTTTCCCTCGATGCCTTTT	0.572000													6	18					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158497733	158497733	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:158497733G>A	ENST00000355585.4	+	17	2443	c.2368G>A	c.(2368-2370)Gat>Aat	p.D790N	SYNJ2_ENST00000367122.2_Missense_Mutation_p.D790N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D790N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	790							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCCGCCTACGATACAAGCGA	0.512000													25	40					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607989	68607989	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:68607989G>A	ENST00000234313.7	+	3	512	c.333G>A	c.(331-333)agG>agA	p.R111R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	111					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTTGCCAGGAAATCTACCA	0.463000													42	107					0	0	1	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390473	38390473	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:38390473C>T	ENST00000329553.2	+	4	749	c.539C>T	c.(538-540)tCc>tTc	p.S180F	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		CAAGGTGTCTCCTCAAGGGGT	0.637000													16	47					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16068431	16068431	+	Silent	SNP	A	A	T	rs149251801		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:16068431A>T	ENST00000268712.3	-	5	737	c.480T>A	c.(478-480)atT>atA	p.I160I	NCOR1_ENST00000395851.1_Silent_p.I160I|NCOR1_ENST00000395848.1_Silent_p.I51I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	160	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTGCCCCGAAATTGGAGAGG	0.388000													14	69					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845440	123845440	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:123845440G>A	ENST00000369005.1	+	4	3765	c.3425G>A	c.(3424-3426)gGa>gAa	p.G1142E	TACC2_ENST00000453444.2_Missense_Mutation_p.G1142E|TACC2_ENST00000334433.3_Missense_Mutation_p.G1142E|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G1142E|TACC2_ENST00000515273.1_Missense_Mutation_p.G1142E	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1142						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGACCCAGGAAAGCAGCAG	0.587000													15	30					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747767	116747767	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:116747767C>T	ENST00000331677.3	+	4	891	c.447C>T	c.(445-447)gtC>gtT	p.V149V	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000452085.3_Silent_p.V149V|DSE_ENST00000537543.1_Silent_p.V168V|DSE_ENST00000359564.2_Silent_p.V149V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	149					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGGATGAGGTCCCGCTTGCTC	0.443000													32	44					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202326	56202326	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:56202326G>A	ENST00000361673.3	-	5	5306	c.5093C>T	c.(5092-5094)tCg>tTg	p.S1698L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1698							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGTCCCTGGCGATTTGCCTGC	0.552000													27	54					0	0	1	0	0
NBPF18P	441908	broad.mit.edu	37	1	151993740	151993740	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:151993740C>T	ENST00000432386.1	+	0	2575					NR_103561.1																						CTCATTGAATCAGCATCTCCA	0.552000													20	37					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11414215	11414215	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:11414215G>A	ENST00000259089.4	+	9	1413	c.821G>A	c.(820-822)gGa>gAa	p.G274E	BLK_ENST00000529894.1_Missense_Mutation_p.G203E|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	274	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CTGAAGGAGGGAACCATGTCT	0.557000													21	41					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:142168486G>A	ENST00000454561.2	-	0	437																											ATCTAGGAGGGAAGTTTCCTC	0.527000													68	58					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44447416	44447416	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:44447416G>A	ENST00000356836.6	+	3	1159	c.369G>A	c.(367-369)agG>agA	p.R123R	B4GALT2_ENST00000434555.2_Silent_p.R57R|B4GALT2_ENST00000372324.1_Silent_p.R123R|B4GALT2_ENST00000309519.7_Silent_p.R152R	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	123					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGGTGCAGAGGGAGAACCCAG	0.632000													32	52					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703916	7703916	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:7703916C>T	ENST00000340209.4	+	9	1169	c.872C>T	c.(871-873)gCg>gTg	p.A291V	RBFOX1_ENST00000547338.1_Missense_Mutation_p.A286V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A306V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A329V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A329V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A243V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A259V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A306V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A303V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A306V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A286V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	286					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCAgggccgcggcgcccccg	0.751000													12	21					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281594	103281594	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:103281594G>A	ENST00000233969.2	+	3	931	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	263						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGCCAGATGAAAACCATTG	0.463000													40	93					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19432039	19432039	+	Missense_Mutation	SNP	C	C	T	rs35499596		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:19432039C>T	ENST00000328405.2	+	6	1144	c.878C>T	c.(877-879)tCa>tTa	p.S293L	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	293						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAAGCAAGATCAATTTGCATC	0.373000													33	46					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195778	3195778	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:3195778G>A	ENST00000323404.1	-	1	98	c.99C>T	c.(97-99)ctC>ctT	p.L33L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CAAAGAGGAAGAGCACAAAGA	0.577000													33	60					0	0	1	0	0
N6AMT1	29104	broad.mit.edu	37	21	30248736	30248736	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:30248736G>T	ENST00000303775.5	-	6	641	c.616C>A	c.(616-618)Ctt>Att	p.L206I	N6AMT1_ENST00000351429.3_Missense_Mutation_p.L178I	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	206					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AGGACTGAAAGAGTTTCTTGG	0.363000													15	41					9.7654e-05	9.85655e-05	1	1	0
ANKRD26	22852	broad.mit.edu	37	10	27326901	27326901	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:27326901C>T	ENST00000376087.4	-	22	2623	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E836K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E377K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	819						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATTGCTCTTCTTTTCTTCTT	0.333000													9	26					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200865	3200865	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:3200865G>A	ENST00000520002.1	-	24	4140	c.3585C>T	c.(3583-3585)ttC>ttT	p.F1195F	CSMD1_ENST00000400186.3_Silent_p.F1195F|CSMD1_ENST00000602723.1_Silent_p.F1195F|CSMD1_ENST00000537824.1_Silent_p.F1194F|CSMD1_ENST00000542608.1_Silent_p.F1194F|CSMD1_ENST00000602557.1_Silent_p.F1195F|CSMD1_ENST00000539096.1_Silent_p.F1194F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1195	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTGGTGTTGAACTCTAGCC	0.428000													4	42					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549633	50549633	+	Missense_Mutation	SNP	C	C	T	rs146086803	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:50549633C>T	ENST00000595661.1	+	6	2428	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.P633S|ZNF473_ENST00000391821.2_Missense_Mutation_p.P645S|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.P645S			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	645					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAAGGAGCACCCTTTTAAATG	0.448000													14	24					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973736	29973736	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:29973736C>T	ENST00000378993.1	+	11	2563	c.1890C>T	c.(1888-1890)taC>taT	p.Y630Y	IL1RAPL1_ENST00000302196.4_Silent_p.Y630Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	630	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.Y630Y(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCTATGAGTACGACGTACCTC	0.517000													14	13					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039083	11039083	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:11039083C>T	ENST00000470054.1	-	0	1120									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATCTTCTTTCTGTTCCTTTT	0.408000													19	298					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131733216	131733216	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:131733216C>T	ENST00000372577.2	+	11	1113	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	364					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTCCAGTCCCTTGCCAGTG	0.493000													39	77					0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21560317	21560317	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:21560317C>T	ENST00000524240.1	-	7	1868	c.1218_splice	c.e7+1	p.Q406_splice	GFRA2_ENST00000400782.4_Splice_Site_p.Q301_splice|GFRA2_ENST00000517328.1_Splice_Site_p.Q406_splice|GFRA2_ENST00000518077.1_Splice_Site_p.Q273_splice	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	406						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACACCCTCACCTGGACAGACG	0.627000													12	12					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955792	113955792	+	Missense_Mutation	SNP	G	G	A	rs143027025		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:113955792G>A	ENST00000482457.2	-	1	633	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	44						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R44C(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTCCCCTCACGAACCAAAGTG	0.488000													18	30					0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17072974	17072974	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:17072974G>A	ENST00000357277.3	+	8	1186	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	REPS2_ENST00000303843.7_Missense_Mutation_p.E338K|REPS2_ENST00000380064.4_Missense_Mutation_p.E199K	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	339	EF-hand.|EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GACCCTGCCTGAGTTCTGTGC	0.522000													32	47					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231304	42231304	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:42231304C>T	ENST00000541110.1	-	8	2206	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	TRERF1_ENST00000372922.4_Silent_p.E546E|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	546	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTCTCCTTCCTCCTACACAG	0.607000													12	36					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535590	130535590	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:130535590G>A	ENST00000532763.1	-	3	290	c.161C>T	c.(160-162)gCt>gTt	p.A54V	SAMD3_ENST00000324172.6_Missense_Mutation_p.A54V|SAMD3_ENST00000368134.2_Missense_Mutation_p.A54V|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.A78V|SAMD3_ENST00000437477.2_Missense_Mutation_p.A54V|SAMD3_ENST00000439090.2_Missense_Mutation_p.A54V			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	54	SAM.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCAGAACAGCCTGGTGCCC	0.433000													18	39					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77914846	77914846	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:77914846C>T	ENST00000553888.1	-	7	1005	c.495G>A	c.(493-495)cgG>cgA	p.R165R	VIPAS39_ENST00000557658.1_Silent_p.R165R|VIPAS39_ENST00000556412.1_Silent_p.R191R|VIPAS39_ENST00000448935.2_Silent_p.R116R|VIPAS39_ENST00000343765.2_Silent_p.R165R|VIPAS39_ENST00000327028.4_Silent_p.R152R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCTTGCCCTTCCGGAGACGTC	0.448000													22	54					0	0	1	0	0
VBP1	7411	broad.mit.edu	37	X	154464596	154464596	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:154464596C>T	ENST00000286428.5	+	5	588	c.471C>T	c.(469-471)tcC>tcT	p.S157S	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Silent_p.S152S	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	157					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTTGATTCCCTGGAGGAAG	0.363000													25	56					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982788	36982788	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:36982788G>A	ENST00000274963.8	+	8	1174	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	335	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCGCCGCAACGACCCCATGGA	0.622000													13	27					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32032746	32032746	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:32032746C>T	ENST00000375244.3	-	19	6894	c.6693G>A	c.(6691-6693)ggG>ggA	p.G2231G	TNXB_ENST00000375247.2_Silent_p.G2231G			P22105	TENX_HUMAN	tenascin XB	2303	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTCCCCATTCTTAA	0.602000													10	19					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566712	4566712	+	Missense_Mutation	SNP	G	G	T	rs145962402	by1000genomes	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:4566712G>T	ENST00000360213.1	+	1	292	c.292G>T	c.(292-294)Gcc>Tcc	p.A98S		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTGGACGCCTGCTTGGG	0.517000													20	45					3.08376e-08	3.13343e-08	1	1	0
TECTA	7007	broad.mit.edu	37	11	121033040	121033040	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:121033040G>A	ENST00000392793.1	+	16	5504	c.5233G>A	c.(5233-5235)Ggg>Agg	p.G1745R	TECTA_ENST00000264037.2_Missense_Mutation_p.G1745R			O75443	TECTA_HUMAN	tectorin alpha	1745					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCGCTCCTTCGGGATCCTTAG	0.517000													14	22					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50615941	50615941	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:50615941G>A	ENST00000395842.2	+	2	800	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PANX2_ENST00000159647.5_Missense_Mutation_p.G267E	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	267					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCCCCGGACGGGGCGGCAGGT	0.692000													7	23					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2777965	2777965	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:2777965C>T	ENST00000397461.1	+	4	506	c.122C>T	c.(121-123)tCt>tTt	p.S41F	CNTN4_ENST00000427331.1_Missense_Mutation_p.S41F|CNTN4_ENST00000418658.1_Missense_Mutation_p.S41F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	41	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCTTTGGATTCTGAGGAGAAA	0.363000													20	44					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239616	31239616	+	Missense_Mutation	SNP	C	C	A	rs150810080	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:31239616C>A	ENST00000383329.3	-	2	117	c.103G>T	c.(103-105)Gcc>Tcc	p.A35S	HLA-C_ENST00000376228.5_Missense_Mutation_p.A35S			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	35	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGGACACGGCGGTGTCGAAA	0.721000													4	24					0.00909568	0.00911977	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7662772	7662772	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7662772G>A	ENST00000572933.1	+	16	3941	c.2481G>A	c.(2479-2481)cgG>cgA	p.R827R	DNAH2_ENST00000389173.2_Silent_p.R827R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	827	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACATGATTCGGCTGGACCGCA	0.522000													17	41					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948521	82948521	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:82948521G>A	ENST00000274341.4	-	3	1073	c.223C>T	c.(223-225)Cat>Tat	p.H75Y	HAPLN1_ENST00000514416.1_Missense_Mutation_p.H75Y	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	75	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CGGATTTTATGGATTCCTGAG	0.428000													53	58					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047141	42047141	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:42047141G>A	ENST00000372584.1	-	3	4342	c.3328C>T	c.(3328-3330)Cca>Tca	p.P1110S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1110S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1110S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1110S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1110				P -> A (in Ref. 1; AAK01082).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCCCCAATGGGGGCCTGTCC	0.622000													30	58					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56495319	56495319	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:56495319C>T	ENST00000267101.3	+	28	3949	c.3509C>T	c.(3508-3510)cCc>cTc	p.P1170L	ERBB3_ENST00000415288.2_Missense_Mutation_p.P1111L|ERBB3_ENST00000450146.2_Missense_Mutation_p.P527L|ERBB3_ENST00000553131.1_Missense_Mutation_p.P411L|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.P290L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1170					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)			CCAGGTACTCCCTCCTCCCGG	0.468000													22	43					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040340	193040340	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:193040340G>A	ENST00000342358.4	-	15	1815	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	566					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTTGCAGGAGTCTACAATGC	0.313000													23	43					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8536399	8536399	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:8536399G>A	ENST00000262648.3	-	8	1230	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	361	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTTTCTCCAGGATCACAGAA	0.428000													16	26					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675469	3675469	+	Missense_Mutation	SNP	G	G	A	rs138170063		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:3675469G>A	ENST00000344754.4	-	11	2784	c.2785C>T	c.(2785-2787)Cgt>Tgt	p.R929C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R929C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	929	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R929C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGATACCAACGATATGAGGTC	0.607000													25	35					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168449	64168449	+	Silent	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:64168449T>C	ENST00000395391.1	+	4	3142	c.1767T>C	c.(1765-1767)ttT>ttC	p.F589F	ZNF107_ENST00000423627.1_Silent_p.F589F|ZNF107_ENST00000344930.3_Silent_p.F589F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAAAGCTTTTAACCTATTCT	0.338000													18	57					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206628507	206628507	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:206628507C>T	ENST00000360409.3	+	13	2945	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	NRP2_ENST00000357118.4_Silent_p.F718F|NRP2_ENST00000272849.3_Silent_p.F718F|NRP2_ENST00000412873.2_Silent_p.F718F|NRP2_ENST00000357785.5_Silent_p.F718F|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000540178.1_Silent_p.F718F|NRP2_ENST00000540841.1_Silent_p.F718F	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	718	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCATGGAGTTCCAGTACCAGG	0.672000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	66					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362291	87362291	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:87362291G>A	ENST00000327946.7	-	16	2854	c.2769C>T	c.(2767-2769)acC>acT	p.T923T	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.T494T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	923						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)	CCGAGAGCTGGGTGTTCTGGT	0.642000										Multiple Myeloma(13;0.14)			14	32					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689800	109689800	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:109689800C>T	ENST00000277225.5	+	3	3896	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203W|ZNF462_ENST00000441147.2_Missense_Mutation_p.R48W			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TTATGGGAACCGGACGGTCAA	0.527000													143	278					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4826967	4826967	+	Silent	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:4826967T>C	ENST00000381750.4	+	3	541	c.318T>C	c.(316-318)gcT>gcC	p.A106A	RCL1_ENST00000381732.3_Silent_p.A106A	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	106					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TTTGCTTGGCTCCATTTATGA	0.453000													17	62					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997307	82997307	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:82997307G>A	ENST00000307792.3	-	17	2390	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	SEMA3E_ENST00000427262.1_Silent_p.F581F	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	641	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GTAACCTTAGGAAGAGTAAAC	0.418000													30	61					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414441	41414441	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:41414441G>A	ENST00000400454.1	-	32	6020	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1848					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTCCCTGCCGTCAACTGCTC	0.562000													35	104					0	0	1	0	0
IGLC7	28834	broad.mit.edu	37	22	23264809	23264809	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:23264809C>T	ENST00000390331.1	+	0	44																											TCCCACCCTCCTCTGAGGAGC	0.652000													5	75					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197407753	197407753	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:197407753G>A	ENST00000367397.1	+	6	2827	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CRB1_ENST00000544212.1_Missense_Mutation_p.E757K|CRB1_ENST00000367399.2_Missense_Mutation_p.E1164K|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367400.3_Missense_Mutation_p.E1276K|CRB1_ENST00000535699.1_Missense_Mutation_p.E1252K|CRB1_ENST00000538660.1_Missense_Mutation_p.E740K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1276	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAACTGCACAGAGTTCCAGAC	0.438000													17	50					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564652	176564652	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:176564652G>A	ENST00000367662.3	+	3	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D638N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	638	Metalloprotease.				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						CATGCTGAACGACTTTGACGA	0.602000													18	46					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704732	60704732	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:60704732C>T	ENST00000227880.3	-	8	1938	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	569					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GAGGCTGGGCCCTGGGACGCC	0.622000													13	24					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196619148	196619148	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:196619148C>T	ENST00000312428.6	-	63	11777	c.11677G>A	c.(11677-11679)Gcc>Acc	p.A3893T	DNAH7_ENST00000409063.1_Missense_Mutation_p.A376T	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3893					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTTCCTGGCGTAGTTCTGC	0.478000													20	40					0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	32983473	32983473	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:32983473C>T	ENST00000317907.4	+	13	1798	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	523							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGAGTTGTCCCGGTACCGCAG	0.502000													17	60					0	0	1	0	0
SAA1	6288	broad.mit.edu	37	11	18288489	18288489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:18288489C>T	ENST00000405158.2	+	2	239	c.55C>T	c.(55-57)Cga>Tga	p.R19*	SAA1_ENST00000532858.1_Nonsense_Mutation_p.R19*|SAA1_ENST00000356524.4_Nonsense_Mutation_p.R19*	NM_000331.4	NP_000322.2	P02735	SAA_HUMAN	serum amyloid A1	19					acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding			endometrium(1)|large_intestine(3)|lung(2)|stomach(3)	9					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCAGCAGCCGAAGCTTCTT	0.512000													17	43					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135957254	135957254	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:135957254C>T	ENST00000562646.1	-	8	1010	c.856G>A	c.(856-858)Gag>Aag	p.E286K	RBMX_ENST00000570135.1_Missense_Mutation_p.E151K|RBMX_ENST00000431446.3_Missense_Mutation_p.M177I|RBMX_ENST00000565438.1_Missense_Mutation_p.E158K|RBMX_ENST00000320676.7_Missense_Mutation_p.E286K			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	286						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCATAACTCTCATATGAATCT	0.398000													72	137					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5733938	5733938	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:5733938C>T	ENST00000381624.3	+	5	409	c.348C>T	c.(346-348)gtC>gtT	p.V116V	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	116						integral to membrane											ATCAAAAAGTCTATATTTATG	0.323000													8	27					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238263546	238263546	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:238263546G>A	ENST00000295550.4	-	24	7075	c.6623C>T	c.(6622-6624)gCt>gTt	p.A2208V	COL6A3_ENST00000409809.1_Missense_Mutation_p.A2002V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1601V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2002V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2007V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2008V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2208	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCACCTTAGCTCCGGGGGG	0.597000													9	17					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480591	123480591	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:123480591C>G	ENST00000371139.4	+	1	398	c.99C>G	c.(97-99)gaC>gaG	p.D33E	STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.D33E|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	33	SH2.		D -> Y (in XLP1).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGCTGAGGGACAGCGAGAGCG	0.597000													23	61					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023167	39023167	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:39023167C>T	ENST00000251643.4	-	1	295	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	91	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AAAGCTACCTCCACCCAGGGC	0.582000													43	130					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62364659	62364659	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:62364659C>T	ENST00000328969.5	+	3	800	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	ZGPAT_ENST00000369967.3_Silent_p.L225L|ZGPAT_ENST00000357119.4_Silent_p.L225L|ZGPAT_ENST00000355969.6_Silent_p.L225L|ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.L225L	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	225					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTCTGCGTGTCTGGCCAAGCA	0.677000													11	20					0	0	1	0	0
PIGA	5277	broad.mit.edu	37	X	15349434	15349434	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:15349434G>A	ENST00000333590.4	-	2	703	c.619C>T	c.(619-621)Cct>Tct	p.P207S	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	207					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ACAGCATTAGGAATGACGGAC	0.378000													21	37					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215812198	215812198	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:215812198C>T	ENST00000272895.7	-	48	7406	c.7187G>A	c.(7186-7188)aGa>aAa	p.R2396K	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.R2078K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2396	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGATAATTTTCTTTTTGTGCC	0.418000													25	67					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119730	3119730	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:3119730C>T	ENST00000304094.1	+	1	816	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ACGCAGTGATCACTGTAATGT	0.468000													40	102					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:3909561G>A	ENST00000450849.2	+	7	1192	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	ATCAY_ENST00000600960.1_Missense_Mutation_p.R242Q|ATCAY_ENST00000398448.3_Missense_Mutation_p.R248Q|ATCAY_ENST00000301260.6_Missense_Mutation_p.R242Q	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	242	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592000													12	19					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48453133	48453133	+	Silent	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:48453133A>G	ENST00000393271.2	+	2	646	c.564A>G	c.(562-564)acA>acG	p.T188T	EME1_ENST00000338165.4_Silent_p.T188T|EME1_ENST00000511648.2_Silent_p.T188T	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	188					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TAACCAAAACAAATTCTGACA	0.537000								Direct reversal of damage;Homologous recombination					17	36					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844492	123844492	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:123844492C>T	ENST00000369005.1	+	4	2817	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	TACC2_ENST00000453444.2_Missense_Mutation_p.S826F|TACC2_ENST00000334433.3_Missense_Mutation_p.S826F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.S826F|TACC2_ENST00000515273.1_Missense_Mutation_p.S826F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	826						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTACTATCTTCTGAGAAGCAT	0.557000													38	83					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171080110	171080110	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:171080110G>A	ENST00000367755.4	+	6	910	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	FMO3_ENST00000542847.1_Missense_Mutation_p.E247K|FMO3_ENST00000392085.2_Missense_Mutation_p.E267K|FMO3_ENST00000538429.1_Missense_Mutation_p.E204K	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	267					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCAAGCATGAAAACTATGG	0.438000													22	45					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380573	124380573	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:124380573G>A	ENST00000338354.3	+	41	5004	c.4897_splice	c.e41-1	p.G1633_splice	DMBT1_ENST00000368955.3_Splice_Site_p.G1623_splice|DMBT1_ENST00000330163.4_Splice_Site_p.G1005_splice|DMBT1_ENST00000368956.2_Splice_Site_p.G1005_splice|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Splice_Site_p.G1633_splice|DMBT1_ENST00000344338.3_Splice_Site_p.G1623_splice			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1633					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCCTGTAGGATCTGAATCC	0.517000													90	198					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	207945	207945	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:207945C>T	ENST00000246105.4	+	1	47	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	6					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTTTTTCCTATCTTTGC	0.498000													27	55					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44352673	44352673	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:44352673C>T	ENST00000279058.3	+	2	287	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	90	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GTGAAGTAGCCTGTGTTGCAA	0.388000													25	54					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26584709	26584709	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:26584709C>T	ENST00000436318.2	-	3	1012	c.879G>A	c.(877-879)acG>acA	p.T293T	MUC15_ENST00000455601.2_Silent_p.T266T|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Silent_p.T293T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	266						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AAAATGAATCCGTTTTCCTTT	0.398000													27	85					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39748973	39748973	+	Splice_Site	SNP	G	G	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:39748973G>C	ENST00000564288.1	+	8	1585	c.808_splice	c.e8+1	p.D270_splice	MACF1_ENST00000361689.2_Splice_Site_p.D275_splice|MACF1_ENST00000317713.7_Splice_Site_p.D275_splice|MACF1_ENST00000567887.1_Splice_Site_p.D307_splice|MACF1_ENST00000539005.1_Splice_Site_p.D275_splice|MACF1_ENST00000545844.1_Splice_Site_p.D275_splice|MACF1_ENST00000372915.3_Splice_Site_p.D275_splice			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	275	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGATGCAGAAGGTGAGAGGGA	0.453000													10	36					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971241	45971241	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:45971241G>A	ENST00000391621.1	-	1	147	c.101C>T	c.(100-102)cCc>cTc	p.P34L	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	34	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						ACAGCAGCTGGGGGTGCCGCA	0.697000													45	74					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168759	69168759	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:69168759C>T	ENST00000420581.2	-	2	926	c.747G>A	c.(745-747)agG>agA	p.R249R	LMOD3_ENST00000489031.1_Silent_p.R249R|LMOD3_ENST00000475434.1_Silent_p.R249R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	249						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GATCATTTTTCCTAACTCTCC	0.413000													34	61					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2777024	2777024	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:2777024G>A	ENST00000380605.2	-	9	1175	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	371	Poly-Leu.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATCAGGAGCAGAAGCAACTCC	0.637000													29	80					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78616858	78616858	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:78616858G>A	ENST00000434584.2	-	4	875	c.539C>T	c.(538-540)tCc>tTc	p.S180F	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.S224F	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	224	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAGGCGGAAGGACTTTCTGTT	0.428000													26	56					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538433	4538433	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:4538433G>A	ENST00000306390.6	-	2	1023	c.563C>T	c.(562-564)aCc>aTc	p.T188I	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	188						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		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)		GCGCAGGAGGGTGAAGTTGGC	0.622000													67	133					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683882	69683882	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:69683882A>G	ENST00000265403.7	+	2	881	c.854A>G	c.(853-855)aAa>aGa	p.K285R	UGT2B10_ENST00000458688.2_Missense_Mutation_p.K201R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	285					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AAACCTGCCAAACCCCTACCT	0.373000													53	142					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246686	80246686	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:80246686G>A	ENST00000286794.4	-	1	518	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	116	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AAGGCTGGCCGGTTACTCTTC	0.512000													9	37					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69718720	69718720	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:69718720C>T	ENST00000260363.4	+	9	1010	c.893C>T	c.(892-894)tCc>tTc	p.S298F	KIF23_ENST00000559279.1_Missense_Mutation_p.S298F|KIF23_ENST00000537891.1_Missense_Mutation_p.S115F|KIF23_ENST00000558585.1_Missense_Mutation_p.S115F|KIF23_ENST00000352331.4_Missense_Mutation_p.S298F|KIF23_ENST00000395392.2_Missense_Mutation_p.S298F	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	298	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AATCGTGAGTCCAGCCGTTCC	0.408000													64	129					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648674	169648674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:169648674C>T	ENST00000366787.3	-	4	696	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	149	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGACGTTCTTCCACTGCGAGT	0.637000													24	58					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111956160	111956160	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:111956160G>A	ENST00000377617.3	-	9	1699	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	ATXN2_ENST00000542287.2_Missense_Mutation_p.S248L|ATXN2_ENST00000550104.1_Missense_Mutation_p.S513L|ATXN2_ENST00000389153.4_Missense_Mutation_p.S248L|ATXN2_ENST00000535949.1_Missense_Mutation_p.S224L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	513					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATACGCGGTGAATTCTGTCT	0.438000													30	60					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87089238	87089238	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:87089238C>T	ENST00000441037.2	+	19	2648	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	AGBL1_ENST00000421325.2_Silent_p.F851F|AGBL1_ENST00000389298.3_Silent_p.F582F	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	851					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGTAGGTTTTCTGTGACTTCC	0.428000													3	15					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587294	55587294	+	Silent	SNP	C	C	T	rs145410438		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:55587294C>T	ENST00000333976.4	+	1	209	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCAAC	0.418000													53	104					0	0	1	0	0
PEX11B	8799	broad.mit.edu	37	1	145522632	145522632	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:145522632C>T	ENST00000369306.3	+	4	642	c.493C>T	c.(493-495)Cca>Tca	p.P165S	PEX11B_ENST00000537888.1_Missense_Mutation_p.P151S	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	165	Gly-rich.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGAGTCCCAGGAGGAAG	0.562000													23	34					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223075	115223075	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:115223075C>T	ENST00000369538.3	-	5	706	c.659G>A	c.(658-660)gGa>gAa	p.G220E	AMPD1_ENST00000353928.6_Missense_Mutation_p.G191E|AMPD1_ENST00000520113.2_Missense_Mutation_p.G224E	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	191					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGGTCCTCTCCCTTCTTCAC	0.408000													31	58					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19317801	19317801	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:19317801G>A	ENST00000461366.1	+	8	1131	c.916G>A	c.(916-918)Ggg>Agg	p.G306R		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	306							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAAGCATTATGGGATGGTGCC	0.582000													28	33					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776933	2776933	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:2776933G>A	ENST00000380605.2	-	9	1266	c.1202C>T	c.(1201-1203)cCc>cTc	p.P401L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	401					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTTCATGGAGGGCAGCAGGTG	0.612000													19	42					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413493	124413493	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:124413493G>A	ENST00000306842.2	-	1	82	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CGCAGTCCCGGCTGGTGGGTT	0.537000													16	50					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764529	19764529	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:19764529G>A	ENST00000397821.3	-	3	483	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.L28F|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.L65F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	65					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTGTTGGTGAGAGGGTCTTTC	0.393000													34	72					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199609	117199609	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:117199609C>T	ENST00000003084.6	+	11	1616	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	CFTR_ENST00000454343.1_Missense_Mutation_p.S434F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	495	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTCAGTTTTCCTGGATTATG	0.383000									Cystic Fibrosis				18	58					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997710	28997710	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:28997710C>T	ENST00000395456.2	+	5	575	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Missense_Mutation_p.P84S|LAT_ENST00000395461.3_Missense_Mutation_p.P121S|LAT_ENST00000360872.5_Missense_Mutation_p.P85S|LAT_ENST00000354453.4_Missense_Mutation_p.P85S|LAT_ENST00000566177.1_Missense_Mutation_p.P84S|LAT_ENST00000564277.1_Missense_Mutation_p.P84S|RP11-264B17.3_ENST00000569969.1_RNA	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	85					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CAGAAGATCCCCGCAGCCCCT	0.627000													31	71					0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109724553	109724553	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:109724553G>A	ENST00000355216.1	-	3	304	c.53C>T	c.(52-54)cCc>cTc	p.P18L	FOXN4_ENST00000299162.5_Intron			Q96NZ1	FOXN4_HUMAN	forkhead box N4	198					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CAGACAGCTGGGGGCAGGAGG	0.622000													6	8					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50128816	50128816	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:50128816C>T	ENST00000418929.2	+	14	6075	c.6063C>T	c.(6061-6063)tcC>tcT	p.S2021S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1200							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCTTTGACTCCTTCAGTGACC	0.672000													5	17					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059391	9059391	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:9059391C>T	ENST00000397910.4	-	3	28258	c.28055G>A	c.(28054-28056)aGa>aAa	p.R9352K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9354	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						GGTAGAAATTCTAGTGATGGT	0.517000													34	76					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564690	111564690	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:111564690C>T	ENST00000393934.3	+	4	1459	c.889C>T	c.(889-891)Cct>Tct	p.P297S	PHLDB2_ENST00000393923.3_5'UTR|PLCXD2_ENST00000477665.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCCAGTTTATCCTTTGAGATT	0.468000													12	45					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570764	570764	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:570764C>T	ENST00000262305.4	+	14	2584	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	RAB11FIP3_ENST00000450428.1_Silent_p.F436F|RAB11FIP3_ENST00000457159.1_Silent_p.F777F	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	732	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAACTTCCGCCTGCAGG	0.587000													19	44					0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41704656	41704656	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:41704656G>A	ENST00000373025.3	-	9	1163	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	367					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGACCTGAGGAAGACATCCC	0.592000													18	52					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413492	124413492	+	Missense_Mutation	SNP	G	G	A	rs138322592	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:124413492G>A	ENST00000306842.2	-	1	83	c.59C>T	c.(58-60)cCg>cTg	p.P20L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCGCAGTCCCGGCTGGTGGGT	0.537000													17	51					0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48458176	48458176	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:48458176G>A	ENST00000324324.7	-	5	758	c.479C>T	c.(478-480)aCt>aTt	p.T160I	MYEF2_ENST00000267836.6_Missense_Mutation_p.T160I	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	160	RRM 1.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTTGTTCATAGTTTCTAGGGC	0.274000													15	37					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230338950	230338950	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:230338950G>A	ENST00000366672.4	+	3	360	c.288G>A	c.(286-288)caG>caA	p.Q96Q	GALNT2_ENST00000543760.1_Silent_p.Q58Q|GALNT2_ENST00000541865.1_Silent_p.Q6Q	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	96					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GCTCCGGGCAGGACCCTTACG	0.552000													33	81					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70228120	70228120	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:70228120C>T	ENST00000342771.4	+	7	1328	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	AUTS2_ENST00000406775.2_Missense_Mutation_p.P336L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	336										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCCCACCTCTGAGTACA	0.687000													23	75					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253616	134253616	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:134253616G>A	ENST00000524765.1	-	3	5123	c.579C>T	c.(577-579)ttC>ttT	p.F193F	B3GAT1_ENST00000537389.1_Silent_p.F206F|B3GAT1_ENST00000312527.4_Silent_p.F193F|B3GAT1_ENST00000392580.1_Silent_p.F193F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	193					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTCGTCGGCGAAGTAGACCA	0.692000													8	7					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626605	187626605	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:187626605G>A	ENST00000304698.5	+	8	1739	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	512						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AAGATGAAAAGAGGTATCTCA	0.428000													9	16					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151792	87151792	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:87151792G>A	ENST00000285393.3	+	3	551	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	137					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCGTTTCACAGAAATGGAAGC	0.413000													22	44					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72332167	72332167	+	Silent	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:72332167T>C	ENST00000340595.3	+	10	1568	c.1372T>C	c.(1372-1374)Ttg>Ctg	p.L458L	SLC4A4_ENST00000425175.1_Silent_p.L502L|SLC4A4_ENST00000351898.6_Silent_p.L502L|SLC4A4_ENST00000264485.5_Silent_p.L502L|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.L458L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	502						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTAGGGCGTGTTGGAGAGTTT	0.408000													34	60					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983619	127983619	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:127983619C>T	ENST00000254730.6	+	4	835	c.781C>T	c.(781-783)Ctc>Ttc	p.L261F	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	261						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GATCCCTGCCCTCAAGGTCAG	0.572000													13	33					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716667	13716667	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:13716667C>T	ENST00000279593.3	-	13	3714	c.3505G>A	c.(3505-3507)Gga>Aga	p.G1169R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1169					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCCCTCCTCCGCTGACGGAG	0.592000													18	56					0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68882322	68882322	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:68882322G>A	ENST00000303786.3	+	3	1216	c.796G>A	c.(796-798)Gga>Aga	p.G266R	PROKR1_ENST00000394342.2_Missense_Mutation_p.G266R			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	266						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGCGGTCCCTGGATTCCAGAC	0.602000													20	37					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69262190	69262190	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:69262190C>T	ENST00000276101.3	-	6	699	c.694G>A	c.(694-696)Gat>Aat	p.D232N		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	232						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ATGTGCTGATCATAGAGGTCC	0.502000													8	44					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771468	143771468	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:143771468C>T	ENST00000408898.2	+	1	194	c.156C>T	c.(154-156)tcC>tcT	p.S52S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CACTGGACTCCAGACTCCACA	0.572000													45	50					0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79348011	79348011	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:79348011C>T	ENST00000233735.1	+	2	127	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	8					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTCATACTTCATGCTGATCT	0.463000													20	25					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46388858	46388858	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:46388858C>T	ENST00000454345.1	+	3	871	c.746C>T	c.(745-747)tCg>tTg	p.S249L	DGKZ_ENST00000395574.3_Missense_Mutation_p.S26L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000527911.1_Missense_Mutation_p.S60L|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.S60L|DGKZ_ENST00000532868.2_Missense_Mutation_p.S65L|DGKZ_ENST00000318201.8_Missense_Mutation_p.S60L|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000343674.6_Missense_Mutation_p.S77L|DGKZ_ENST00000421244.2_Missense_Mutation_p.S60L	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	249					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATCACCAAGTCGGGCCTCCAG	0.662000													17	21					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849225	98849225	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:98849225G>A	ENST00000554295.1	-	0	1698					NR_033801.1																						GGTGGATCTTGATCAGGGTCA	0.478000													7	8					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11446617	11446617	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:11446617G>A	ENST00000423059.3	-	21	4233	c.3982C>T	c.(3982-3984)Ctg>Ttg	p.L1328L	AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1328	TSP type-1 13.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGTCCATCAGGGAAGGGCAT	0.473000										HNSCC(18;0.044)			21	12					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564193	176564193	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:176564193G>A	ENST00000367662.3	+	3	2617	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E485K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	485	Metalloprotease.				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						CCAGGGCTTTGAGCCAGAGCC	0.527000													26	34					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264622	28264622	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:28264622C>T	ENST00000405948.2	+	5	1092	c.672C>T	c.(670-672)gcC>gcT	p.A224A	PGBD1_ENST00000259883.3_Silent_p.A224A	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	224					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGAAACAGCCCAGGCCGTTG	0.468000													18	55					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154065951	154065951	+	Missense_Mutation	SNP	C	C	T	rs137852360		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:154065951C>T	ENST00000360256.4	-	26	7177	c.6977G>A	c.(6976-6978)cGa>cAa	p.R2326Q	F8_ENST00000330287.6_Missense_Mutation_p.R191Q	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2326	F5/8 type C 2.		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGGTGAATTCGAAGGTAGCG	0.532000													9	19					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846292	133846292	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:133846292G>A	ENST00000367895.5	+	19	2203	c.1738_splice	c.e19-1	p.G580_splice	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000531901.1_Splice_Site_p.G586_splice|EYA4_ENST00000431403.2_Intron|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000355286.6_Splice_Site_p.G557_splice	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	580					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TATCTTCCAGGAAAAGAAAGT	0.403000													24	41					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41790106	41790106	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:41790106C>T	ENST00000266304.4	+	3	598	c.482C>T	c.(481-483)tCc>tTc	p.S161F	TEF_ENST00000406644.3_Missense_Mutation_p.S131F	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	161					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TTAGAATCTTCCCTGGAGAAG	0.572000													39	63					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194158160	194158160	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:194158160G>A	ENST00000439040.1	-	19	2670	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.P627S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	627					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAGAAAATGGGAACTGGCGA	0.433000													14	26					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109937516	109937516	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:109937516C>T	ENST00000218054.4	-	8	846	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	CHRDL1_ENST00000482160.1_Missense_Mutation_p.R138Q|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R217Q|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R138Q|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R211Q|CHRDL1_ENST00000444321.2_Missense_Mutation_p.R217Q|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R218Q	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	211					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TCCAGCCTGTCGGCTTGGTGG	0.483000													33	64					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54591317	54591317	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:54591317G>A	ENST00000254442.3	+	22	3902	c.3691G>A	c.(3691-3693)Gat>Aat	p.D1231N	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D1198N	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1231										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACTTTGTGCCGATGCCGAGAA	0.438000													41	76					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48690437	48690437	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:48690437C>T	ENST00000236495.5	+	2	254	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC5A9_ENST00000533824.1_Silent_p.F68F|SLC5A9_ENST00000438567.2_Silent_p.F68F|SLC5A9_ENST00000420136.2_Silent_p.F61F	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	68						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCGGCTATTTCCTGGCCGGGA	0.552000													23	52					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588251	247588251	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:247588251C>T	ENST00000366497.2	+	4	2286	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	NLRP3_ENST00000366496.2_Silent_p.F502F|NLRP3_ENST00000348069.2_Silent_p.F502F|NLRP3_ENST00000336119.3_Silent_p.F502F|NLRP3_ENST00000391827.2_Silent_p.F502F|NLRP3_ENST00000391828.3_Silent_p.F502F|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	502	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTCTGCTTTCCTGAGGATGA	0.498000													10	32					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917316	26917316	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:26917316G>A	ENST00000539517.2	-	5	1690	c.1373C>T	c.(1372-1374)tCc>tTc	p.S458F	NOVA1_ENST00000465357.2_Missense_Mutation_p.S434F|NOVA1_ENST00000267422.7_Missense_Mutation_p.S336F	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	461	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCCTTTTTTGGAGATCTGTAT	0.433000													9	23					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45654379	45654379	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:45654379G>A	ENST00000396659.3	-	9	1539	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S		NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	400					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CTCCTCCCAGGGAATTGGCAT	0.498000													12	33					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817138	55817138	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:55817138G>A	ENST00000313833.4	+	2	275	c.30G>A	c.(28-30)caG>caA	p.Q10Q	FBXO34_ENST00000555087.1_3'UTR|FBXO34_ENST00000440021.1_Silent_p.Q10Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	10										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGAAGCTCCAGAAGAAAGAGC	0.398000													12	23					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624746	624746	+	Silent	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:624746A>G	ENST00000321878.5	+	2	831	c.672A>G	c.(670-672)tcA>tcG	p.S224S	PIGQ_ENST00000470411.2_Silent_p.S224S|PIGQ_ENST00000026218.5_Silent_p.S224S|PIGQ_ENST00000409527.2_Silent_p.S224S	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	224	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCTGGTCTCAGCTGTCAGTG	0.667000													6	11					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66887642	66887642	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:66887642G>A	ENST00000269080.2	-	22	3149	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	ABCA8_ENST00000586539.1_Silent_p.I1044I|ABCA8_ENST00000430352.2_Silent_p.I1044I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1004						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TATAATCATCGATGCTGCTCA	0.348000													8	13					0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272773	48272773	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:48272773C>T	ENST00000229022.3	-	4	405	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	VDR_ENST00000395324.2_Missense_Mutation_p.E42K|VDR_ENST00000535672.1_5'UTR|VDR_ENST00000550325.1_Missense_Mutation_p.E92K|VDR_ENST00000549336.1_Missense_Mutation_p.E42K	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	42					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TTGCAGCCTTCACAGGTCATA	0.582000													24	39					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417804	40417804	+	Silent	SNP	G	G	A	rs147422951		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:40417804G>A	ENST00000333407.5	+	4	1384	c.1290G>A	c.(1288-1290)ggG>ggA	p.G430G	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	430										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CGGCCCGGGGGGAGGCCGCCC	0.667000													24	30					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50151465	50151465	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:50151465C>T	ENST00000347869.3	+	19	1875	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	567	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGTCAATTCCTTGAGGGAA	0.418000													13	31					0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2424652	2424652	+	Silent	SNP	C	C	T	rs2234282		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:2424652C>T	ENST00000333256.6	+	3	1232	c.789C>T	c.(787-789)ccC>ccT	p.P263P	TSSC4_ENST00000451491.2_Silent_p.P263P|TSSC4_ENST00000380996.5_Silent_p.P199P|TSSC4_ENST00000380992.1_Intron|TSSC4_ENST00000467308.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	263										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCGGGCCCGGGAGCCCAG	0.701000													15	16					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919400	51919400	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:51919400C>T	ENST00000353836.5	-	5	997	c.776G>A	c.(775-777)gGa>gAa	p.G259E	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G259E|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G176E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G201E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G201E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G259E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G211E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	259	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGGACATTTCCCTGGGGCTG	0.587000													7	8					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020968	5020968	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:5020968C>T	ENST00000321543.1	+	1	756	c.756C>T	c.(754-756)atC>atT	p.I252I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	252					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)		TGGTGCTTATCTTCTTTGTGC	0.448000													12	41					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20489966	20489966	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:20489966C>T	ENST00000573854.1	+	10	1362	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	ACSM2A_ENST00000417235.2_Silent_p.P337P|ACSM2A_ENST00000396104.2_Silent_p.P416P|ACSM2A_ENST00000219054.6_Silent_p.P416P|ACSM2A_ENST00000575690.1_Silent_p.P416P|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.P188P	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	416					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGTCAAACCCATCAGGCCTA	0.527000													20	28					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887652	9887652	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:9887652C>T	ENST00000306084.6	+	2	1375	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.S325S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	392	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCCCAAGTCCCTAGAGGAAG	0.557000													37	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179665387	179665387	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179665387G>A	ENST00000589042.1	-	4	542	c.318C>T	c.(316-318)ttC>ttT	p.F106F	TTN_ENST00000591111.1_Silent_p.F106F|TTN_ENST00000359218.5_Silent_p.F106F|TTN_ENST00000342992.6_Silent_p.F106F|TTN_ENST00000460472.2_Silent_p.F106F|TTN_ENST00000342175.6_Silent_p.F106F|TTN_ENST00000360870.5_Silent_p.F106F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	106	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F106F(4)		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)			GTCGTTGAACGAAGTTGGGTG	0.512000													20	49					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105990541	105990541	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:105990541G>A	ENST00000357060.3	-	2	241	c.126C>T	c.(124-126)taC>taT	p.Y42Y	WDR96_ENST00000278064.2_5'UTR|WDR96_ENST00000369719.1_5'UTR|WDR96_ENST00000369720.1_5'UTR|WDR96_ENST00000428666.1_Silent_p.Y42Y	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	42										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCACAAGGGTAGCAAATGG	0.363000													16	35					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139983450	139983450	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:139983450C>T	ENST00000371589.4	+	3	531	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	153					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCTGAGATTTCGTCACAGGTA	0.458000													29	64					0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36823669	36823669	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:36823669G>A	ENST00000373699.5	-	4	672	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	141	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						ATTCCCACGCGATTCACCATT	0.542000													34	61					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612745	20612745	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:20612745C>T	ENST00000333629.1	+	1	851	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284H(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTGATGAACCCTGTTATTTAT	0.408000													42	71					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052617	67052617	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:67052617C>T	ENST00000308595.5	+	20	2153	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	621	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTGCCTGCTCCTCAAGATCC	0.642000													87	164					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14029592	14029592	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:14029592C>T	ENST00000318003.7	+	9	1221	c.980C>T	c.(979-981)tCg>tTg	p.S327L	CC2D1A_ENST00000589606.1_Missense_Mutation_p.S327L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	327	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.S327L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCACCACCGTCGCAGCCTCCG	0.667000													33	69					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	514931	514931	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:514931C>A	ENST00000453061.2	+	7	1307	c.1201C>A	c.(1201-1203)Cta>Ata	p.L401I	PIGG_ENST00000296306.7_Intron|PIGG_ENST00000536264.1_Missense_Mutation_p.L279I|PIGG_ENST00000509768.1_Missense_Mutation_p.L312I|PIGG_ENST00000383028.4_Missense_Mutation_p.L268I|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.L312I|PIGG_ENST00000310340.5_Missense_Mutation_p.L401I	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	401					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTCAGAAGTCCTATTCAACCT	0.468000													18	50					4.96729e-08	5.04053e-08	1	1	0
THRB	7068	broad.mit.edu	37	3	24174881	24174881	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:24174881G>A	ENST00000396671.2	-	9	1159	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	THRB_ENST00000280696.5_Missense_Mutation_p.H286Y|THRB_ENST00000416420.1_Missense_Mutation_p.H271Y|THRB_ENST00000356447.4_Missense_Mutation_p.H271Y	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	271	Interaction with NR2F6.|Ligand-binding.				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)	TTTGTAAAATGGCTGAAGGCT	0.413000													14	26					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155241772	155241772	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:155241772G>T	ENST00000460012.1	-	11	1651	c.1294C>A	c.(1294-1296)Ctt>Att	p.L432I	PLCH1_ENST00000494598.1_Missense_Mutation_p.L450I|PLCH1_ENST00000447496.2_Missense_Mutation_p.L450I|PLCH1_ENST00000334686.6_Missense_Mutation_p.L432I|PLCH1_ENST00000340059.7_Missense_Mutation_p.L450I|PLCH1_ENST00000414191.1_Missense_Mutation_p.L432I			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	450	PI-PLC X-box.				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)			TCATCCCCAAGGTGATAAGGC	0.413000													46	109					1.07234e-20	1.09995e-20	1	1	0
TP63	8626	broad.mit.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:189612176G>A	ENST00000264731.3	+	14	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_ENST00000382063.4_Missense_Mutation_p.R558Q|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Missense_Mutation_p.R639Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552000										HNSCC(45;0.13)			31	59					0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41790107	41790107	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:41790107C>T	ENST00000266304.4	+	3	599	c.483C>T	c.(481-483)tcC>tcT	p.S161S	TEF_ENST00000406644.3_Silent_p.S131S	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	161					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TAGAATCTTCCCTGGAGAAGG	0.572000													39	64					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28424110	28424110	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:28424110G>A	ENST00000261609.7	-	59	9194	c.9086C>T	c.(9085-9087)tCc>tTc	p.S3029F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3029					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCCCGCTGGAAATGCCCAG	0.597000													37	60					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454920	187454920	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:187454920C>T	ENST00000307161.5	-	2	1177	c.976G>A	c.(976-978)Gac>Aac	p.D326N	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	326					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCGGCCACGTCGTTAGAGCTG	0.453000													40	67					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062801	46062801	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:46062801G>A	ENST00000309285.3	-	2	995	c.639C>T	c.(637-639)ttC>ttT	p.F213F	XCR1_ENST00000542109.1_Silent_p.F213F	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	213					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGCGTGAGCGGAACAGGGTCC	0.587000													20	34					0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159146577	159146577	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:159146577G>A	ENST00000297239.9	+	10	957	c.763G>A	c.(763-765)Gat>Aat	p.D255N	SYTL3_ENST00000367081.3_Intron|SYTL3_ENST00000360448.3_Missense_Mutation_p.D187N			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	255					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CAATCAAGAGGATCCCAAATG	0.423000													33	89					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647578	12647578	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:12647578C>T	ENST00000425538.1	+	8	996	c.796C>T	c.(796-798)Cac>Tac	p.H266Y	MYOCD_ENST00000395988.1_Missense_Mutation_p.H170Y|MYOCD_ENST00000343344.4_Missense_Mutation_p.H266Y	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	266					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTTAAATATCACCAGTACAT	0.517000													24	51					0	0	1	0	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:94113452G>A	ENST00000243673.2	-	4	1306	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	GPR83_ENST00000539203.2_Missense_Mutation_p.P337S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000													18	60					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	439323	439323	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:439323G>A	ENST00000432829.2	+	40	5270	c.4954G>A	c.(4954-4956)Ggc>Agc	p.G1652S	DOCK8_ENST00000453981.1_Missense_Mutation_p.G1720S|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1620S|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1187S	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1720	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGTGTGCGCAGGCCAGTACTT	0.602000													32	47					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38528955	38528955	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:38528955G>A	ENST00000332509.3	-	7	1143	c.960C>T	c.(958-960)gcC>gcT	p.A320A	PLA2G6_ENST00000335539.3_Silent_p.A320A|PLA2G6_ENST00000402064.1_Silent_p.A320A	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	320					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCACGTGCAGGGCCGTGTTCC	0.672000													3	3					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44678403	44678403	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:44678403C>T	ENST00000454036.1	+	17	2300	c.2224C>T	c.(2224-2226)Cat>Tat	p.H742Y	SLC12A5_ENST00000243964.3_Missense_Mutation_p.H719Y	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	742					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTGGAAAATCATCCACAGGC	0.577000													6	7					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121477936	121477936	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:121477936G>A	ENST00000260197.7	+	37	5232	c.5103G>A	c.(5101-5103)caG>caA	p.Q1701Q	SORL1_ENST00000534286.1_Silent_p.Q611Q|SORL1_ENST00000527934.1_Silent_p.Q316Q|SORL1_ENST00000532694.1_Silent_p.Q547Q|SORL1_ENST00000525532.1_Silent_p.Q645Q	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1701	Fibronectin type-III 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGCCTCCCAGAGGGCTGCTA	0.458000													7	10					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567191	101567191	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:101567191C>A	ENST00000370449.4	+	12	1694	c.1581C>A	c.(1579-1581)aaC>aaA	p.N527K		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	527	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGTACAAAACCTCCGGAAGA	0.428000													37	77					1.4065e-29	1.44663e-29	1	1	0
GJA8	2703	broad.mit.edu	37	1	147380783	147380783	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:147380783C>T	ENST00000240986.4	+	2	754	c.701C>T	c.(700-702)tCt>tTt	p.S234F	GJA8_ENST00000369235.1_Missense_Mutation_p.S234F	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	234					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGATCCGGTCTGCCTTGAAG	0.552000													19	30					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80636063	80636063	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:80636063G>A	ENST00000369816.4	-	2	436	c.136C>T	c.(136-138)Cct>Tct	p.P46S		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	46					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GTAGGCCAAGGAGACTGCATC	0.378000													12	27					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25074496	25074496	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr13:25074496G>A	ENST00000381989.3	-	4	464	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	120					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGCACTGTCCGGGCATAGACC	0.393000													22	31					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769059	148769059	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:148769059G>A	ENST00000316286.9	-	3	819	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	ZNF786_ENST00000491431.1_Missense_Mutation_p.R269W|ZNF786_ENST00000451334.3_Missense_Mutation_p.R232W			Q8N393	ZN786_HUMAN	zinc finger protein 786	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAGCGTTCCGGAAGGGGCCC	0.677000													23	38					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12226903	12226903	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:12226903G>A	ENST00000491614.1	-	3	511	c.116C>T	c.(115-117)cCt>cTt	p.P39L	NUDT5_ENST00000537776.1_Missense_Mutation_p.P39L|NUDT5_ENST00000378937.3_Missense_Mutation_p.P39L|NUDT5_ENST00000378940.3_Missense_Mutation_p.P39L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Missense_Mutation_p.P39L			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	39					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TTTACCAGTAGGATCCATGTA	0.313000													10	14					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2416644	2416644	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:2416644G>A	ENST00000360876.4	+	15	2144	c.2088G>A	c.(2086-2088)aaG>aaA	p.K696K	EIF3B_ENST00000397011.2_Silent_p.K696K	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	696					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGAACAACAAGGACCGCTTCT	0.647000													29	31					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436772	56436772	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:56436772G>A	ENST00000327381.5	+	3	2039	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	647						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GTTGGAGTACGAAACCACTTT	0.488000													14	23					0	0	1	0	0
CLDN20	49861	broad.mit.edu	37	6	155597159	155597159	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:155597159G>A	ENST00000367165.3	+	2	686	c.306G>A	c.(304-306)atG>atA	p.M102I	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	102					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		CAGTAGGAATGAAATGTACTC	0.522000													23	47					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838723	55838723	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:55838723G>A	ENST00000302000.6	-	3	852	c.758C>T	c.(757-759)tCc>tTc	p.S253F	PYGO1_ENST00000563719.1_Missense_Mutation_p.S253F	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	253	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATGAGCAGAGGAATTTTGATT	0.373000													29	63					0	0	1	0	0
FAM153B	202134	broad.mit.edu	37	5	175528067	175528067	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:175528067G>A	ENST00000253490.4	+	11	637	c.580G>A	c.(580-582)Gag>Aag	p.E194K	FAM153B_ENST00000515817.1_Missense_Mutation_p.E117K|FAM153B_ENST00000510151.1_Missense_Mutation_p.E117K|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	194										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GGAAGACCTGGAGGAGCATGG	0.517000													110	178					0	0	1	0	0
MPZL2	10205	broad.mit.edu	37	11	118133292	118133292	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:118133292C>T	ENST00000278937.2	-	3	425	c.297G>A	c.(295-297)ggG>ggA	p.G99G	MPZL2_ENST00000438295.2_Silent_p.G99G	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	99	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GCTCAGGATTCCCATCCCAAG	0.517000													9	19					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510910	26510910	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:26510910C>T	ENST00000531191.1	+	11	1252	c.245C>T	c.(244-246)cCt>cTt	p.P82L	CNKSR1_ENST00000361530.6_Missense_Mutation_p.P340L|CNKSR1_ENST00000374253.5_Missense_Mutation_p.P347L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	347	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTGGCCCTGAGCCCCTG	0.642000													6	13					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:57257937C>T	ENST00000343433.6	-	2	629	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000													33	58					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888865	219888865	+	Missense_Mutation	SNP	G	G	A	rs145857098	by1000genomes	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:219888865G>A	ENST00000341552.5	-	15	2550	c.2467C>T	c.(2467-2469)Cgg>Tgg	p.R823W	CCDC108_ENST00000441968.1_Missense_Mutation_p.R823W|CCDC108_ENST00000453220.1_Missense_Mutation_p.R823W	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	823						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGGGCCGAAGGATGACG	0.622000													22	45					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4826969	4826969	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:4826969C>T	ENST00000381750.4	+	3	543	c.320C>T	c.(319-321)cCa>cTa	p.P107L	RCL1_ENST00000381732.3_Missense_Mutation_p.P107L	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	107					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		TGCTTGGCTCCATTTATGAAG	0.458000													17	62					0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123699297	123699297	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:123699297G>A	ENST00000479867.1	-	2	280	c.32C>T	c.(31-33)cCg>cTg	p.P11L	ROPN1_ENST00000459660.1_Missense_Mutation_p.P11L|ROPN1_ENST00000484329.1_Missense_Mutation_p.P11L|ROPN1_ENST00000495093.1_Missense_Mutation_p.P11L|ROPN1_ENST00000184183.4_Missense_Mutation_p.P11L|ROPN1_ENST00000405845.3_Missense_Mutation_p.P11L			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	11					signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CAGCTCCGGCGGGATGCATGT	0.507000													19	44					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359884	40359884	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:40359884G>A	ENST00000338305.6	-	3	2710	c.2168C>T	c.(2167-2169)tCc>tTc	p.S723F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	723						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CATGTCGAAGGAGTGGCTGCG	0.701000													7	14					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53159945	53159945	+	Silent	SNP	G	G	A	rs148510042		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:53159945G>A	ENST00000296292.3	-	2	190	c.129C>T	c.(127-129)atC>atT	p.I43I	RFT1_ENST00000394738.3_Silent_p.I43I	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	43					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I43I(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTACGCCAACGATTTCCTTTG	0.408000													5	13					0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125583982	125583982	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:125583982G>A	ENST00000368388.2	+	5	576	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	TPD52L1_ENST00000532429.1_Silent_p.T134T|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.T150T|TPD52L1_ENST00000392482.2_Missense_Mutation_p.R101Q|TPD52L1_ENST00000534000.1_Silent_p.T163T|TPD52L1_ENST00000524679.1_Missense_Mutation_p.R101Q|TPD52L1_ENST00000534199.1_Missense_Mutation_p.R101Q|TPD52L1_ENST00000304877.13_Silent_p.T168T|TPD52L1_ENST00000368402.5_Missense_Mutation_p.R143Q|TPD52L1_ENST00000530868.1_3'UTR	NM_001003397.1	NP_001003397.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	0					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CATTTCAGACGAAAGTAGGCG	0.463000													28	36					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92185653	92185653	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:92185653G>A	ENST00000212355.4	-	9	1675	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	TGFBR3_ENST00000525962.1_Missense_Mutation_p.P404S|TGFBR3_ENST00000370399.2_Missense_Mutation_p.P403S	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	404					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P404S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCTGGGAAAGGAAACGGAAGG	0.587000													22	33					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688962	60688962	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:60688962G>A	ENST00000335712.6	-	4	1312	c.1085C>T	c.(1084-1086)cCt>cTt	p.P362L	BCL11A_ENST00000356842.4_Missense_Mutation_p.P362L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P328L|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.P328L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	362	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGATTGCAGAGGAGGGAGGGG	0.637000			T	IGH@	B-CLL								29	58					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71887258	71887258	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:71887258G>A	ENST00000373545.3	-	7	1122	c.684C>T	c.(682-684)atC>atT	p.I228I	PHKA1_ENST00000373539.3_Silent_p.I228I|PHKA1_ENST00000541944.1_Silent_p.I228I|PHKA1_ENST00000339490.3_Silent_p.I228I|PHKA1_ENST00000373542.4_Silent_p.I228I			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	228					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCAGGACATGGATAACTGATT	0.423000													11	28					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278496	50278496	+	Missense_Mutation	SNP	G	G	A	rs145690431		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:50278496G>A	ENST00000442544.2	+	2	780	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	55	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.G55E(3)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGCGGGGAGGAAATGTCCTC	0.507000													12	27					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41758751	41758751	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:41758751G>A	ENST00000301178.4	+	16	1995	c.1804_splice	c.e16-1	p.G602_splice	AXL_ENST00000359092.3_Splice_Site_p.G593_splice|AXL_ENST00000593513.1_Splice_Site_p.G334_splice	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	602	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGGGCTCAGGTGTCTGTTTC	0.572000													27	32					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246315	46246315	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:46246315C>G	ENST00000334344.6	+	15	4581	c.4409C>G	c.(4408-4410)tCa>tGa	p.S1470*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1080*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S78*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1321*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1470					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTAGTTGTCTCACCACATTCT	0.448000			"""N, S, F"""		hepatocellular carcinoma								13	122					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79590592	79590592	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:79590592G>A	ENST00000372391.2	-	10	1793	c.1788C>T	c.(1786-1788)ttC>ttT	p.F596F	DLG5_ENST00000372388.2_Silent_p.F596F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	596					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCAGCTGTCGGAACCGGGCCT	0.572000													8	26					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255207	70255207	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:70255207C>T	ENST00000342771.4	+	19	3326	c.3005C>T	c.(3004-3006)gCc>gTc	p.A1002V	AUTS2_ENST00000406775.2_Missense_Mutation_p.A978V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1002										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCACCGGGCCTCGGAGCCG	0.682000													12	27					0	0	1	0	0
C2orf53	339779	broad.mit.edu	37	2	27361080	27361080	+	Missense_Mutation	SNP	G	G	A	rs149656537	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:27361080G>A	ENST00000335524.3	-	3	643	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	40	Pro-rich.							p.P40S(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTGATGGGGAGAGAGAGGC	0.622000													10	23					0	0	1	0	0
DEFB127	140850	broad.mit.edu	37	20	139539	139539	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:139539G>A	ENST00000382388.3	+	2	249	c.174G>A	c.(172-174)aaG>aaA	p.K58K		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	58					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCAATATCAAGGAACTGGAAG	0.393000													16	40					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162862316	162862316	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:162862316G>A	ENST00000360534.3	-	23	2551	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	664					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TGTGTACACTGAGTCTGTGAA	0.338000													14	12					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283364	77283364	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:77283364G>A	ENST00000388914.3	-	12	2087	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	645										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCACTGCACGGAGCCGCTCAG	0.433000													28	55					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26825135	26825135	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:26825135G>A	ENST00000376236.4	+	10	1488	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGTACCCAAAGGAAAGACTAA	0.328000													48	93					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154585853	154585853	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:154585853C>T	ENST00000404039.1	+	11	1596	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	DPP6_ENST00000427557.1_Missense_Mutation_p.R294W|DPP6_ENST00000377770.3_Missense_Mutation_p.R401W|DPP6_ENST00000332007.3_Missense_Mutation_p.R339W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	401					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGGCTGAACCGGGCGCAGAA	0.632000													21	18					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280433	238280433	+	Silent	SNP	C	C	T	rs142938239		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:238280433C>T	ENST00000295550.4	-	9	4679	c.4227G>A	c.(4225-4227)acG>acA	p.T1409T	COL6A3_ENST00000409809.1_Silent_p.T1203T|COL6A3_ENST00000472056.1_Silent_p.T802T|COL6A3_ENST00000353578.4_Silent_p.T1203T|COL6A3_ENST00000392004.3_Silent_p.T1203T|COL6A3_ENST00000392003.2_Silent_p.T1002T|COL6A3_ENST00000347401.3_Silent_p.T1208T|COL6A3_ENST00000346358.4_Silent_p.T1209T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1409	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTCAGGGTCGTGATGGGCG	0.587000													23	63					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797778	125797778	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:125797778C>T	ENST00000373642.1	+	1	973	c.933C>T	c.(931-933)ttC>ttT	p.F311F	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	311						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACAGTGTATTCCAAAGAGGAC	0.473000													28	49					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112758834	112758834	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:112758834C>T	ENST00000295408.4	+	11	1918	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	MERTK_ENST00000421804.2_Missense_Mutation_p.S554F|MERTK_ENST00000409780.1_Missense_Mutation_p.S378F			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	554					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCAAAGAAATCCTTCTGTCGG	0.368000													19	27					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38528956	38528956	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:38528956G>A	ENST00000332509.3	-	7	1142	c.959C>T	c.(958-960)gCc>gTc	p.A320V	PLA2G6_ENST00000335539.3_Missense_Mutation_p.A320V|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A320V	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	320					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CACGTGCAGGGCCGTGTTCCC	0.672000													3	3					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80770955	80770955	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:80770955G>A	ENST00000458043.2	+	57	6813	c.6807G>A	c.(6805-6807)agG>agA	p.R2269R	OTOGL_ENST00000547103.1_Silent_p.R2257R|OTOGL_ENST00000546620.1_Silent_p.R288R	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGGTCATAAGGAAACAGGACT	0.333000													12	37					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	602526	602526	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:602526C>T	ENST00000219611.2	+	11	3096	c.2733C>T	c.(2731-2733)ccC>ccT	p.P911P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CCCCTGCCCCCCAGGGTACGT	0.711000													9	19					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353859	57353859	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:57353859T>C	ENST00000314922.3	-	2	852	c.776A>G	c.(775-777)aAa>aGa	p.K259R	PENK_ENST00000451791.2_Missense_Mutation_p.K259R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	259					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TCCGTATCTTTTTTCCATTTC	0.493000													28	59					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382388	48382388	+	Splice_Site	SNP	C	C	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:48382388C>G	ENST00000222002.3	-	4	612		c.e4-1			NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CCATATAGCACTGCATGGGGT	0.443000													28	54					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43222965	43222965	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:43222965C>A	ENST00000422911.1	-	24	3122	c.3021G>T	c.(3019-3021)gaG>gaT	p.E1007D	PRDM15_ENST00000398548.1_Missense_Mutation_p.E987D|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_Missense_Mutation_p.E1316D|PRDM15_ENST00000447207.2_Missense_Mutation_p.E950D|PRDM15_ENST00000538201.1_Missense_Mutation_p.E970D			P57071	PRD15_HUMAN	PR domain containing 15	1316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGGTGGCGTCCTCGGGCACCG	0.567000													69	174					2.05175e-36	2.11317e-36	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47583574	47583574	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:47583574G>A	ENST00000334194.3	+	12	1489	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	496						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GTCCAAGAATGGAATCCATGT	0.413000													8	28					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744536	236744536	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:236744536G>A	ENST00000366582.3	-	20	2855	c.2741C>T	c.(2740-2742)tCc>tTc	p.S914F	HEATR1_ENST00000366581.2_Missense_Mutation_p.S914F	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	914					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGAAGATATGGATGCCAGTTG	0.383000													23	49					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120352096	120352096	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:120352096C>T	ENST00000283871.5	-	13	1545	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	362					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGTGTAGACTCCCTCCCCCTG	0.557000													24	48					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92624066	92624066	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:92624066T>G	ENST00000298875.4	+	13	1944	c.1659T>G	c.(1657-1659)atT>atG	p.I553M		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	553					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAAAAATCATTAATCAGATGA	0.433000													16	36					0	0	1	0	0
C10orf128	170371	broad.mit.edu	37	10	50369650	50369650	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:50369650G>A	ENST00000474718.1	-	5	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	C10orf128_ENST00000374148.1_Silent_p.L148L|C10orf128_ENST00000374151.3_Silent_p.L148L|C10orf128_ENST00000374153.2_Silent_p.L122L	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	96						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						TCACCTTTTGGAGAAATTGTG	0.483000											OREG0020181	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	36					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216249	20216249	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:20216249C>T	ENST00000331723.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATGCTATCATCCTGATCA	0.507000													18	72					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609974	95609974	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:95609974G>A	ENST00000395505.2	-	3	1079	c.987C>T	c.(985-987)ctC>ctT	p.L329L	ZNF484_ENST00000375495.3_Silent_p.L365L|ZNF484_ENST00000332591.6_Silent_p.L329L|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.L367L	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATTCTGAGGGAGGTTTTTCT	0.363000													10	33					0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612319	47612319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:47612319C>T	ENST00000302514.3	-	2	560	c.44G>A	c.(43-45)tGg>tAg	p.W15*		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	15						extracellular region				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GCCCAGGGCCCAGCAGGCCGC	0.746000													4	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419801	179419801	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179419801G>A	ENST00000589042.1	-	331	88609	c.88385C>T	c.(88384-88386)gCt>gTt	p.A29462V	TTN_ENST00000591111.1_Missense_Mutation_p.A27821V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A20522V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A26894V|TTN_ENST00000460472.2_Missense_Mutation_p.A20397V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A20589V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27821	Fibronectin type-III 114.						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)			AGAAATGCCAGCTCTGAGCTT	0.413000													13	29					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100551599	100551599	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:100551599G>A	ENST00000319509.7	+	1	350	c.350G>A	c.(349-351)aGt>aAt	p.S117N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCCCAATCAGTTCCTTTAGC	0.498000													184	301					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869640	201869640	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:201869640C>T	ENST00000367288.4	-	2	747	c.501G>A	c.(499-501)gtG>gtA	p.V167V		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	167	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ccttctTATCCACTGCAGCCC	0.567000													12	24					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651196	90651196	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:90651196C>T	ENST00000282146.4	+	2	1517	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	359						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				AACAAGGCCTCGTTGGCCATC	0.617000													25	48					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7370093	7370093	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7370093G>A	ENST00000311403.4	-	3	367	c.28C>T	c.(28-30)Ccg>Tcg	p.P10S	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P10S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCATGGGACGGGTCCGTCACC	0.652000													4	5					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966930	87966930	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:87966930C>T	ENST00000369577.3	+	8	3626	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.H1190Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTTCCAGCTCATTTAGCAAG	0.413000													12	21					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711275	134711275	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:134711275T>G	ENST00000370752.4	+	14	2265	c.1931T>G	c.(1930-1932)gTg>gGg	p.V644G	DDX26B_ENST00000493637.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	644										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAACCATGTGGGCGGAAAG	0.493000													67	96					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101550947	101550947	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:101550947C>T	ENST00000284395.5	+	10	1577	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S	LRRK1_ENST00000388948.3_Missense_Mutation_p.P396S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	396					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACAGAACTCCCTGCCCTGTT	0.423000													10	37					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906899	103906899	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:103906899C>T	ENST00000278070.2	+	9	4189	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R351W|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1384	Necessary for interaction with CREB1 and NRF1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACCCTGCCGGAATGACAT	0.617000													11	49					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72152083	72152083	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:72152083G>A	ENST00000356056.5	-	34	6618	c.6146C>T	c.(6145-6147)tCt>tTt	p.S2049F	MYO9A_ENST00000564571.1_Missense_Mutation_p.S2049F|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2120F|MYO9A_ENST00000444904.1_Missense_Mutation_p.S2030F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2049	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACCTTTTTAGAGCACTTGGC	0.353000													10	22					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141643727	141643727	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:141643727C>A	ENST00000389484.3	-	24	4915	c.3944G>T	c.(3943-3945)gGa>gTa	p.G1315V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1315					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G1315E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAAGCTTTCCCCGGTATAT	0.303000										TSP Lung(27;0.18)			15	43					6.31663e-08	6.40119e-08	1	1	0
ITGAV	3685	broad.mit.edu	37	2	187531505	187531505	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:187531505C>T	ENST00000261023.3	+	22	2515	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.I711I|ITGAV_ENST00000433736.2_Silent_p.I701I	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	747					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTTACAAATCCAAAGGTATG	0.299000													12	14					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288947	125288947	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:125288947A>C	ENST00000304880.2	-	1	625	c.626T>G	c.(625-627)tTt>tGt	p.F209C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AATGCATAAAAAGGGGACGAT	0.527000													12	28					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167673907	167673907	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:167673907A>G	ENST00000519204.1	+	26	5718	c.5600A>G	c.(5599-5601)aAc>aGc	p.N1867S	TENM2_ENST00000545108.1_Missense_Mutation_p.N1987S|TENM2_ENST00000520394.1_Missense_Mutation_p.N1749S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1812S|TENM2_ENST00000518659.1_Missense_Mutation_p.N1988S					teneurin transmembrane protein 2																		AATATTTACAACCCGCCTGAA	0.557000													121	75					0	0	1	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32525695	32525695	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:32525695C>T	ENST00000411500.1	-	0	455					NR_001298.1																						GCGCTCACCTCGCGGCTGCAC	0.572000													2	1					0	0	1	0	0
TOR2A	27433	broad.mit.edu	37	9	130494414	130494414	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:130494414G>A	ENST00000373284.5	-	5	911	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	TOR2A_ENST00000336067.6_3'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	289					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						AGCACAGCCTGGACAACCTCA	0.647000													37	61					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134812	128134812	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:128134812C>T	ENST00000368250.1	-	5	1235	c.737G>A	c.(736-738)aGc>aAc	p.S246N	THEMIS_ENST00000543064.1_Missense_Mutation_p.S325N|THEMIS_ENST00000537166.1_Missense_Mutation_p.S290N|THEMIS_ENST00000368248.2_Missense_Mutation_p.S325N			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	325	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGAAAATTGCTTCTAATTTC	0.458000													14	39					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61939968	61939968	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:61939968G>A	ENST00000422202.1	+	7	939	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	COL20A1_ENST00000358894.6_Missense_Mutation_p.V284M|COL20A1_ENST00000326996.6_Missense_Mutation_p.V284M|COL20A1_ENST00000435874.1_Missense_Mutation_p.V291M			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	284	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGCCAAGGTGGTGATTCTGGT	0.637000													7	6					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732318	2732318	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:2732318A>G	ENST00000320876.6	+	25	3442	c.3104A>G	c.(3103-3105)cAt>cGt	p.H1035R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.H1035R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1035					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCCAGTAGCCATGTTGCAAGA	0.383000													25	59					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130413270	130413270	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:130413270G>A	ENST00000370904.1	-	16	2575	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	IGSF1_ENST00000370910.1_Silent_p.F555F|IGSF1_ENST00000361420.3_Silent_p.F564F|IGSF1_ENST00000370903.3_Silent_p.F564F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	564					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCGTGACTATGAAGAGCATGG	0.617000													25	54					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8248987	8248987	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:8248987G>A	ENST00000328248.2	+	3	779	c.589_splice	c.e3-1	p.A197_splice	ODF4_ENST00000584943.1_Splice_Site_p.A82_splice	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	197					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTTCCCAGCGATCCTTTGCT	0.493000													24	39					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17745640	17745640	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:17745640G>A	ENST00000380060.3	+	6	3689	c.3351G>A	c.(3349-3351)ctG>ctA	p.L1117L	NHS_ENST00000398097.3_Silent_p.L961L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1117						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAACGATCCTGAAATCTGTTA	0.403000													46	85					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167625861	167625861	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:167625861C>T	ENST00000519204.1	+	15	2659	c.2541C>T	c.(2539-2541)ttC>ttT	p.F847F	TENM2_ENST00000545108.1_Silent_p.F968F|TENM2_ENST00000520394.1_Silent_p.F736F|TENM2_ENST00000403607.2_Silent_p.F792F|TENM2_ENST00000518659.1_Silent_p.F968F					teneurin transmembrane protein 2																		TCTCCAGGTTCGACCTGATCG	0.557000													100	56					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166676	19166676	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:19166676G>A	ENST00000375371.3	-	6	1958	c.1937C>T	c.(1936-1938)tCc>tTc	p.S646F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	646					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCGATACAGGAGATGCAGAT	0.632000													53	83					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284011	43284011	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:43284011G>A	ENST00000511537.1	-	0	924					NR_033868.1																						AGTTTCATCAGCACTGAAGCC	0.468000													6	16					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488264	44488264	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:44488264C>A	ENST00000425708.2	-	7	3240	c.2899G>T	c.(2899-2901)Gga>Tga	p.G967*	ZNF445_ENST00000396077.2_Nonsense_Mutation_p.G967*			P59923	ZN445_HUMAN	zinc finger protein 445	967					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCTGGAGTCCAGTGAGCCTG	0.448000													41	48					1.93745e-38	1.99816e-38	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178421693	178421693	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:178421693C>T	ENST00000448150.3	+	11	2679	c.1861C>T	c.(1861-1863)Ctt>Ttt	p.L621F	RASAL2_ENST00000462775.1_Missense_Mutation_p.L491F|RASAL2_ENST00000367649.3_Missense_Mutation_p.L639F	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	491					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTCTCCCAGTCTTTTCAACCT	0.493000													36	85					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11061960	11061960	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:11061960G>A	ENST00000287766.4	+	6	954	c.533G>A	c.(532-534)aGc>aAc	p.S178N	SLC6A1_ENST00000536032.1_5'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	178					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCCAACTACAGCATGGTCAAC	0.587000													5	9					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475830	7475830	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:7475830G>A	ENST00000399422.4	+	8	1174	c.1125_splice	c.e8-1	p.G376_splice		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	376					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.G376R(2)		endometrium(6)|kidney(1)|lung(14)	21						CTCTCAATAGGGAATGATTTG	0.353000													3	6					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711728	151711728	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:151711728G>A	ENST00000392800.2	+	8	1280		c.e8-1		GALNTL5_ENST00000431418.2_Splice_Site	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTATGCCTAGATCTGGATGT	0.418000													17	67					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161113	43161113	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr21:43161113T>G	ENST00000352483.2	-	9	2448	c.2384A>C	c.(2383-2385)cAc>cCc	p.H795P	RIPK4_ENST00000542057.1_Missense_Mutation_p.H684P|RIPK4_ENST00000332512.3_Missense_Mutation_p.H747P|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.H684P			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	747						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTCTGTGCGTGCCGGCCCTG	0.692000													42	85					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150977	51150977	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:51150977C>T	ENST00000342995.2	+	1	1211	c.1109C>T	c.(1108-1110)cCt>cTt	p.P370L						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GATGAGAATCCTTCCTGTGGG	0.607000													27	38					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86123562	86123562	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:86123562C>T	ENST00000431532.2	-	10	1371	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.G447E	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	447					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATTATTGGATCCTTTCAATAC	0.318000													15	46					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906170	85906170	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:85906170G>A	ENST00000373131.1	+	3	896	c.733_splice	c.e3+1	p.G245_splice	DACH2_ENST00000373125.4_Splice_Site_p.G258_splice|DACH2_ENST00000508860.1_Splice_Site_p.G91_splice|DACH2_ENST00000510272.1_Splice_Site_p.G39_splice	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTCTAACACAGGTGAGTGTCT	0.443000													7	20					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301686	301686	+	Silent	SNP	G	G	A	rs138858909		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:301686G>A	ENST00000428720.1	-	15	2402	c.1659C>T	c.(1657-1659)ttC>ttT	p.F553F	SLC6A12_ENST00000424061.2_Silent_p.F553F|SLC6A12_ENST00000397296.2_Silent_p.F553F|SLC6A12_ENST00000359674.4_Silent_p.F553F|SLC6A12_ENST00000536824.1_Silent_p.F553F	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	553					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGATGACGACGAAGAGTGGGA	0.562000													37	60					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918037	57918037	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:57918037G>A	ENST00000574161.1	+	5	591	c.472G>A	c.(472-474)Gat>Aat	p.D158N	GCOM1_ENST00000380561.2_Missense_Mutation_p.D127N|GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.D158N|GCOM1_ENST00000396180.1_Missense_Mutation_p.D127N|MYZAP_ENST00000380565.4_Missense_Mutation_p.D158N|GCOM1_ENST00000572390.1_Missense_Mutation_p.D158N|MYZAP_ENST00000267853.5_Missense_Mutation_p.D158N|GCOM1_ENST00000587652.1_Missense_Mutation_p.D158N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.D158N	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		158					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTCTGCCCTGGATCGTTTTAA	0.488000													17	38					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127662	117127662	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:117127662G>A	ENST00000310357.3	-	3	1227	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.F402F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	402					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGTCCCAGAGGAAGTCATTTC	0.443000													11	28					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643813	121643813	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:121643813C>T	ENST00000489711.1	+	13	1445	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	SLC15A2_ENST00000295605.2_Missense_Mutation_p.L322F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	353					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCTGGTTCTTATCTTCAT	0.383000													32	62					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57489912	57489912	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:57489912C>T	ENST00000351747.2	-	9	1097	c.917G>A	c.(916-918)aGa>aAa	p.R306K	DNAH12_ENST00000389536.4_Missense_Mutation_p.R306K|DNAH12_ENST00000311202.6_Missense_Mutation_p.R306K	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	306	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						TTCTACAGTTCTCCTTAATAG	0.308000													7	14					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21716178	21716178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:21716178G>A	ENST00000261195.2	-	6	1179	c.925C>T	c.(925-927)Cga>Tga	p.R309*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	309					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAATGACCTCGAACAAAATCT	0.323000													22	30					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139108496	139108496	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:139108496C>T	ENST00000358701.5	-	9	1196	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	387					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGATCCTGTCCAGGGGAAGG	0.632000													23	44					0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14678872	14678872	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:14678872G>A	ENST00000284274.4	+	3	390	c.312G>A	c.(310-312)acG>acA	p.T104T		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	104								p.T104T(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AGAAAGCAACGTGTATGAAAA	0.328000													14	26					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792973	65792973	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:65792973G>A	ENST00000312106.5	-	1	1015	c.878C>T	c.(877-879)aCc>aTc	p.T293I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	293	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtgccggtgggtctggtggta	0.567000													8	11					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147819	5147819	+	Missense_Mutation	SNP	G	G	A	rs1804059		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:5147819G>A	ENST00000380554.3	+	8	1531	c.879G>A	c.(877-879)atG>atA	p.M293I	AKR1C3_ENST00000439082.2_Missense_Mutation_p.M174I|AKR1C3_ENST00000605149.1_Missense_Mutation_p.M270I	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	293					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CAGAGGACATGAAAGCCATAG	0.343000													7	12					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72501100	72501100	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:72501100A>G	ENST00000319622.6	-	6	1154	c.698T>C	c.(697-699)gTc>gCc	p.V233A	PKM_ENST00000568883.1_Missense_Mutation_p.V68A|PKM_ENST00000568459.1_Missense_Mutation_p.V233A|PKM_ENST00000335181.5_Missense_Mutation_p.V233A|PKM_ENST00000565154.1_Missense_Mutation_p.V233A|PKM_ENST00000565184.1_Missense_Mutation_p.V233A|PKM_ENST00000389093.3_Missense_Mutation_p.V233A|PKM_ENST00000449901.2_Missense_Mutation_p.V218A	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						ATCCTGCTCGACCCCAAACTT	0.532000													29	75					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17602916	17602916	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:17602916A>T	ENST00000259963.3	+	2	863	c.808A>T	c.(808-810)Agc>Tgc	p.S270C		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	270	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CATTGTCTTAAGCATTATGCA	0.353000													29	40					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021599	132021599	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:132021599C>T	ENST00000356920.5	+	15	2665	c.2571C>T	c.(2569-2571)gaC>gaT	p.D857D	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	857	Actin-like.						ATP binding										ACTCTGGTGACGGGGTCACCC	0.617000													55	117					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022573	18022573	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:18022573G>A	ENST00000205890.5	+	2	797	c.459G>A	c.(457-459)caG>caA	p.Q153Q		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	153	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCAGCGAACAGGCCACAGTGG	0.682000													16	40					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619845	28619845	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:28619845G>A	ENST00000395609.1	-	5	986	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SULT1A1_ENST00000395607.1_Silent_p.F76F|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.F76F|SULT1A1_ENST00000569554.1_Silent_p.F76F			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	76					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCACCCGCATGAAGATGGGAG	0.592000													20	38					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051726	75051726	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:75051726C>T	ENST00000310715.3	-	18	2147	c.2027G>A	c.(2026-2028)gGt>gAt	p.G676D	TTC18_ENST00000394865.1_Missense_Mutation_p.G676D|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.G145D|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.G676D	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	676							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GCAGAAGGCACCATAGTCCAA	0.453000													27	46					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65829443	65829443	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:65829443C>T	ENST00000528302.1	+	15	1954	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S	SF3B2_ENST00000322535.6_Missense_Mutation_p.P651S			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	651					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGAAAATCCCTGGGCTGAA	0.498000													4	19					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100170107	100170107	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:100170107G>A	ENST00000524871.1	+	20	2889	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I	CNTN5_ENST00000527185.1_Missense_Mutation_p.V867I|CNTN5_ENST00000418526.2_Missense_Mutation_p.V793I|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.V867I|CNTN5_ENST00000528682.1_Missense_Mutation_p.V867I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	867	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAAATTGTGGTCATCTGTTC	0.328000													21	26					0	0	1	0	0
IER3	8870	broad.mit.edu	37	6	30711784	30711784	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:30711784G>A	ENST00000259874.5	-	2	435	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	IER3_ENST00000376377.2_3'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	134					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TCCGAAGTCAGATTAAAGGGC	0.647000													13	35					0	0	1	0	0
EIF2B3	8891	broad.mit.edu	37	1	45323394	45323394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:45323394G>A	ENST00000360403.2	-	11	1414	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	430					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCAATCCTCTGGCCACTTCCA	0.458000													17	30					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50912422	50912422	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:50912422C>A	ENST00000442544.2	+	16	2985	c.2369C>A	c.(2368-2370)tCc>tAc	p.S790Y	DCC_ENST00000581580.1_Missense_Mutation_p.S445Y|DCC_ENST00000412726.1_Missense_Mutation_p.S638Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	790	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAGTCAAGTTCCCATTATGTA	0.348000													6	21					0.0215528	0.0215528	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235883	3235883	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:3235883C>T	ENST00000217939.6	-	6	5993	c.5839G>A	c.(5839-5841)Gtg>Atg	p.V1947M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1947						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTGCTGCACGGTGACCGAA	0.567000													38	44					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717045	13717045	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:13717045A>T	ENST00000279593.3	-	13	3336	c.3127T>A	c.(3127-3129)Tcc>Acc	p.S1043T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1043					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTTGAAGGAGAATTTGCCG	0.582000													13	28					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835911	12835911	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:12835911G>A	ENST00000357726.4	+	2	540	c.513G>A	c.(511-513)caG>caA	p.Q171Q		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	171										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCAAGCAGAGAAAAGGCT	0.522000													32	91					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99340798	99340798	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr13:99340798G>A	ENST00000376503.5	-	19	1555	c.1500C>T	c.(1498-1500)atC>atT	p.I500I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	500					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CACTCATTGTGATGGTGATGA	0.383000													7	18					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153959	37153959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:37153959G>A	ENST00000331299.5	-	8	1290	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.Q259*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	259					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCTTCTTCCTGATAGACTGTT	0.383000													17	45					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114824179	114824179	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:114824179C>T	ENST00000315366.7	-	2	1917	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	ARSJ_ENST00000541197.1_Missense_Mutation_p.G351R	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	351						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGATCCCTCCTTCCCAATAT	0.488000													15	48					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936389	4936389	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:4936389C>T	ENST00000424747.1	-	5	1922	c.1210G>A	c.(1210-1212)Ggt>Agt	p.G404S	SLC52A1_ENST00000254853.5_Missense_Mutation_p.G404S|SLC52A1_ENST00000512825.2_3'UTR	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	404						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCCGGCCGACCCCCACCATGC	0.612000													23	45					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936889	152936889	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:152936889C>T	ENST00000393831.2	-	7	969		c.e7-1		PNCK_ENST00000340888.3_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000370145.4_Intron	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCTCGGCCTACTCAAGCC	0.647000													32	63					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183536425	183536425	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:183536425C>T	ENST00000413720.1	-	7	908	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	NCF2_ENST00000367535.3_Missense_Mutation_p.E257K|NCF2_ENST00000367536.1_Missense_Mutation_p.E257K|NCF2_ENST00000418089.1_Missense_Mutation_p.E176K	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	257					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TGGAGCTCTTCTTTTGTCTCA	0.532000													109	201					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205986601	205986601	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:205986601C>T	ENST00000406610.2	+	8	1300	c.1093C>T	c.(1093-1095)Ccc>Tcc	p.P365S	PARD3B_ENST00000462231.1_Missense_Mutation_p.P365S|PARD3B_ENST00000358768.2_Missense_Mutation_p.P365S|PARD3B_ENST00000351153.1_Missense_Mutation_p.P365S|PARD3B_ENST00000349953.3_Missense_Mutation_p.P365S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	365					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACCATCCTCTCCCTCACTCTC	0.418000													16	26					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510567	49510567	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:49510567G>A	ENST00000396029.3	-	5	1251	c.684C>T	c.(682-684)ttC>ttT	p.F228F	ADNP_ENST00000371602.4_Silent_p.F228F|ADNP_ENST00000396032.3_Silent_p.F228F|ADNP_ENST00000349014.3_Silent_p.F228F	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ACTTTGGCATGAAAAGGCATC	0.473000													19	24					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323276	31323276	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:31323276C>T	ENST00000269197.5	+	12	3464	c.3464C>T	c.(3463-3465)tCg>tTg	p.S1155L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATGGAAGGTTCGACTGGTGTC	0.498000													11	20					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2823297	2823297	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:2823297C>T	ENST00000520002.1	-	60	9838	c.9283_splice	c.e60+1	p.A3095_splice	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Splice_Site_p.A3094_splice|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Splice_Site_p.A3095_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3095	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCAAACAAACCTTTGCAGACA	0.423000													3	5					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407160	75407160	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:75407160G>A	ENST00000297784.5	+	17	1998	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.M486I|TMC1_ENST00000396237.3_Missense_Mutation_p.M486I	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	486			M -> T (in dbSNP:rs17058153).		sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGCCAATATGATCAAGGCCT	0.418000													48	110					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716320	196716320	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:196716320G>A	ENST00000367429.4	+	22	3813	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1191	Sushi 20.		S -> L (in AHUS1; dbSNP:rs460897).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGCTTTATTCGAGAACAGGTG	0.378000													32	57					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73056476	73056476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:73056476C>T	ENST00000335350.6	+	15	2883	c.2467C>T	c.(2467-2469)Cag>Tag	p.Q823*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.Q812*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	823					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAGATATTCCAGCTGCATAC	0.602000													20	37					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123285934	123285934	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:123285934G>A	ENST00000253079.6	+	9	1585	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E	CCDC62_ENST00000537566.1_Missense_Mutation_p.G175E|CCDC62_ENST00000392441.4_Missense_Mutation_p.G414E|CCDC62_ENST00000392440.2_Missense_Mutation_p.G175E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	414						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGGTCTCTGGGAGGAAAAACC	0.418000													15	27					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107258904	107258904	+	Missense_Mutation	SNP	C	C	T	rs146893215	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:107258904C>T	ENST00000379119.2	+	8	915	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	BCAP29_ENST00000005259.4_3'UTR|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Missense_Mutation_p.R301W|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000465919.1_3'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	221					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						GCACTATGACCGGTTCGTAAT	0.299000													12	29					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397834	111397834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:111397834G>A	ENST00000265162.5	+	1	606	c.264G>A	c.(262-264)tgG>tgA	p.W88*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	88					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCGGACAGTGGAAAAACTTTC	0.617000													28	47					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7252509	7252509	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:7252509C>A	ENST00000266542.4	-	4	696	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	C1RL_ENST00000545280.1_Missense_Mutation_p.A86S|C1RL_ENST00000544702.1_Missense_Mutation_p.A202S	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	202					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTGCCGCGGCCTGATAATAG	0.622000													13	22					1.36491e-13	1.39627e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113301675	113301675	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:113301675C>T	ENST00000297405.5	-	57	9311	c.9067G>A	c.(9067-9069)Gga>Aga	p.G3023R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2953R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2854R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2983R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3023	Sushi 21.					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						GAACGCTTTCCTGTGCAGGAA	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	44					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607169	84607169	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:84607169C>T	ENST00000344803.2	+	4	1831	c.1784C>T	c.(1783-1785)cCt>cTt	p.P595L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTACCTAGTCCTCTATTCCTG	0.517000													30	45					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048753	107048753	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:107048753G>A	ENST00000390627.2	-	0	487																											AATTGTCTCTGGAGATGGTGA	0.542000													57	201					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768219	121768219	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:121768219C>T	ENST00000282561.3	+	2	383	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTCTCATGTGCGCTTCTGGGT	0.468000													25	31					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304126	115304126	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:115304126C>T	ENST00000371906.4	+	3	783	c.593C>T	c.(592-594)gCt>gTt	p.A198V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	198					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TGCATTATGGCTTTCCCACCT	0.393000													40	67					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550922	80550922	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:80550922G>A	ENST00000424301.2	+	6	796	c.558G>A	c.(556-558)agG>agA	p.R186R	CKMT2_ENST00000254035.4_Silent_p.R186R|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.R186R|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	186	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CCGAGCGAAGGGAGGTAGAGA	0.662000													30	56					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111851068	111851068	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:111851068G>A	ENST00000389811.4	+	19	1861	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ACOXL_ENST00000439055.1_Intron			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	546					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTGCAGGAGAGATGCTGAAAC	0.398000													9	31					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14030693	14030693	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:14030693C>T	ENST00000318003.7	+	12	1526	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	CC2D1A_ENST00000589606.1_Silent_p.L429L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	429					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGTGGGTGTCCTGGAGACTGC	0.627000													17	34					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26703117	26703117	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:26703117G>A	ENST00000272371.2	-	16	1992	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	OTOF_ENST00000403946.3_Silent_p.I622I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	622					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCCGGTCGATCATTGAGG	0.572000													23	43					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159846375	159846375	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:159846375C>T	ENST00000426543.2	-	10	1523	c.1068G>A	c.(1066-1068)cgG>cgA	p.R356R	CCDC19_ENST00000368099.4_Silent_p.R441R|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	441						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			CATCCCGGTCCCGTTGCACCT	0.532000													6	27					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388804	48388804	+	Missense_Mutation	SNP	C	C	T	rs150902800		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:48388804C>T	ENST00000224600.4	-	1	2187	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	692	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGACACCTCCTGGAGGTCT	0.662000													18	43					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883575	74883575	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:74883575A>G	ENST00000346246.5	+	6	1196	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	322	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ATTGATGGCAACCGCAGGGAG	0.607000													53	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179610805	179610805	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179610805C>T	ENST00000360870.5	-	46	16544	c.16322G>A	c.(16321-16323)cGa>cAa	p.R5441Q	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8948	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5441Q(1)		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)			ACAGACATTTCGAATTTTAAG	0.408000													32	82					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456007	5456007	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:5456007G>A	ENST00000222033.4	+	1	582	c.505G>A	c.(505-507)Gac>Aac	p.D169N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	169	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CTGCACCTTCGACCTCAAGGT	0.667000													27	54					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14863328	14863328	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:14863328G>A	ENST00000315576.3	-	15	2052	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	EMR2_ENST00000601345.1_Missense_Mutation_p.P523L|EMR2_ENST00000596991.2_Missense_Mutation_p.P523L|EMR2_ENST00000392964.3_Silent_p.S198S|EMR2_ENST00000595839.1_Missense_Mutation_p.P392L|EMR2_ENST00000392967.2_Missense_Mutation_p.P523L|EMR2_ENST00000353876.1_Missense_Mutation_p.P441L|EMR2_ENST00000594294.1_Missense_Mutation_p.P485L|EMR2_ENST00000594076.1_Missense_Mutation_p.P441L|EMR2_ENST00000392965.3_Missense_Mutation_p.P476L|EMR2_ENST00000346057.1_Missense_Mutation_p.P485L|EMR2_ENST00000353005.1_Missense_Mutation_p.P392L	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	534					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGTCAGCACGGGATCCTCCTC	0.527000													10	20					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492180	20492180	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:20492180G>A	ENST00000573854.1	+	12	1560	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	ACSM2A_ENST00000417235.2_Silent_p.L403L|ACSM2A_ENST00000396104.2_Silent_p.L482L|ACSM2A_ENST00000219054.6_Silent_p.L482L|ACSM2A_ENST00000575690.1_Silent_p.L482L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.L254L	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	482					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGAATGCACTGATGGAGCACC	0.567000													19	55					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67052618	67052618	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:67052618C>T	ENST00000308595.5	+	20	2154	c.1864C>T	c.(1864-1866)Ctc>Ttc	p.L622F	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	622	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GTGCCTGCTCCTCAAGATCCG	0.647000													87	165					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38407159	38407159	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:38407159C>T	ENST00000207870.3	+	6	529	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	XYLB_ENST00000542835.1_Missense_Mutation_p.R10C	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	147					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGCCCAGTGCCGCCAGCTGGA	0.652000													14	34					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54784349	54784349	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:54784349T>C	ENST00000218436.6	-	8	2187	c.2158A>G	c.(2158-2160)Act>Gct	p.T720A		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	720					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTCCTGAGAGTTGGCTGGGCC	0.512000													46	72					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41386947	41386947	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:41386947G>A	ENST00000551295.2	+	17	2106	c.1989G>A	c.(1987-1989)atG>atA	p.M663I	CNTN1_ENST00000348761.2_Missense_Mutation_p.M652I|CNTN1_ENST00000347616.1_Missense_Mutation_p.M663I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	663	Fibronectin type-III 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGGAAATATGGAGGCAGCAA	0.373000													23	42					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40841643	40841643	+	Silent	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:40841643C>A	ENST00000254691.5	+	1	358	c.159C>A	c.(157-159)ctC>ctA	p.L53L	CARD6_ENST00000381677.3_Silent_p.L53L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	53	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTACAGATCTCCTGAAGAAAA	0.403000													16	44					2.5808e-16	2.64366e-16	1	1	0
LALBA	3906	broad.mit.edu	37	12	48962955	48962955	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:48962955C>T	ENST00000549817.1	-	2	247	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	LALBA_ENST00000301046.2_Missense_Mutation_p.E68K			P00709	LALBA_HUMAN	lactalbumin, alpha-	68					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						AGTCCATATTCCGTGCTTTCA	0.453000													25	52					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:4525690G>A	ENST00000381848.3	-	6	755	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	225						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652000													18	40					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172635061	172635061	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:172635061C>T	ENST00000367721.2	+	4	935	c.751C>T	c.(751-753)Ctt>Ttt	p.L251F	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	251					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						AGTGTTCAATCTTACCAGTGC	0.478000													19	46					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717043	13717043	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:13717043G>A	ENST00000279593.3	-	13	3338	c.3129C>T	c.(3127-3129)tcC>tcT	p.S1043S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1043					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCTTGAAGGAGAATTTGC	0.582000													12	29					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901489	52901489	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:52901489G>A	ENST00000261844.7	-	6	1774	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	FAM214A_ENST00000546305.2_Missense_Mutation_p.S548F	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	541																	GTGAGAAATGGAAACTGAGGA	0.318000													22	32					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765088	61765088	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:61765088C>T	ENST00000423902.2	+	30	6405	c.5926C>T	c.(5926-5928)Cgt>Tgt	p.R1976C	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1976					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGATTTTTACCGTGTGGTATC	0.373000													8	7					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133271	104133271	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:104133271C>T	ENST00000259407.2	-	2	524	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	BAAT_ENST00000395051.3_Missense_Mutation_p.R139Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	139					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AACCTTAATTCGTGTGACACC	0.433000													14	57					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108550156	108550156	+	Silent	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:108550156T>G	ENST00000526794.1	+	6	749	c.717T>G	c.(715-717)gtT>gtG	p.V239V	DDX10_ENST00000322536.3_Silent_p.V239V			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	239	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGAATGCTGTTATTGAAAATC	0.363000			T	NUP98	AML*								30	73					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53680469	53680469	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:53680469G>A	ENST00000257934.4	+	18	4040	c.3949G>A	c.(3949-3951)Gga>Aga	p.G1317R	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1317R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1317					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AAAACGTTCTGGACGAGGGCG	0.537000													12	28					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125885396	125885396	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:125885396G>A	ENST00000392693.3	-	7	1065	c.938C>T	c.(937-939)tCc>tTc	p.S313F	CDON_ENST00000263577.7_Missense_Mutation_p.S313F	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	313	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TTTAGAAATGGAAGCATGTTC	0.403000													8	18					0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55604358	55604358	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:55604358G>A	ENST00000294383.6	-	26	2850	c.2851C>T	c.(2851-2853)Cat>Tat	p.H951Y	USP24_ENST00000407756.1_Missense_Mutation_p.H791Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	951					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAGGCACCATGAGGTAGAATA	0.363000													8	11					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:33031217G>A	ENST00000340811.4	-	3	705	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_ENST00000070846.6_Silent_p.I199I	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000													20	33					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551590	248551590	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:248551590G>A	ENST00000355728.2	+	1	681	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGTGCATCAGATGACATCGG	0.507000													18	46					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952197	96952197	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:96952197G>A	ENST00000323853.5	-	29	3932	c.3855C>T	c.(3853-3855)tcC>tcT	p.S1285S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1285	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTGCCGGAAGGAGACAGGCA	0.547000													17	62					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593661	55593661	+	Missense_Mutation	SNP	T	T	C	rs121913513		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:55593661T>C	ENST00000288135.5	+	11	1824	c.1727T>C	c.(1726-1728)cTt>cCt	p.L576P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	576					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.L576P(63)|p.Y570_L576del(9)|p.L576del(6)|p.V560_L576del(4)|p.N564_L576del(2)|p.I571_L576del(2)|p.I563_L576del(2)|p.Q556_L576del(2)|p.Q575_P577>T(2)|p.N564_Y578del(2)|p.V569_L576del(1)|p.N567_L576>E(1)|p.E561_P577del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.I571_N587del(1)|p.V569_L576>G(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAACACAACTTCCTTATGAT	0.408000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				33	29					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197194356	197194356	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:197194356C>T	ENST00000260983.2	-	5	696	c.514G>A	c.(514-516)Gag>Aag	p.E172K	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	172	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCACCTCCCTCCATGCCTTCT	0.413000													25	46					0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116038540	116038540	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:116038540G>A	ENST00000603594.1	+	8	1084	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	VWA2_ENST00000392982.3_Missense_Mutation_p.G255S	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	255						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GGAGTTCGCTGGCAATGCCCC	0.647000													43	52					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113331214	113331214	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:113331214G>A	ENST00000263331.5	+	14	2927	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K	POLR1B_ENST00000537335.1_Missense_Mutation_p.E572K|POLR1B_ENST00000409894.3_Missense_Mutation_p.E600K|POLR1B_ENST00000541869.1_Missense_Mutation_p.E821K|POLR1B_ENST00000417433.2_Missense_Mutation_p.E727K	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	783					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGACCTCTCTGAAAAAATTAA	0.433000													17	35					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71718470	71718470	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:71718470C>T	ENST00000393695.3	-	21	5559	c.5228G>A	c.(5227-5229)cGt>cAt	p.R1743H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R607H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1729H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1743					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCTGGGTACGAGGCAGCTT	0.547000			T	RARA	APL								4	19					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21438662	21438662	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:21438662G>A	ENST00000313654.9	+	34	4532	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1431K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1431	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAAATGTAGAAGGCACAGA	0.383000													15	40					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189862427	189862427	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:189862427G>A	ENST00000304636.3	+	27	2041	c.1869_splice	c.e27-1	p.G624_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G624_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	624	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTTTTCTAGGGGCCTGGTGGT	0.378000													9	16					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40841644	40841644	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:40841644C>T	ENST00000254691.5	+	1	359	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	CARD6_ENST00000381677.3_Silent_p.L54L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	54	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TACAGATCTCCTGAAGAAAAG	0.408000													15	43					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30925227	30925227	+	Missense_Mutation	SNP	G	G	A	rs146129845		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:30925227G>A	ENST00000597505.1	-	30	4311	c.4312C>T	c.(4312-4314)Ctt>Ttt	p.L1438F	DCDC1_ENST00000339794.5_Missense_Mutation_p.L517F|DCDC1_ENST00000406071.2_Missense_Mutation_p.L173F			P59894	DCDC1_HUMAN	doublecortin domain containing 1	199					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTCTGTAAGAAGCTAGATA	0.398000													5	2					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11721022	11721022	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:11721022G>A	ENST00000389825.3	+	6	946	c.635G>A	c.(634-636)gGc>gAc	p.G212D	GREB1_ENST00000381486.2_Intron|GREB1_ENST00000381483.2_Intron|GREB1_ENST00000234142.5_Intron|GREB1_ENST00000263834.5_Intron			Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	0						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCAGAGGGGGCATGGGAGCT	0.637000													6	10					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165040	124165040	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:124165040C>T	ENST00000360013.3	+	20	3467	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C	KALRN_ENST00000460856.1_Missense_Mutation_p.R1105C|KALRN_ENST00000240874.3_Missense_Mutation_p.R1114C	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1114					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGGGAGAATCGCGTGCTGCA	0.557000													17	29					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455080	187455080	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:187455080G>A	ENST00000307161.5	-	2	1017	c.816C>T	c.(814-816)atC>atT	p.I272I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	272					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCACTCTGGGATCCTAGGCA	0.502000													28	66					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	621126	621126	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:621126G>A	ENST00000588649.2	-	10	2656	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	858	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCGCTTCCGCAGCGGCTCC	0.687000													16	44					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134426258	134426258	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:134426258C>T	ENST00000370766.3	-	4	3262	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	185					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCCAGCTGTTCTTGTAGTACC	0.488000													22	67					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550597	8550597	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:8550597C>T	ENST00000348943.3	+	15	1400	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R429C	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	429	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGGCATGGATCGCGTGGGCTC	0.706000													66	133					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049125	9049125	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:9049125G>A	ENST00000397910.4	-	5	32709	c.32506C>T	c.(32506-32508)Ccc>Tcc	p.P10836S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10838	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						GTTGTCCAGGGAACTGTTGGG	0.473000													47	73					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141007683	141007683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:141007683G>A	ENST00000305264.3	-	9	842	c.763C>T	c.(763-765)Cag>Tag	p.Q255*		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	255	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AGTATTACCTGGAGCACAATG	0.537000													9	13					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396328	101396328	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:101396328C>T	ENST00000372774.3	-	3	226		c.e3-1		TCEAL6_ENST00000372773.1_Intron	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTTTCCTGTCCTGGGGGATGA	0.478000													11	25					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24602003	24602003	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:24602003C>G	ENST00000267426.5	+	2	1139	c.850C>G	c.(850-852)Cgt>Ggt	p.R284G	FITM1_ENST00000559294.1_Missense_Mutation_p.R88G	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	284					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTCTTCCCCCGTCCCCACTC	0.592000													21	53					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68555675	68555675	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:68555675G>A	ENST00000502604.1	+	6	650	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	CDK7_ENST00000513629.1_Intron|CDK7_ENST00000256443.3_Missense_Mutation_p.E147K|CDK7_ENST00000514676.1_Missense_Mutation_p.E110K			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	147	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTTGCTAGATGAAAATGGAGT	0.398000								Nucleotide excision repair (NER)					16	36					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216339	20216339	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:20216339C>T	ENST00000331723.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAGCCTGATCTTCGTGCCAT	0.463000													26	139					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549634	50549634	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:50549634C>T	ENST00000595661.1	+	6	2429	c.1934C>T	c.(1933-1935)cCt>cTt	p.P645L	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.P633L|ZNF473_ENST00000391821.2_Missense_Mutation_p.P645L|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Missense_Mutation_p.P645L			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	645					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAGGAGCACCCTTTTAAATGT	0.453000													14	24					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128331590	128331590	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:128331590G>A	ENST00000389524.4	+	7	741	c.688G>A	c.(688-690)Gcg>Acg	p.A230T	MYO7B_ENST00000409816.2_Missense_Mutation_p.A230T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A230T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	230	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GATCGAGGGCGCGCGCATCGA	0.577000													37	76					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66091826	66091826	+	Silent	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:66091826A>G	ENST00000344610.8	+	20	2966	c.2694A>G	c.(2692-2694)gaA>gaG	p.E898E	LEPR_ENST00000371059.3_Intron|LEPR_ENST00000371060.3_Intron|LEPR_ENST00000371058.1_Silent_p.E898E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000349533.6_Intron			P48357	LEPR_HUMAN	leptin receptor	0	Required for JAK2 activation (By similarity).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCACAAAGGAACTACTGGGTG	0.498000													4	10					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119567969	119567969	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:119567969C>T	ENST00000313400.4	-	13	2438	c.2338G>A	c.(2338-2340)Ggt>Agt	p.G780S	ASTN2_ENST00000373996.3_Missense_Mutation_p.G776S|ASTN2_ENST00000361209.2_Missense_Mutation_p.G729S|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	780						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTGTTGTAACCATGTAGCATC	0.473000													40	80					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15546152	15546152	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:15546152C>T	ENST00000428417.1	+	3	1121	c.675C>T	c.(673-675)gtC>gtT	p.V225V	TMEM51_ENST00000376014.3_Silent_p.V225V|TMEM51_ENST00000376008.2_Silent_p.V225V|TMEM51_ENST00000400796.3_Silent_p.V225V|TMEM51_ENST00000434578.2_3'UTR	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	225						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		ACAAAAACGTCCCTCCTCCCT	0.527000													43	79					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145698627	145698627	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:145698627C>T	ENST00000301332.2	+	17	2688	c.2311C>T	c.(2311-2313)Ccg>Tcg	p.P771S	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	771	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGCGCTCCTCCGGGACGCCT	0.706000													3	6					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006177	43006177	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:43006177G>A	ENST00000535468.1	-	25	4939	c.4853C>T	c.(4852-4854)cCc>cTc	p.P1618L	CUL7_ENST00000265348.3_Missense_Mutation_p.P1534L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1534					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCGACCTGGGTTCCTTGCT	0.562000													20	38					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104312989	104312989	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:104312989G>A	ENST00000389120.3	+	10	1284	c.1194G>A	c.(1192-1194)ttG>ttA	p.L398L		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	398					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GCCTACAGTTGAAAGCACACT	0.498000													53	111					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9778971	9778971	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:9778971G>T	ENST00000536656.1	+	9	1343	c.1135G>T	c.(1135-1137)Gcg>Tcg	p.A379S	PIK3CD_ENST00000377346.4_Missense_Mutation_p.A414S|PIK3CD_ENST00000361110.2_Missense_Mutation_p.A379S|PIK3CD_ENST00000543390.1_Missense_Mutation_p.A81S			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	414					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAAGAAGGCGGTGGGTCC	0.657000													18	29					2.94398e-08	2.99542e-08	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139908859	139908859	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:139908859C>T	ENST00000297183.6	+	29	6452	c.6328C>T	c.(6328-6330)Ccc>Tcc	p.P2110S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.P2110S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P493S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2110S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGACATCACCCAGAATGGT	0.463000													62	52					0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906341	5906341	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:5906341C>T	ENST00000316987.2	+	1	841	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACTATATCCATATTCTTT	0.418000													25	50					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54396440	54396440	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:54396440C>T	ENST00000303450.4	+	2	835	c.765C>T	c.(763-765)acC>acT	p.T255T	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.T255T	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	255					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AAGAGAAAACCGACAAGGAGC	0.502000													22	48					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19609453	19609453	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:19609453C>T	ENST00000404158.1	+	10	1544	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	GATAD2A_ENST00000360315.3_Silent_p.L376L|GATAD2A_ENST00000252577.5_Silent_p.L376L|GATAD2A_ENST00000429563.2_Silent_p.L203L|GATAD2A_ENST00000358713.3_Silent_p.L376L|GATAD2A_ENST00000537887.1_Silent_p.L4L			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	376					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GATGAACTTCCTGCCCAGCGC	0.642000													13	25					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651433	142651433	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:142651433C>T	ENST00000355265.2	-	8	1236	c.762G>A	c.(760-762)ctG>ctA	p.L254L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	254					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGCTGATTCAGGTAAGTCA	0.532000													45	49					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105971913	105971913	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:105971913G>A	ENST00000357060.3	-	5	702	c.587C>T	c.(586-588)tCg>tTg	p.S196L	WDR96_ENST00000278064.2_Missense_Mutation_p.S126L|WDR96_ENST00000369719.1_Missense_Mutation_p.S126L|WDR96_ENST00000369720.1_Missense_Mutation_p.S126L|WDR96_ENST00000428666.1_Missense_Mutation_p.S196L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	196										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAATTTCACCGACCTGTAGAC	0.428000													12	23					0	0	1	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803876	160803876	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:160803876G>A	ENST00000392781.2	-	8	1414	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.H223Y|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.H223Y|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.H223Y|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.H223Y|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.H223Y	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	223					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TAAGAAATATGGGTTTTTTGG	0.358000													12	28					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580970	22580970	+	RNA	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:22580970T>C	ENST00000390454.2	+	0	389																											TGTAGGAACCTACTTCTGTGC	0.507000													5	7					0	0	1	0	0
LEPREL2	10536	broad.mit.edu	37	12	6939805	6939805	+	RNA	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:6939805C>A	ENST00000251761.8	+	0	889				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						CTCTGCAGGACACTGGATTCA	0.612000													6	11					0.00116845	0.00117778	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7370092	7370092	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:7370092G>A	ENST00000311403.4	-	3	368	c.29C>T	c.(28-30)cCg>cTg	p.P10L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P10L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GGCATGGGACGGGTCCGTCAC	0.652000													4	5					0	0	1	0	0
PIM1	5292	broad.mit.edu	37	6	37138791	37138791	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:37138791C>T	ENST00000373509.5	+	3	597	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	166					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	p.S75F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GACCGGATTTCCGACTGGGGA	0.701000			T	BCL6	NHL								42	67					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109614057	109614057	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:109614057C>T	ENST00000338432.7	+	9	1545	c.1426C>T	c.(1426-1428)Ctt>Ttt	p.L476F	ACACB_ENST00000377848.3_Missense_Mutation_p.L476F|ACACB_ENST00000377854.5_Missense_Mutation_p.L476F|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	476	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTTCCCGATCCTTTTCAGACA	0.473000													69	105					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38407158	38407158	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:38407158C>T	ENST00000207870.3	+	6	528	c.438C>T	c.(436-438)tgC>tgT	p.C146C	XYLB_ENST00000542835.1_Silent_p.C9C	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	146					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CAGCCCAGTGCCGCCAGCTGG	0.652000													14	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412482	179412482	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179412482C>T	ENST00000589042.1	-	339	94095	c.93871G>A	c.(93871-93873)Gaa>Aaa	p.E31291K	TTN_ENST00000591111.1_Missense_Mutation_p.E29650K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22351K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E28723K|TTN_ENST00000460472.2_Missense_Mutation_p.E22226K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22418K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29650	Fibronectin type-III 128.						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)			GCTGTATTTTCCAGGGTCAAG	0.468000													16	26					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123838992	123838992	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:123838992G>A	ENST00000422452.2	-	5	949	c.886C>T	c.(886-888)Cct>Tct	p.P296S	TENM1_ENST00000371130.3_Missense_Mutation_p.P296S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTGCTTCGAGGAAGAGGCCTG	0.527000													51	134					0	0	1	0	0
DNAJC1	64215	broad.mit.edu	37	10	22048182	22048182	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:22048182G>A	ENST00000376980.3	-	11	1803	c.1513C>T	c.(1513-1515)Ctg>Ttg	p.L505L		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	505	SANT 2.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCCAGTTCCAGAAGTTTCTGT	0.532000													43	90					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254128	158254128	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:158254128C>T	ENST00000296526.7	+	7	1365	c.1040C>T	c.(1039-1041)gCc>gTc	p.A347V	GRIA2_ENST00000507898.1_Missense_Mutation_p.A300V|GRIA2_ENST00000393815.2_Missense_Mutation_p.A300V|GRIA2_ENST00000449365.1_Missense_Mutation_p.A300V|GRIA2_ENST00000264426.9_Missense_Mutation_p.A347V	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	347					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATAGAAAGGGCCCTCAAACAG	0.433000													15	23					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551670	111551670	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:111551670G>A	ENST00000389811.4	+	5	488	c.264G>A	c.(262-264)ggG>ggA	p.G88G	ACOXL_ENST00000439055.1_Silent_p.G88G|ACOXL_ENST00000340561.4_Silent_p.G88G			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	88					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AATACACTGGGATGTTTGCAA	0.527000													23	36					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058785	79058785	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:79058785G>A	ENST00000388820.4	-	19	3678	c.3468C>T	c.(3466-3468)ttC>ttT	p.F1156F		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1156					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						CCTCAGGCAGGAAATTGATCA	0.662000													5	8					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465098	51465098	+	Silent	SNP	G	G	A	rs140476582		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:51465098G>A	ENST00000376851.3	-	5	923	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	KLK6_ENST00000456750.2_Silent_p.L55L|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Silent_p.L162L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000391808.1_Silent_p.L55L|KLK6_ENST00000310157.2_Silent_p.L162L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	162	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGGGACACCAGGTGGATGTAT	0.577000													29	37					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237664042	237664042	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:237664042C>T	ENST00000366574.2	+	21	2552	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	RYR2_ENST00000542537.1_Silent_p.N729N|RYR2_ENST00000360064.6_Silent_p.N743N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	745	B30.2/SPRY 1.				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)			GCTCACCAAACCAACATCTGT	0.408000													64	181					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13868454	13868454	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:13868454C>T	ENST00000284951.5	-	8	780	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	SEL1L2_ENST00000378072.5_Missense_Mutation_p.E236K|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	236						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGGGCAACTTCACAATTCTGT	0.308000													18	52					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450935	55450935	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:55450935G>A	ENST00000446217.1	-	6	1738	c.1336C>T	c.(1336-1338)Ctg>Ttg	p.L446L	NLRP7_ENST00000328092.5_Silent_p.L418L|NLRP7_ENST00000448121.2_Silent_p.L418L|NLRP7_ENST00000340844.2_Silent_p.L418L|NLRP7_ENST00000590030.1_Silent_p.L418L|NLRP7_ENST00000588756.1_Silent_p.L418L|NLRP7_ENST00000592784.1_Silent_p.L418L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	418	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCGCGGCCAGGAGGCTCAGC	0.711000													19	32					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48919391	48919391	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:48919391G>A	ENST00000263269.3	+	7	1802	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	572						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAATGGCACGGTGTCCCCCTC	0.642000													13	29					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175666465	175666465	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:175666465G>A	ENST00000409900.3	-	12	1491	c.1178C>T	c.(1177-1179)aCc>aTc	p.T393I	CHN1_ENST00000409156.3_Missense_Mutation_p.T367I|CHN1_ENST00000295497.7_Missense_Mutation_p.T268I|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.T209I	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	393	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			GTACCGGAGGGTTTCGCAGTG	0.418000			T	TAF15	extraskeletal myxoid chondrosarcoma								34	54					0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526579	102526579	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:102526579C>T	ENST00000321521.9	+	28	3899	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P1109L|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P1130L			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1130					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTATTTGTCCTCTAGAAACT	0.348000													19	27					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101736063	101736063	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr13:101736063C>T	ENST00000251127.6	-	31	3663	c.3583_splice	c.e31+1	p.P1194_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1194						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.P1194P(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTGGGTACCCGGGCGAGGCG	0.498000													5	29					0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100809068	100809068	+	Silent	SNP	T	T	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:100809068T>A	ENST00000372829.3	+	4	1526	c.1155T>A	c.(1153-1155)atT>atA	p.I385I		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	385						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ATAGAGAGATTCTTCTTAATA	0.343000													14	22					0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8536400	8536400	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:8536400G>A	ENST00000262648.3	-	8	1229	c.1080C>T	c.(1078-1080)atC>atT	p.I360I		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	360	Fibronectin type-III 2.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTTTCTCCAGGATCACAGAAT	0.428000													16	25					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101362377	101362377	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:101362377C>T	ENST00000344327.3	-	3	1462	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	TRPC6_ENST00000360497.4_Silent_p.L346L|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.L346L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	346					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CATCCCCATTCAGAATGGCCT	0.418000													33	52					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901241	24901241	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:24901241G>A	ENST00000251343.5	+	3	913	c.774G>A	c.(772-774)gaG>gaA	p.E258E	KHNYN_ENST00000556842.1_Silent_p.E258E|KHNYN_ENST00000553935.1_Silent_p.E258E			O15037	KHNYN_HUMAN	KH and NYN domain containing	258										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAGAAGGAGGGAGGGAAAC	0.622000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	32					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038445	131038445	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:131038445G>A	ENST00000320188.4	+	1	21	c.21G>A	c.(19-21)agG>agA	p.R7R		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	7					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GTGGCCAGAGGGACCTGTGGC	0.642000													37	87					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152842	151152842	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:151152842G>A	ENST00000367328.1	+	16	2907	c.2595G>A	c.(2593-2595)aaG>aaA	p.K865K	PLEKHG1_ENST00000358517.2_Silent_p.K865K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	865					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGTGAGCAAGGATGATGTGC	0.562000													20	49					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951755	30951755	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:30951755C>T	ENST00000402321.1	-	3	774	c.457G>A	c.(457-459)Gtg>Atg	p.V153M	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.V153M|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.V153M|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.V153M|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.V153M|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.V153M|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.V153M			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	153					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGTCGGCACCAGGCCGCGC	0.647000													44	82					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742067	121742067	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:121742067C>T	ENST00000452319.1	+	12	1764	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	GLI2_ENST00000314490.11_Silent_p.I240I|GLI2_ENST00000361492.4_Silent_p.I568I|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	568					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)				TCTGCAAGATCCCAGGCTGCA	0.567000													89	178					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28058059	28058059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:28058059G>A	ENST00000263181.6	-	14	2391	c.2101C>T	c.(2101-2103)Cag>Tag	p.Q701*		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	701					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACAATAGGCTGAAGTTCTTTG	0.388000													16	27					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532922	113532922	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:113532922G>A	ENST00000257600.3	+	7	1965	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	488					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.E488*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						TGGGAAGATGGAGTTCCACCT	0.647000													23	44					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125514272	125514272	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:125514272G>A	ENST00000241305.3	-	13	2078	c.1924C>T	c.(1924-1926)Cgt>Tgt	p.R642C	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	642					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TTAATGCCACGATGAACCTGC	0.517000													26	47					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41845068	41845068	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:41845068G>A	ENST00000396930.3	-	4	1157	c.614C>T	c.(613-615)cCa>cTa	p.P205L	KAT6A_ENST00000406337.1_Missense_Mutation_p.P205L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P205L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P205L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	205					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GATGGGGATTGGTTCAGCAAC	0.378000													70	163					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60194132	60194132	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:60194132C>T	ENST00000267484.5	-	3	1605	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	424					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCGCGTCCTCCGCGGCCATG	0.706000													3	3					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75101274	75101274	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:75101274G>A	ENST00000310715.3	-	7	795	c.675C>T	c.(673-675)ccC>ccT	p.P225P	TTC18_ENST00000394865.1_Silent_p.P225P|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.P225P	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	225							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTTTGGGCCGGGGAACAGGTT	0.433000													21	33					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56234593	56234593	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:56234593C>T	ENST00000322569.4	-	4	469	c.378G>A	c.(376-378)cgG>cgA	p.R126R	MMP19_ENST00000409200.3_Silent_p.R126R|MMP19_ENST00000548629.1_Silent_p.R103R	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	126					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GCAGGGCTGCCCGGGCTGTGT	0.582000													36	71					0	0	1	0	0
RTP3	83597	broad.mit.edu	37	3	46541939	46541939	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:46541939G>A	ENST00000296142.3	+	2	821	c.249G>A	c.(247-249)caG>caA	p.Q83Q		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	83					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAGGGGCCAGGTGAAGATGA	0.522000													57	83					0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19039231	19039231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:19039231G>A	ENST00000379878.3	-	13	827	c.586C>T	c.(586-588)Cga>Tga	p.R196*	GPR64_ENST00000357544.3_Nonsense_Mutation_p.R182*|GPR64_ENST00000357991.3_Nonsense_Mutation_p.R209*|GPR64_ENST00000340581.3_Nonsense_Mutation_p.R182*|GPR64_ENST00000360279.4_Nonsense_Mutation_p.R190*|GPR64_ENST00000379869.3_Nonsense_Mutation_p.R212*|GPR64_ENST00000356606.4_Nonsense_Mutation_p.R198*|GPR64_ENST00000354791.3_Nonsense_Mutation_p.R196*|GPR64_ENST00000379873.2_Nonsense_Mutation_p.R212*|GPR64_ENST00000379876.1_Nonsense_Mutation_p.R188*	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	212					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCCATTGGTCGAATCTTTACT	0.279000													11	18					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057999	158057999	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:158057999C>T	ENST00000264428.4	+	6	841	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	GLRB_ENST00000541722.1_Missense_Mutation_p.P191S|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.P191S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	191					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACATTGTTTCCCATGGATAC	0.348000													10	25					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434209	22434209	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:22434209G>A	ENST00000390442.3	+	0	318																											AGCACAGGTCGATAAATCCAG	0.478000													64	108					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38891889	38891889	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:38891889C>A	ENST00000359357.3	+	71	10516	c.10262C>A	c.(10261-10263)cCt>cAt	p.P3421H	DNAH8_ENST00000449981.2_Missense_Mutation_p.P3638H|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3385H|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGGAAAATTCCTTTCACAGAA	0.358000													10	24					2.17888e-05	2.20215e-05	1	1	0
ABCC3	8714	broad.mit.edu	37	17	48741198	48741198	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:48741198C>T	ENST00000285238.8	+	9	1235	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ABCC3_ENST00000427699.1_Silent_p.I385I	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	385	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTACTGGGATCATGGGTGTCA	0.552000													24	42					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417184	130417184	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:130417184C>T	ENST00000370904.1	-	12	1605	c.695G>A	c.(694-696)gGa>gAa	p.G232E	IGSF1_ENST00000370910.1_Missense_Mutation_p.G232E|IGSF1_ENST00000361420.3_Missense_Mutation_p.G241E|IGSF1_ENST00000370903.3_Missense_Mutation_p.G241E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	241	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGCTTTCTCCAGGTGCCAT	0.478000													24	47					0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331532	107331532	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:107331532C>T	ENST00000335040.1	+	1	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAGTTTTCTTCGTTCTAATTT	0.428000													40	92					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34015839	34015839	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:34015839C>T	ENST00000373381.4	-	56	9031	c.8855G>A	c.(8854-8856)gGa>gAa	p.G2952E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2928	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTGCTGTTTCCCACCAGAGT	0.597000													23	51					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283788	151283788	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:151283788G>A	ENST00000509345.2	-	0	548																											GAGTGAAATCGATGGCAGTGG	0.617000													34	83					0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20769871	20769871	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:20769871C>T	ENST00000327925.5	-	3	680	c.561G>A	c.(559-561)cgG>cgA	p.R187R	CCDC144NL_ENST00000539484.1_Intron	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	187										large_intestine(3)|lung(3)|skin(1)	7						ctccaggcccccgtgggtgcc	0.612000													4	6					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436119	11436119	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:11436119G>A	ENST00000222120.3	-	5	875	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RAB3D_ENST00000589655.1_Silent_p.A205A|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	205					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CATCCCCCACGGCCGGGCCTT	0.657000													16	24					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391937	23391937	+	Missense_Mutation	SNP	G	G	A	rs80311498		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:23391937G>A	ENST00000343070.2	+	13	1914	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SCNN1B_ENST00000568923.1_Missense_Mutation_p.E553K|SCNN1B_ENST00000568085.1_Missense_Mutation_p.E544K|SCNN1B_ENST00000307331.5_Missense_Mutation_p.E625K	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	580					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CACCGTGGCCGAGCTGGTGGA	0.677000													37	73					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103744	6103744	+	Silent	SNP	A	A	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:6103744A>C	ENST00000261405.5	-	36	6347	c.6093T>G	c.(6091-6093)gtT>gtG	p.V2031V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2031	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACGTAAGGAACAGAGACCA	0.468000													23	53					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965035	46965035	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:46965035C>T	ENST00000374323.3	-	5	1656	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.G304S|SYT15_ENST00000374321.4_Missense_Mutation_p.G304S|SYT15_ENST00000374325.3_Missense_Mutation_p.G304S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	304	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						AGCCGGAGGCCCTTGGCACGC	0.637000													13	38					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402085	89402085	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:89402085G>A	ENST00000439576.2	+	12	6643	c.6269G>A	c.(6268-6270)gGa>gAa	p.G2090E	ACAN_ENST00000561243.1_Missense_Mutation_p.G2090E|ACAN_ENST00000352105.7_Missense_Mutation_p.G2090E|ACAN_ENST00000559004.1_Missense_Mutation_p.G2090E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2090					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGGTCTGGAGTAGAAGTA	0.572000													11	28					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													5	129					0	0	1	0	0
RAB35	11021	broad.mit.edu	37	12	120536616	120536616	+	Splice_Site	SNP	T	T	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:120536616T>A	ENST00000229340.5	-	5	664	c.477_splice	c.e5+1	p.E159_splice	RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron|RAB35_ENST00000432953.2_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	159					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GGGCCTCACCTCTTCCACGTT	0.582000													17	31					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145452	16145452	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:16145452C>T	ENST00000349606.4	+	5	1113	c.609C>T	c.(607-609)gcC>gcT	p.A203A	MYLIP_ENST00000356840.3_Silent_p.A384A			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	384	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGAAGGAAGCCATGCTGTGCA	0.602000													33	124					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45811714	45811714	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:45811714G>A	ENST00000358525.4	-	7	1200	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S362L|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S325L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	362					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GTCTAGCTCCGATTCCAAGCT	0.542000													21	31					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10770032	10770032	+	Silent	SNP	G	G	A	rs146297310	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:10770032G>A	ENST00000283025.2	-	5	941	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	290					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCTCAGGTACGGAGATCCTGC	0.567000													18	21					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841925	100841925	+	Missense_Mutation	SNP	C	C	T	rs139340331	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:100841925C>T	ENST00000223114.4	-	4	641	c.475G>A	c.(475-477)Gac>Aac	p.D159N	MOGAT3_ENST00000440203.2_Missense_Mutation_p.D159N|MOGAT3_ENST00000379423.3_Missense_Mutation_p.D159N	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	159					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					ATGATGTAGTCGCGATAGACC	0.612000													15	42					0	0	1	0	0
MXD3	83463	broad.mit.edu	37	5	176737467	176737467	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:176737467G>A	ENST00000427908.2	-	4	348	c.281C>T	c.(280-282)aCc>aTc	p.T94I	MXD3_ENST00000423571.2_Missense_Mutation_p.T94I|MXD3_ENST00000439742.2_Missense_Mutation_p.T94I|MXD3_ENST00000513063.1_Missense_Mutation_p.T94I	NM_001142935.1	NP_001136407.1	Q9BW11	MAD3_HUMAN	MAX dimerization protein 3	94	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCAGCGTGGTGTACCGGGC	0.682000													11	29					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6103743	6103743	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:6103743G>A	ENST00000261405.5	-	36	6348	c.6094C>T	c.(6094-6096)Cct>Tct	p.P2032S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2032	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCACGTAAGGAACAGAGACC	0.463000													23	55					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828852	76828852	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:76828852C>T	ENST00000248598.5	-	1	291	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	87					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTTACGATTTCCTTGAGGTTT	0.507000													27	81					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49435127	49435127	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:49435127G>T	ENST00000301067.7	-	31	6425	c.6426C>A	c.(6424-6426)ttC>ttA	p.F2142L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGGCTTCAGGAACCCGTCCG	0.706000													3	7					0.00909568	0.00911977	1	1	0
GLCCI1	113263	broad.mit.edu	37	7	8043646	8043646	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:8043646C>T	ENST00000223145.5	+	2	1123	c.566C>T	c.(565-567)cCt>cTt	p.P189L	AC006465.3_ENST00000469183.1_3'UTR|GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	189										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CCACGGGATCCTCATGTTCAC	0.438000													34	53					0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177495	35177495	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:35177495A>C	ENST00000279022.2	+	4	466	c.362A>C	c.(361-363)gAc>gCc	p.D121A	MYL9_ENST00000346786.2_Missense_Mutation_p.D67A|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	121	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATCCATGAGGACCACCTCCGG	0.602000													19	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640923	179640923	+	Missense_Mutation	SNP	G	G	A	rs146496197	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179640923G>A	ENST00000589042.1	-	28	5892	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C	TTN_ENST00000591111.1_Missense_Mutation_p.R1890C|TTN_ENST00000359218.5_Missense_Mutation_p.R1844C|TTN_ENST00000342992.6_Missense_Mutation_p.R1890C|TTN_ENST00000460472.2_Missense_Mutation_p.R1844C|TTN_ENST00000342175.6_Missense_Mutation_p.R1844C|TTN_ENST00000360870.5_Missense_Mutation_p.R1890C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1605	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1844C(3)|p.R1890C(2)		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)			CCATCATAGCGAACTCTGAAC	0.498000													79	143					0	0	1	0	0
APOL6	80830	broad.mit.edu	37	22	36055246	36055246	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:36055246C>T	ENST00000409652.3	+	3	911	c.635C>T	c.(634-636)tCc>tTc	p.S212F		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	212					lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						CAAGTCTCCTCCCGGAGCCGC	0.557000													27	66					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051191	44051191	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:44051191G>A	ENST00000405322.1	-	6	1568	c.672C>T	c.(670-672)atC>atT	p.I224I	ABCG5_ENST00000260645.1_Silent_p.I395I|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	395	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACAAACCCATGATCAGATTCT	0.468000													27	26					0	0	1	0	0
AKT3	10000	broad.mit.edu	37	1	243736334	243736334	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:243736334G>A	ENST00000366539.1	-	9	913	c.713C>T	c.(712-714)tCg>tTg	p.S238L	AKT3_ENST00000263826.5_Missense_Mutation_p.S238L|AKT3_ENST00000336199.5_Missense_Mutation_p.S238L|AKT3_ENST00000366540.1_Missense_Mutation_p.S238L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	238	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CCGCTCTCTCGACAAATGGAA	0.438000													5	23					0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442376	22442376	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:22442376C>T	ENST00000265810.4	+	3	403	c.288C>T	c.(286-288)tcC>tcT	p.S96S	PDLIM2_ENST00000409417.1_Silent_p.S96S|PDLIM2_ENST00000339162.7_Silent_p.S96S|PDLIM2_ENST00000409141.1_Silent_p.S96S|PDLIM2_ENST00000397760.4_Silent_p.S96S|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Silent_p.S96S|PDLIM2_ENST00000308354.7_Silent_p.S346S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	96						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GGGACAGCTCCTTGGAAGTGC	0.622000													28	55					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98182358	98182358	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:98182358G>A	ENST00000357947.3	-	6	990	c.765C>T	c.(763-765)acC>acT	p.T255T	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	255	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTCTGGCCGGGTGTGTTCAT	0.562000													18	30					0	0	1	0	0
CD19	930	broad.mit.edu	37	16	28944407	28944407	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:28944407G>A	ENST00000538922.1	+	3	593	c.531G>A	c.(529-531)agG>agA	p.R177R	CD19_ENST00000324662.3_Silent_p.R177R|CD19_ENST00000567541.1_Silent_p.R177R	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	177	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						TCCCACCGAGGGACAGCCTGA	0.632000													10	22					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354331	57354331	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:57354331C>T	ENST00000314922.3	-	2	380	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	PENK_ENST00000451791.2_Missense_Mutation_p.G102S|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	102					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCATGAAGCCCCCATACCTT	0.498000													30	54					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395897	156395897	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:156395897C>T	ENST00000461166.1	+	2	999	c.411C>T	c.(409-411)atC>atT	p.I137I	TIPARP_ENST00000486483.1_Silent_p.I137I|TIPARP_ENST00000542783.1_Silent_p.I137I|TIPARP_ENST00000295924.7_Silent_p.I137I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	137							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.I137I(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGTTCCAATCCAAGATCACA	0.478000													36	64					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120166520	120166520	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:120166520G>A	ENST00000450251.1	+	2	717	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	USP53_ENST00000274030.6_Missense_Mutation_p.R58Q			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	58					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.R58Q(1)		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						ATATTCCGACGAAGCTTGCGG	0.338000													17	34					0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45583411	45583411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:45583411C>T	ENST00000355765.6	+	12	1953	c.1783C>T	c.(1783-1785)Caa>Taa	p.Q595*		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	595					mRNA processing|RNA splicing	nucleus	binding	p.Q474E(1)		breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						TGATGAACATCAAACACTCCT	0.318000													7	16					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104084348	104084348	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:104084348T>A	ENST00000265148.3	-	18	1877	c.1788A>T	c.(1786-1788)gaA>gaT	p.E596D	CENPE_ENST00000380026.3_Missense_Mutation_p.E571D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	596					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGTCTATGTATTCCTGTAGCT	0.308000													14	19					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092380	30092380	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:30092380C>T	ENST00000567636.1	+	0	755					NR_003558.1																						ACGTGGTGTTCCACATTTGCC	0.562000													26	31					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605378	84605378	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:84605378G>A	ENST00000344803.2	+	3	326	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AAGAGGAAAGGAAGCTGCTTT	0.418000													3	13					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115341847	115341847	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:115341847C>T	ENST00000351270.3	+	9	1147	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.L325L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	351	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGGTGGGGCGCTGATCCACCC	0.672000													12	33					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18789862	18789862	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:18789862G>A	ENST00000396576.2	+	4	914	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CACNB2_ENST00000377329.4_Missense_Mutation_p.G139E|CACNB2_ENST00000352115.6_Missense_Mutation_p.G193E|CACNB2_ENST00000324631.7_Missense_Mutation_p.G193E|CACNB2_ENST00000377315.4_Missense_Mutation_p.G145E|CACNB2_ENST00000282343.8_Missense_Mutation_p.G165E|CACNB2_ENST00000377331.2_Missense_Mutation_p.G165E|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377319.3_Missense_Mutation_p.G138E	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	193	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCCAAGCAAGGGAAATTCTAC	0.413000													9	20					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58567483	58567483	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:58567483C>T	ENST00000348616.4	+	10	1634	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	CDH26_ENST00000244047.5_Missense_Mutation_p.S445F	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	445	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GACAAAAACTCCGGAGTGGTC	0.398000													10	10					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120924285	120924285	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:120924285C>T	ENST00000422003.2	+	4	487	c.299C>T	c.(298-300)cCt>cTt	p.P100L	TBCEL_ENST00000529397.1_Missense_Mutation_p.P100L	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	100						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)		TCAAATGTTCCTCAGTTGGAG	0.408000													20	49					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753129	49753129	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:49753129C>T	ENST00000327697.6	+	32	3276	c.3132C>T	c.(3130-3132)ttC>ttT	p.F1044F	RNF123_ENST00000433785.1_Silent_p.F156F	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1044						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCTCTGAATTCATTGGCATGA	0.597000													25	42					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977786	196977786	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:196977786G>A	ENST00000367414.5	+	10	1811	c.1755G>A	c.(1753-1755)ggG>ggA	p.G585G	CFHR5_ENST00000256785.4_Silent_p.G561G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	561					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GTCAGGAAGGGAAATTTGAAT	0.358000													18	35					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154585852	154585852	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:154585852C>T	ENST00000404039.1	+	11	1595	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	DPP6_ENST00000427557.1_Silent_p.N293N|DPP6_ENST00000377770.3_Silent_p.N400N|DPP6_ENST00000332007.3_Silent_p.N338N	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	400					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCTGGCTGAACCGGGCGCAGA	0.637000													22	16					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574075	28574075	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:28574075G>A	ENST00000220562.4	+	3	1401	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	167						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.G167S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGACGATGCCGGCCTCCCTCC	0.602000													22	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091098	9091098	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:9091098G>A	ENST00000397910.4	-	1	920	c.717C>T	c.(715-717)gaC>gaT	p.D239D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	239	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						TAGGTGATAGGTCAAGGAAGG	0.483000													11	38					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41192218	41192218	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:41192218C>T	ENST00000220509.5	+	4	1541	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	401					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTCTGGCGCACCTATCTGGAC	0.617000													47	83					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155094475	155094475	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:155094475C>T	ENST00000342407.5	+	3	529	c.431C>T	c.(430-432)tCc>tTc	p.S144F	INSIG1_ENST00000344756.4_Silent_p.F89F|INSIG1_ENST00000340368.4_Silent_p.F241F	NM_198337.2	NP_938151.1	O15503	INSI1_HUMAN	insulin induced gene 1	0					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCAGATTTCCTCTATATTC	0.433000													21	73					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983604	223983604	+	Silent	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:223983604T>G	ENST00000391878.2	-	14	3018	c.2250A>C	c.(2248-2250)ccA>ccC	p.P750P	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.P879P|TP53BP2_ENST00000391879.2_Silent_p.P112P	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	873					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CAGATGGGTATGGTGGGGGTG	0.562000													23	55					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287536	155287536	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:155287536G>A	ENST00000357232.3	-	5	519	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	DCHS2_ENST00000339452.1_Missense_Mutation_p.H768Y	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	174	Cadherin 1.		H -> R (in dbSNP:rs10017772).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACACAGGATGATTATCATTC	0.498000													10	25					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8628784	8628784	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:8628784G>T	ENST00000382073.3	+	5	619	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	145	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					agacccacaaggtaataataa	0.378000													20	37					1.22574e-08	1.24883e-08	1	1	0
WDR47	22911	broad.mit.edu	37	1	109533908	109533908	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:109533908G>A	ENST00000357672.3	-	8	2026	c.1651C>T	c.(1651-1653)Cca>Tca	p.P551S	WDR47_ENST00000369965.4_Missense_Mutation_p.P580S|WDR47_ENST00000400794.3_Missense_Mutation_p.P587S|WDR47_ENST00000361054.3_Missense_Mutation_p.P551S|WDR47_ENST00000369962.3_Missense_Mutation_p.P579S			O94967	WDR47_HUMAN	WD repeat domain 47	579										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGACTCCCTGGAGAATCTCCA	0.368000													17	37					0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13399936	13399936	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:13399936G>A	ENST00000389708.3	+	17	1917	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	ARNTL_ENST00000403510.3_Silent_p.R445R|ARNTL_ENST00000396441.3_Silent_p.R488R|ARNTL_ENST00000389707.4_Silent_p.R488R|ARNTL_ENST00000403290.1_Silent_p.R489R|ARNTL_ENST00000403482.3_Silent_p.R487R|ARNTL_ENST00000361003.4_Silent_p.R371R|ARNTL_ENST00000401424.1_Silent_p.R446R			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	0					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		GGGGAACCCGGGCTGGGGCAG	0.502000													6	10					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117258093	117258093	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:117258093C>T	ENST00000278935.3	+	15	2046	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	633	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGAGGAGATCCTCCGGCTTC	0.577000													23	50					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46761273	46761273	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:46761273G>A	ENST00000394809.4	-	8	1904	c.1789C>T	c.(1789-1791)Ctc>Ttc	p.L597F	MYLK3_ENST00000536476.1_Missense_Mutation_p.L256F	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	597	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGGTCGAAGAGCTCACCCCCG	0.567000													4	16					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587855	247587855	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:247587855C>T	ENST00000366497.2	+	4	1890	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	NLRP3_ENST00000366496.2_Silent_p.I370I|NLRP3_ENST00000348069.2_Silent_p.I370I|NLRP3_ENST00000336119.3_Silent_p.I370I|NLRP3_ENST00000391827.2_Silent_p.I370I|NLRP3_ENST00000391828.3_Silent_p.I370I|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	370	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGTGGAGATCCTGGGTTTCT	0.552000													16	37					0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993355	21993355	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr14:21993355G>A	ENST00000327430.3	-	2	801	c.507C>T	c.(505-507)ccC>ccT	p.P169P	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	169	Poly-Pro.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTACCCCTGGGGGCGGAGGGG	0.622000													18	33					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142315	55142315	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:55142315G>A	ENST00000370862.3	+	5	1236	c.900G>A	c.(898-900)agG>agA	p.R300R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	300					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAGCCAGAAGGAAAACAGCCC	0.488000													12	26					0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31945059	31945059	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr12:31945059C>T	ENST00000340398.3	-	1	116	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	14					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGGGGGCTTTCCCACCGGTGG	0.617000										HNSCC(67;0.2)			20	38					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31656873	31656873	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:31656873G>A	ENST00000375842.4	-	13	1434	c.448C>T	c.(448-450)Cca>Tca	p.P150S	ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.P369S|ABHD16A_ENST00000440843.2_Missense_Mutation_p.P336S			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	369						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTAACATCTGGGTAGGACATG	0.572000													10	31					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82950163	82950163	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:82950163G>A	ENST00000306270.7	-	2	590	c.41C>T	c.(40-42)tCc>tTc	p.S14F	IBTK_ENST00000510291.1_Missense_Mutation_p.S14F|IBTK_ENST00000503631.1_Missense_Mutation_p.S14F	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	14					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	p.S14F(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATGCTTCAGGGATCGACACTT	0.398000													24	65					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9091097	9091097	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:9091097G>A	ENST00000397910.4	-	1	921	c.718C>T	c.(718-720)Cta>Tta	p.L240L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	240	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						TTAGGTGATAGGTCAAGGAAG	0.483000													11	37					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558994	113558994	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:113558994T>G	ENST00000284601.3	-	1	126	c.58A>C	c.(58-60)Aat>Cat	p.N20H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	20					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGATAAATTAGGAACTTCT	0.378000													29	67					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559685	46559685	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr13:46559685G>A	ENST00000242848.4	-	10	1815	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	ZC3H13_ENST00000282007.3_Silent_p.T489T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	489	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGCTCTCTTTGGTATCTCTGC	0.512000													40	93					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796662	109796662	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr8:109796662C>T	ENST00000297459.3	-	2	844	c.666G>A	c.(664-666)gcG>gcA	p.A222A	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	222					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCCCCAGCCTCGCACTCTCCT	0.612000													10	32					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684479	64684479	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:64684479G>A	ENST00000413366.3	+	7	772	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	249	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACTGGGATCGAACAACAAGG	0.463000													19	36					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829435	24829435	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:24829435C>T	ENST00000337539.7	+	2	522	c.63C>T	c.(61-63)atC>atT	p.I21I	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A_ENST00000496497.1_Intron|KB-1896H10.1_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000326341.4_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	21					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGCTGGCCATCCTGGGCAATG	0.632000													14	29					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36714312	36714312	+	Silent	SNP	G	G	A	rs114048959	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:36714312G>A	ENST00000216181.5	-	11	1397	c.1167C>T	c.(1165-1167)atC>atT	p.I389I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	389	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCGGGGTGAGGATTCCTCTGG	0.532000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				59	135					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103414377	103414377	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:103414377C>T	ENST00000412401.2	+	4	592	c.387C>T	c.(385-387)atC>atT	p.I129I	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Silent_p.I33I|TMEM182_ENST00000409173.1_Silent_p.I86I	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	129						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTGTAGTCATCGCAAGCTTTT	0.498000													24	45					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9489407	9489407	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:9489407C>T	ENST00000402466.1	+	16	2294	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L	SETD5_ENST00000407969.1_Missense_Mutation_p.P626L|SETD5_ENST00000302463.6_Missense_Mutation_p.P509L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.P607L|SETD5_ENST00000406341.1_Missense_Mutation_p.P607L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	607										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAGCCACCTCCAGCAAAGCCT	0.488000													36	93					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097471	85097471	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:85097471G>A	ENST00000335459.5	-	2	752	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R183C|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R183C	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.R183S(2)									GGCACTCCACGGGACTTAATG	0.547000													44	106					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092442	30092442	+	RNA	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:30092442C>T	ENST00000567636.1	+	0	817					NR_003558.1																						CTCCTCAAGTCGTGCAGATGT	0.547000													40	66					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45299139	45299139	+	Silent	SNP	C	C	T	rs150593274		TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:45299139C>T	ENST00000354968.1	+	5	533	c.405C>T	c.(403-405)ttC>ttT	p.F135F	MYL4_ENST00000572316.1_Silent_p.F135F|MYL4_ENST00000393450.1_Silent_p.F135F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	135	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						ATGAGGACTTCGTGGAGGGCC	0.567000													35	46					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43671477	43671477	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:43671477A>G	ENST00000374466.3	+	7	1668	c.1333A>G	c.(1333-1335)Att>Gtt	p.I445V		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	445					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTCCTGACCATTGGTAAGTA	0.333000													18	31					0	0	1	0	0
FLYWCH2	114984	broad.mit.edu	37	16	2946666	2946666	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:2946666C>T	ENST00000396958.3	+	3	596	c.216C>T	c.(214-216)ggC>ggT	p.G72G	FLYWCH2_ENST00000572006.1_Silent_p.G72G|FLYWCH2_ENST00000293981.6_Silent_p.G72G	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2	72										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						GGGTGCCCGGCCCCGCCACCC	0.677000													29	57					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93077127	93077127	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:93077127G>A	ENST00000510627.4	-	1	216	c.143C>T	c.(142-144)cCg>cTg	p.P48L	FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	48						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCTGACTGCCGGCCAGACCAT	0.701000													16	35					0	0	1	0	0
VBP1	7411	broad.mit.edu	37	X	154464595	154464595	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:154464595C>T	ENST00000286428.5	+	5	587	c.470C>T	c.(469-471)tCc>tTc	p.S157F	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Missense_Mutation_p.S152F	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	157					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATCTTGATTCCCTGGAGGAA	0.363000													24	55					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919401	51919401	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:51919401C>T	ENST00000353836.5	-	5	996	c.775G>A	c.(775-777)Gga>Aga	p.G259R	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G259R|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G176R|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G201R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G201R|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G259R|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G211R	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	259	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGGACATTTCCCTGGGGCTGG	0.582000													7	8					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89499404	89499404	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:89499404G>A	ENST00000336596.2	+	15	2799	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	EPHA3_ENST00000494014.1_Silent_p.L858L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	858	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCTGATGCTGGACTGCTGGC	0.493000										TSP Lung(6;0.00050)			20	31					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620725	7620725	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:7620725C>T	ENST00000486284.1	+	8	2406	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.S711L|GRM7_ENST00000357716.4_Missense_Mutation_p.S711L|GRM7_ENST00000402647.2_Missense_Mutation_p.S711L|GRM7_ENST00000403881.1_Missense_Mutation_p.S711L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	711					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTTTAATATCAGTTCAGCTT	0.428000													13	25					0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123675693	123675693	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:123675693C>T	ENST00000373887.3	-	5	3063	c.618G>A	c.(616-618)aaG>aaA	p.K206K	TRAF1_ENST00000540010.1_Silent_p.K206K|TRAF1_ENST00000546084.1_Silent_p.K84K	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	206					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CCTCCACCTCCTTGTTGAGGA	0.602000													18	35					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308863	140308863	+	Missense_Mutation	SNP	A	A	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr5:140308863A>T	ENST00000253807.2	+	1	2386	c.2386A>T	c.(2386-2388)Att>Ttt	p.I796F	PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.I796F|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATCCTGTATTCAGATTCG	0.458000													31	27					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981769	85981769	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr10:85981769G>A	ENST00000372113.4	-	3	1565	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	LRIT2_ENST00000538192.1_Silent_p.S530S	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTTCTCTAAAGGAGCCATCCT	0.597000													50	79					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043514	74043514	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:74043514C>T	ENST00000409561.1	+	3	2285	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	722										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GATACCTTTGCCCTTTCTGAC	0.537000													59	116					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56330395	56330395	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:56330395G>A	ENST00000288221.6	-	3	981	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	242						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTCTTGCTGGAGGAGGTGGT	0.572000													30	53					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32934038	32934038	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr22:32934038C>T	ENST00000358763.2	-	9	1218	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	SYN3_ENST00000332840.5_Missense_Mutation_p.V326M	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	326	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTCATGGCCACCTGCTCCAGC	0.532000													24	38					0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137804444	137804444	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:137804444C>T	ENST00000371806.3	-	7	577	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	162	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CAGAGCCATCCATCCTCCGCT	0.627000													16	47					0	0	1	0	0
FBXO8	26269	broad.mit.edu	37	4	175158598	175158598	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr4:175158598C>T	ENST00000393674.2	-	6	1787	c.925G>A	c.(925-927)Gac>Aac	p.D309N	FBXO8_ENST00000503293.1_Missense_Mutation_p.D268N	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	309					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		TAGATATTGTCATAAAGATGC	0.378000													23	53					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396520	9396520	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr18:9396520C>T	ENST00000262120.5	+	4	657	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	TWSG1_ENST00000581641.1_Missense_Mutation_p.H156Y	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	156										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CAATAATGTTCACGCGCCTTA	0.423000													7	45					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406701	158406701	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:158406701G>A	ENST00000243349.7	-	4	1108	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F	ACVR1C_ENST00000348328.5_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.L200F|ACVR1C_ENST00000335450.7_Missense_Mutation_p.L170F	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	250	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGAAACCAAGGATGTTTTCA	0.393000													26	58					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835419	11835419	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:11835419G>A	ENST00000262442.3	+	64	12262	c.12194G>A	c.(12193-12195)cGa>cAa	p.R4065Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3989Q|DNAH9_ENST00000396001.2_Missense_Mutation_p.R377Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4065	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGAAAGACGAAAATTTGGG	0.498000													38	80					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77910306	77910306	+	Silent	SNP	C	C	T	rs150412236	byFrequency	TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:77910306C>T	ENST00000302536.2	+	5	915	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	254							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TGGATTGCCTCTGTGGGGACA	0.483000													34	33					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080576	5080576	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr11:5080576G>A	ENST00000321522.2	-	1	281	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTTCAAAGATGATCCCTCTGA	0.483000													8	15					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227917061	227917061	+	Silent	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:227917061T>C	ENST00000396625.3	-	32	3135	c.2928A>G	c.(2926-2928)gaA>gaG	p.E976E	COL4A4_ENST00000329662.7_Silent_p.E976E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	976	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)		GAGGTCCAGGTTCCCCAGGTG	0.393000													13	29					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67316753	67316753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:67316753G>A	ENST00000355520.5	-	19	2286	c.1645C>T	c.(1645-1647)Cag>Tag	p.Q549*	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Q549*	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	549	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ACTATGTTCTGGAATTTGATG	0.468000													28	73					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255087	70255087	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:70255087C>T	ENST00000342771.4	+	19	3206	c.2885C>T	c.(2884-2886)gCc>gTc	p.A962V	AUTS2_ENST00000406775.2_Missense_Mutation_p.A938V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	962										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCCGGGAGGCCGAGCCGCGC	0.682000													5	17					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179475107	179475107	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:179475107C>T	ENST00000589042.1	-	271	51370	c.51146G>A	c.(51145-51147)gGa>gAa	p.G17049E	TTN_ENST00000591111.1_Missense_Mutation_p.G15408E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8109E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14481E|TTN_ENST00000460472.2_Missense_Mutation_p.G7984E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8176E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15408	Ig-like 102.						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)			TTTGCATGGTCCAGGTAGGCC	0.353000													14	42					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889117	38889117	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:38889117C>T	ENST00000302328.3	-	26	4642	c.4444G>A	c.(4444-4446)Gga>Aga	p.G1482R	SCN11A_ENST00000450244.1_Missense_Mutation_p.G1482R|SCN11A_ENST00000456224.3_Missense_Mutation_p.G1444R	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1482					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCCTGATTCCTCGTGCAGCC	0.493000													17	32					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033083	55033083	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chrX:55033083T>C	ENST00000374987.3	+	6	838	c.772T>C	c.(772-774)Ttc>Ctc	p.F258L	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	258					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGAGGGGGCCTTCACCTGCTG	0.582000								Other BER factors					6	15					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039830	31039830	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:31039830C>T	ENST00000355537.3	+	4	3451	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGTGGACCCTGCATTTTG	0.557000													21	47					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803203	141803203	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:141803203C>T	ENST00000475668.2	+	70	8202	c.8148C>T	c.(8146-8148)gtC>gtT	p.V2716V	MGAM_ENST00000549489.2_Silent_p.V1820V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1820					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGCATGGTCATAACACCCT	0.493000													4	18					0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109773724	109773724	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:109773724G>A	ENST00000368952.4	-	5	1013	c.723C>T	c.(721-723)ttC>ttT	p.F241F	MICAL1_ENST00000358577.3_Silent_p.F222F|MICAL1_ENST00000358807.3_Silent_p.F222F|MICAL1_ENST00000483856.1_5'UTR			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	222					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTTCAGGGACGAATTTACCTC	0.552000													13	33					0	0	1	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680514	9680514	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr17:9680514C>T	ENST00000330255.4	-	4	582	c.570G>A	c.(568-570)acG>acA	p.T190T	DHRS7C_ENST00000571134.1_Silent_p.T189T	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	190						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ACTTACAAGTCGTACGGAACG	0.423000													8	19					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10729753	10729753	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:10729753G>A	ENST00000283025.2	-	6	1180	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	370					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGTGTTCTCGGCCTGGAAGAT	0.647000													65	109					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79966256	79966256	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr9:79966256C>T	ENST00000360280.3	+	53	7573	c.7313C>T	c.(7312-7314)tCc>tTc	p.S2438F	VPS13A_ENST00000376634.4_Missense_Mutation_p.S2438F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S2399F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S2438F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2438					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAGAAGATTCCCTCCCTCCT	0.393000													50	65					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659539	206659539	+	Silent	SNP	G	G	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr2:206659539G>A	ENST00000360409.3	+	17	3344	c.2553G>A	c.(2551-2553)tcG>tcA	p.S851S	NRP2_ENST00000412873.2_Silent_p.S829S|NRP2_ENST00000357785.5_Silent_p.S846S|NRP2_ENST00000540178.1_Silent_p.S846S|NRP2_ENST00000540841.1_Silent_p.S829S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	851					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCGCCCCCTCGACCGACAAAG	0.552000													24	50					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716527	45716527	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:45716527C>T	ENST00000413988.1	-	10	1070	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E344K	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	344										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TCAGAGAGTTCCAGGTCCCGG	0.662000													15	36					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44505629	44505629	+	Silent	SNP	C	C	T			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr20:44505629C>T	ENST00000255152.2	+	2	641	c.432C>T	c.(430-432)tcC>tcT	p.S144S	ZSWIM3_ENST00000454862.2_Silent_p.S138S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	144							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCGAGAAGTCCCTGGTTGAGC	0.507000													14	39					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27745536	27745543	+	Frame_Shift_Del	DEL	CAAAGGTA	CAAAGGTA	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr1:27745536_27745543delCAAAGGTA	ENST00000430629.2	-	3	392_399	c.177_184delTACCTTTG	c.(175-186)aaccfs	p.NTFA59fs	WASF2_ENST00000536657.1_Frame_Shift_Del_p.NTFA59fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	59					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		ACCCGAGAGGCAAAGGTATTTGCCTGAG	0.462													13	42	---	---	---	---					
GNB4	59345	broad.mit.edu	37	3	179134312	179134312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr3:179134312delA	ENST00000232564.3	-	5	522	c.236delT	c.(235-237)tafs	p.L79fs	GNB4_ENST00000468623.1_Frame_Shift_Del_p.L79fs	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	79					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	p.L79*(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCAAATAATTAATTTTCCATC	0.303													22	31	---	---	---	---					
IBTK	25998	broad.mit.edu	37	6	82911150	82911150	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr6:82911150delA	ENST00000306270.7	-	19	3328	c.2779delT	c.(2779-2781)acfs	p.Y927fs	IBTK_ENST00000510291.1_Frame_Shift_Del_p.Y927fs|IBTK_ENST00000503631.1_Frame_Shift_Del_p.Y726fs	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	927					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ATTTTCCGGTAAAACTCAGAA	0.313													6	11	---	---	---	---					
PAXIP1	22976	broad.mit.edu	37	7	154767776	154767777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr7:154767776_154767777insA	ENST00000404141.1	-	6	857_858	c.703_704insT	c.(703-705)accfs	p.T235fs	PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.T235fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	235	Glu-rich.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGATTTAGGTGAAAACTGCTGG	0.421													6	4	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28499560	28499560	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr15:28499560delA	ENST00000261609.7	-	20	3084	c.2976delT	c.(2974-2976)ctfs	p.L992fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	992					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGTATTAATAAGGTCTTTAT	0.403													10	26	---	---	---	---					
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1																						ccctgtctcgaaaaaaaaaaa	0.507													4	6	---	---	---	---					
NANOS3	342977	broad.mit.edu	37	19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BF-A5ES-01A-11D-A27K-08	TCGA-BF-A5ES-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a7a8c3d4-fd56-4a4b-9933-b16dba10b56a	9daadf97-4852-429c-b0fe-a86d2dc09a9d	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000591161.1_5'UTR	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													2	4	---	---	---	---